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UniProtKB - P29033 (CXB2_HUMAN)

Entry version 224 (02 Jun 2021)
Sequence version 3 (11 Oct 2005)
Previous versions | rss
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Protein

Gap junction beta-2 protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972).

Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910).

Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubMed:16849369, PubMed:19384972).

6 Publications

Caution

The role of Thr-34 and Ile-37 variants in deafness was unclear (PubMed:9139825, PubMed:9422505, PubMed:14694360, PubMed:17935238 and PubMed:16849369). However, their pathogenicity has been definitely confirmed (PubMed:31160754).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi42Calcium; shared with neighboring subunitCombined sources1 Publication1
Metal bindingi45Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi47CalciumCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHearing
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P29033

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-190704, Oligomerization of connexins into connexons
R-HSA-190827, Transport of connexins along the secretory pathway
R-HSA-190861, Gap junction assembly
R-HSA-190872, Transport of connexons to the plasma membrane

SIGNOR Signaling Network Open Resource

More...SIGNORi		P29033

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.24.1.3, the gap junction-forming connexin (connexin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gap junction beta-2 protein
Alternative name(s):
Connexin-262 Publications
Short name:
Cx261 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GJB2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4284, GJB2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		121011, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P29033

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000165474.5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei2 – 131 PublicationAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini14 – 20Cytoplasmic1 Publication7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei21 – 40Helical1 PublicationAdd BLAST20
Topological domaini41 – 73Extracellular1 PublicationAdd BLAST33
Transmembranei74 – 94Helical1 PublicationAdd BLAST21
Topological domaini95 – 135Cytoplasmic1 PublicationAdd BLAST41
Transmembranei136 – 156Helical1 PublicationAdd BLAST21
Topological domaini157 – 189Extracellular1 PublicationAdd BLAST33
Transmembranei190 – 210Helical1 PublicationAdd BLAST21
Topological domaini211 – 226Cytoplasmic1 PublicationAdd BLAST16

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 1A (DFNB1A)27 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08382624 – 226Missing in DFNB1A. 1 PublicationAdd BLAST203
Natural variantiVAR_02360532R → H in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar.1
Natural variantiVAR_00213834M → T in DFNB1A; it is correctly synthesized and targeted to the plasma membrane; it inefficiently forms intercellular channels that display an abnormal electrical behavior. 6 PublicationsCorresponds to variant dbSNP:rs35887622EnsemblClinVar.1
Natural variantiVAR_00213937V → I in DFNB1A. 10 PublicationsCorresponds to variant dbSNP:rs72474224EnsemblClinVar.1
Natural variantiVAR_00214177W → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs104894397EnsemblClinVar.1
Natural variantiVAR_02360779L → P in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs1555341957EnsemblClinVar.1
Natural variantiVAR_02360880Q → K in DFNB1A. 1 Publication1
Natural variantiVAR_00214384V → L in DFNB1A; sorted to the plasma membrane normally and forms gap junctions that were morphologically and electrically indistinguishable from those of control; the mutation reduces the permeability of GJB2 gap junction channels to inositol 1,4,5-trisphosphate (Ins(1,4,5)P3), resulting in blockade of the Ins(1,4,5)P3-induced inward calcium current in neighboring cells. 2 PublicationsCorresponds to variant dbSNP:rs104894409EnsemblClinVar.1
Natural variantiVAR_06080084V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant dbSNP:rs104894409EnsemblClinVar.1
Natural variantiVAR_01545886T → R in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation. 2 PublicationsCorresponds to variant dbSNP:rs1291519904EnsemblClinVar.1
Natural variantiVAR_01593790L → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338945EnsemblClinVar.1
Natural variantiVAR_02360993M → I in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516871EnsemblClinVar.1
Natural variantiVAR_00214495V → M in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033299EnsemblClinVar.1
Natural variantiVAR_002145113S → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs80338946EnsemblClinVar.1
Natural variantiVAR_060801118Missing in DFNB1A. 1
Natural variantiVAR_023610120Missing in DFNB1A. 1 Publication1
Natural variantiVAR_023611129E → K in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516875EnsemblClinVar.1
Natural variantiVAR_069520130G → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_069521130G → D in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_015460143R → W in DFNB1A. 4 PublicationsCorresponds to variant dbSNP:rs80338948EnsemblClinVar.1
Natural variantiVAR_015941159D → V in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs28931592EnsemblClinVar.1
Natural variantiVAR_023613178V → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs568612627EnsemblClinVar.1
Natural variantiVAR_015943184R → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_009969184R → W in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs998045226EnsemblClinVar.1
Natural variantiVAR_023616203I → K in DFNB1A. 1 Publication1
Natural variantiVAR_023617214L → P in DFNB1A. 1 Publication1
Deafness, autosomal dominant, 3A (DFNA3A)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00870944W → C in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894407EnsemblClinVar.1
Natural variantiVAR_03274944W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs104894413EnsemblClinVar.1
Natural variantiVAR_06079846D → E in DFNA3A; the mutant is targeted to the plasma membrane but fails to transfer ionic calcium or propidium iodide intercellularly suggesting disruption of both ionic and biochemical coupling; heterozygous gap junctions also show dysfunctional intercellular couplings and hemichannel opening confirming the dominant-negative nature of the mutation. 1 Publication1
Natural variantiVAR_00214075R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs104894402EnsemblClinVar.1
Natural variantiVAR_015940143R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894401EnsemblClinVar.1
Natural variantiVAR_032752179D → N in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs28931595EnsemblClinVar.1
Natural variantiVAR_023614184R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_023615197A → S in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs777236559Ensembl.1
Natural variantiVAR_015944202C → F in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894406EnsemblClinVar.1
Vohwinkel syndrome (VOWNKL)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00871066D → H in VOWNKL and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 3 PublicationsCorresponds to variant dbSNP:rs104894403EnsemblClinVar.1
Natural variantiVAR_069522130G → V in VOWNKL. 2 Publications1
Keratoderma, palmoplantar, with deafness (PPKDFN)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00996559G → A in PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 2 PublicationsCorresponds to variant dbSNP:rs104894404EnsemblClinVar.1
Natural variantiVAR_00871066D → H in VOWNKL and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 3 PublicationsCorresponds to variant dbSNP:rs104894403EnsemblClinVar.1
Natural variantiVAR_06079973H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant dbSNP:rs121912968EnsemblClinVar.1
Natural variantiVAR_01593675R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant dbSNP:rs28931593EnsemblClinVar.1
Natural variantiVAR_00214075R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs104894402EnsemblClinVar.1
Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01545312G → R in KIDAD. 1 PublicationCorresponds to variant dbSNP:rs104894408EnsemblClinVar.1
Natural variantiVAR_01545417S → F in KIDAD. 1 PublicationCorresponds to variant dbSNP:rs28929485EnsemblClinVar.1
Natural variantiVAR_01545650D → N in KIDAD and HID syndrome. 4 PublicationsCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1
Natural variantiVAR_01593550D → Y in KIDAD. 1 PublicationCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1
Bart-Pumphrey syndrome (BAPS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03275054N → K in BAPS. 1 PublicationCorresponds to variant dbSNP:rs104894412EnsemblClinVar.1
Natural variantiVAR_03275159G → S in BAPS. 1 PublicationCorresponds to variant dbSNP:rs104894410EnsemblClinVar.1
Ichthyosis hystrix-like with deafness syndrome (HID syndrome)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01545650D → N in KIDAD and HID syndrome. 4 PublicationsCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2 – 10Missing : Strongly reduced insertion into the cell membrane and strongly reduced gap junction plaque assembly. 1 Publication9
Mutagenesisi2 – 7Missing : Loss of gap junction ion conductance. 1 Publication6
Mutagenesisi34M → A: Loss of gap junction ion conductance, probably due to very low open probability of the channels. Can form functional channels with wild-type, but with strongly reduced channel conductance. No visible effect on channel assembly and membrane insertion. 1 Publication1

Keywords - Diseasei

Deafness, Disease variant, Ectodermal dysplasia, Ichthyosis, Non-syndromic deafness, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...DisGeNETi		2706

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GJB2

MalaCards human disease database

More...MalaCardsi		GJB2
MIMi124500, phenotype
148210, phenotype
148350, phenotype
149200, phenotype
220290, phenotype
601544, phenotype
602540, phenotype

Open Targets

More...OpenTargetsi		ENSG00000165474

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
494, Keratoderma hereditarium mutilans
477, KID syndrome
2698, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
2202, Palmoplantar keratoderma-deafness syndrome
166286, Porokeratotic eccrine ostial and dermal duct nevus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28695

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P29033, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4295738

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GJB2

Domain mapping of disease mutations (DMDM)

More...DMDMi		77416855

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578551 – 226Gap junction beta-2 proteinAdd BLAST226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi53 ↔ 180Combined sources2 Publications
Disulfide bondi60 ↔ 174Combined sources2 Publications
Disulfide bondi64 ↔ 169Combined sources2 Publications

Keywords - PTMi

Disulfide bond

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P29033

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P29033

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P29033

PeptideAtlas

More...PeptideAtlasi		P29033

PRoteomics IDEntifications database

More...PRIDEi		P29033

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54514

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P29033

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P29033

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165474, Expressed in ectocervix and 163 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P29033, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P29033, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000165474, Group enriched (cervix, uterine, esophagus, lymphoid tissue, tongue, vagina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

A hemichannel or connexon is composed of a hexamer of connexins. A functional gap junction is formed by the apposition of two hemichannels (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910).

Interacts with CNST (PubMed:19864490). Forms heteromeric channels with GJB4 (By similarity).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108972, 60 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P29033

Database of interacting proteins

More...DIPi		DIP-59742N

Protein interaction database and analysis system

More...IntActi		P29033, 50 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000372295

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P29033

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P29033, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1226
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P29033

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P29033

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the connexin family. Beta-type (group I) subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QWM8, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01030000234513

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_037388_4_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P29033

Identification of Orthologs from Complete Genome Data

More...OMAi		YAFYFMY

Database of Orthologous Groups

More...OrthoDBi		1174178at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P29033

TreeFam database of animal gene trees

More...TreeFami		TF329606

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1440.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000500, Connexin
IPR002268, Connexin26
IPR019570, Connexin_CCC
IPR017990, Connexin_CS
IPR013092, Connexin_N
IPR038359, Connexin_N_sf

The PANTHER Classification System

More...PANTHERi		PTHR11984, PTHR11984, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00029, Connexin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00206, CONNEXIN
PR01139, CONNEXINB2

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00037, CNX, 1 hit
SM01089, Connexin_CCC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00407, CONNEXINS_1, 1 hit
PS00408, CONNEXINS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P29033-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD 
        60         70         80         90        100
FVCNTLQPGC KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH 
       110        120        130        140        150
EKKRKFIKGE IKSEFKDIEE IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF 
       160        170        180        190        200
MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC FVSRPTEKTV FTVFMIAVSG 
       210        220 
ICILLNVTEL CYLLIRYCSG KSKKPV
Length:226
Mass (Da):26,215
Last modified:October 11, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD35293C6747E908C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti86T → S in AAD21314 (PubMed:1324944).Curated1
Sequence conflicti112K → N in AAY25170 (PubMed:15666300).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01545312G → R in KIDAD. 1 PublicationCorresponds to variant dbSNP:rs104894408EnsemblClinVar.1
Natural variantiVAR_01545417S → F in KIDAD. 1 PublicationCorresponds to variant dbSNP:rs28929485EnsemblClinVar.1
Natural variantiVAR_08382624 – 226Missing in DFNB1A. 1 PublicationAdd BLAST203
Natural variantiVAR_00213727V → I7 PublicationsCorresponds to variant dbSNP:rs2274084EnsemblClinVar.1
Natural variantiVAR_02360532R → H in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar.1
Natural variantiVAR_01683932R → L1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar.1
Natural variantiVAR_00213834M → T in DFNB1A; it is correctly synthesized and targeted to the plasma membrane; it inefficiently forms intercellular channels that display an abnormal electrical behavior. 6 PublicationsCorresponds to variant dbSNP:rs35887622EnsemblClinVar.1
Natural variantiVAR_00213937V → I in DFNB1A. 10 PublicationsCorresponds to variant dbSNP:rs72474224EnsemblClinVar.1
Natural variantiVAR_00870944W → C in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894407EnsemblClinVar.1
Natural variantiVAR_03274944W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs104894413EnsemblClinVar.1
Natural variantiVAR_01545545G → E in deafness. 1 PublicationCorresponds to variant dbSNP:rs72561723EnsemblClinVar.1
Natural variantiVAR_02360646 – 48DEQ → E May contribute to deafness. 1 Publication3
Natural variantiVAR_06079846D → E in DFNA3A; the mutant is targeted to the plasma membrane but fails to transfer ionic calcium or propidium iodide intercellularly suggesting disruption of both ionic and biochemical coupling; heterozygous gap junctions also show dysfunctional intercellular couplings and hemichannel opening confirming the dominant-negative nature of the mutation. 1 Publication1
Natural variantiVAR_01545650D → N in KIDAD and HID syndrome. 4 PublicationsCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1
Natural variantiVAR_01593550D → Y in KIDAD. 1 PublicationCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1
Natural variantiVAR_03275054N → K in BAPS. 1 PublicationCorresponds to variant dbSNP:rs104894412EnsemblClinVar.1
Natural variantiVAR_00996559G → A in PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 2 PublicationsCorresponds to variant dbSNP:rs104894404EnsemblClinVar.1
Natural variantiVAR_03275159G → S in BAPS. 1 PublicationCorresponds to variant dbSNP:rs104894410EnsemblClinVar.1
Natural variantiVAR_00871066D → H in VOWNKL and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 3 PublicationsCorresponds to variant dbSNP:rs104894403EnsemblClinVar.1
Natural variantiVAR_01545771I → T in deafness. 1 PublicationCorresponds to variant dbSNP:rs1373154561EnsemblClinVar.1
Natural variantiVAR_06079973H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant dbSNP:rs121912968EnsemblClinVar.1
Natural variantiVAR_01593675R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant dbSNP:rs28931593EnsemblClinVar.1
Natural variantiVAR_00214075R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs104894402EnsemblClinVar.1
Natural variantiVAR_00214177W → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs104894397EnsemblClinVar.1
Natural variantiVAR_02360779L → P in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs1555341957EnsemblClinVar.1
Natural variantiVAR_02360880Q → K in DFNB1A. 1 Publication1
Natural variantiVAR_00214283F → L1 PublicationCorresponds to variant dbSNP:rs111033218EnsemblClinVar.1
Natural variantiVAR_00214384V → L in DFNB1A; sorted to the plasma membrane normally and forms gap junctions that were morphologically and electrically indistinguishable from those of control; the mutation reduces the permeability of GJB2 gap junction channels to inositol 1,4,5-trisphosphate (Ins(1,4,5)P3), resulting in blockade of the Ins(1,4,5)P3-induced inward calcium current in neighboring cells. 2 PublicationsCorresponds to variant dbSNP:rs104894409EnsemblClinVar.1
Natural variantiVAR_06080084V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant dbSNP:rs104894409EnsemblClinVar.1
Natural variantiVAR_01545886T → R in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation. 2 PublicationsCorresponds to variant dbSNP:rs1291519904EnsemblClinVar.1
Natural variantiVAR_01593790L → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338945EnsemblClinVar.1
Natural variantiVAR_02360993M → I in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516871EnsemblClinVar.1
Natural variantiVAR_00214495V → M in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033299EnsemblClinVar.1
Natural variantiVAR_015938111I → T1 PublicationCorresponds to variant dbSNP:rs1316789942Ensembl.1
Natural variantiVAR_002145113S → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs80338946EnsemblClinVar.1
Natural variantiVAR_009966114E → G5 PublicationsCorresponds to variant dbSNP:rs2274083EnsemblClinVar.1
Natural variantiVAR_069519117D → H1 Publication1
Natural variantiVAR_060801118Missing in DFNB1A. 1
Natural variantiVAR_023610120Missing in DFNB1A. 1 Publication1
Natural variantiVAR_015459123T → N1 PublicationCorresponds to variant dbSNP:rs111033188EnsemblClinVar.1
Natural variantiVAR_015939127R → H3 PublicationsCorresponds to variant dbSNP:rs111033196EnsemblClinVar.1
Natural variantiVAR_023611129E → K in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516875EnsemblClinVar.1
Natural variantiVAR_069520130G → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_069521130G → D in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_069522130G → V in VOWNKL. 2 Publications1
Natural variantiVAR_069523142Missing 1 Publication1
Natural variantiVAR_015940143R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894401EnsemblClinVar.1
Natural variantiVAR_015460143R → W in DFNB1A. 4 PublicationsCorresponds to variant dbSNP:rs80338948EnsemblClinVar.1
Natural variantiVAR_069524148A → P1 Publication1
Natural variantiVAR_009967153V → I May contribute to deafness. 3 PublicationsCorresponds to variant dbSNP:rs111033186EnsemblClinVar.1
Natural variantiVAR_015941159D → V in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs28931592EnsemblClinVar.1
Natural variantiVAR_002146160G → S2 PublicationsCorresponds to variant dbSNP:rs34988750EnsemblClinVar.1
Natural variantiVAR_015942165R → W1 PublicationCorresponds to variant dbSNP:rs376898963EnsemblClinVar.1
Natural variantiVAR_023612167V → M May contribute to deafness. 1 PublicationCorresponds to variant dbSNP:rs111033360EnsemblClinVar.1
Natural variantiVAR_057959168K → R in a patient with congenital erythrokeratodermia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200104362EnsemblClinVar.1
Natural variantiVAR_009968169C → Y. Corresponds to variant dbSNP:rs774518779EnsemblClinVar.1
Natural variantiVAR_023613178V → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs568612627EnsemblClinVar.1
Natural variantiVAR_032752179D → N in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs28931595EnsemblClinVar.1
Natural variantiVAR_015943184R → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_023614184R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_009969184R → W in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs998045226EnsemblClinVar.1
Natural variantiVAR_015461191F → L1 PublicationCorresponds to variant dbSNP:rs397516878EnsemblClinVar.1
Natural variantiVAR_023615197A → S in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs777236559Ensembl.1
Natural variantiVAR_015944202C → F in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894406EnsemblClinVar.1
Natural variantiVAR_023616203I → K in DFNB1A. 1 Publication1
Natural variantiVAR_009970203I → T2 PublicationsCorresponds to variant dbSNP:rs76838169EnsemblClinVar.1
Natural variantiVAR_023617214L → P in DFNB1A. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M86849 mRNA Translation: AAD21314.1
AF281280 Genomic DNA Translation: AAF91440.1
AF479776 Genomic DNA Translation: AAL87696.1
AY255853 Genomic DNA Translation: AAP34178.1
AY275646 Genomic DNA Translation: AAQ94940.1
AY275647 Genomic DNA Translation: AAQ94941.1
AY275648 Genomic DNA Translation: AAQ94942.1
AY275649 Genomic DNA Translation: AAQ94943.1
AY275650 Genomic DNA Translation: AAQ94944.1
AY275651 Genomic DNA Translation: AAQ94945.1
AY275652 Genomic DNA Translation: AAQ94946.1
AY275653 Genomic DNA Translation: AAQ94947.1
AY275654 Genomic DNA Translation: AAQ94948.1
AY280971 Genomic DNA Translation: AAQ17213.1
AY953438 Genomic DNA Translation: AAY25169.1
AY953441 Genomic DNA Translation: AAY25170.1
BT006732 mRNA Translation: AAP35378.1
AL138688 Genomic DNA No translation available.
BC017048 mRNA Translation: AAH17048.1
BC071703 mRNA Translation: AAH71703.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9290.1

Protein sequence database of the Protein Information Resource

More...PIRi		A43424

NCBI Reference Sequences

More...RefSeqi		NP_003995.2, NM_004004.5
XP_011533351.1, XM_011535049.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000382844; ENSP00000372295; ENSG00000165474
ENST00000382848; ENSP00000372299; ENSG00000165474

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2706

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2706

UCSC genome browser

More...UCSCi		uc001umy.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Connexin-deafness homepage
Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86849 mRNA Translation: AAD21314.1
AF281280 Genomic DNA Translation: AAF91440.1
AF479776 Genomic DNA Translation: AAL87696.1
AY255853 Genomic DNA Translation: AAP34178.1
AY275646 Genomic DNA Translation: AAQ94940.1
AY275647 Genomic DNA Translation: AAQ94941.1
AY275648 Genomic DNA Translation: AAQ94942.1
AY275649 Genomic DNA Translation: AAQ94943.1
AY275650 Genomic DNA Translation: AAQ94944.1
AY275651 Genomic DNA Translation: AAQ94945.1
AY275652 Genomic DNA Translation: AAQ94946.1
AY275653 Genomic DNA Translation: AAQ94947.1
AY275654 Genomic DNA Translation: AAQ94948.1
AY280971 Genomic DNA Translation: AAQ17213.1
AY953438 Genomic DNA Translation: AAY25169.1
AY953441 Genomic DNA Translation: AAY25170.1
BT006732 mRNA Translation: AAP35378.1
AL138688 Genomic DNA No translation available.
BC017048 mRNA Translation: AAH17048.1
BC071703 mRNA Translation: AAH71703.1
CCDSiCCDS9290.1
PIRiA43424
RefSeqiNP_003995.2, NM_004004.5
XP_011533351.1, XM_011535049.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XIRmodel-A1-226[»]
2ZW3X-ray3.50A/B/C/D/E/F1-226[»]
3IZ1electron microscopy6.00A/B/C1-226[»]
3IZ2electron microscopy10.00A/B/C8-226[»]
5ER7X-ray3.29A/B1-226[»]
5ERAX-ray3.80A/B1-226[»]
5KJ3NMR-A1-22[»]
5KJGNMR-A1-22[»]
6UVRelectron microscopy4.00A/B/C/D/E/F/G/H/I/J/K/L1-226[»]
6UVSelectron microscopy4.20A/B/C/D/E/F/G/H/I/J/K/L1-226[»]
6UVTelectron microscopy7.50A/B/C/D/E/F/G/H/I/J/K/L1-226[»]
SMRiP29033
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108972, 60 interactors
CORUMiP29033
DIPiDIP-59742N
IntActiP29033, 50 interactors
STRINGi9606.ENSP00000372295

Chemistry databases

BindingDBiP29033
ChEMBLiCHEMBL4295738

Protein family/group databases

TCDBi1.A.24.1.3, the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiP29033
PhosphoSitePlusiP29033

Genetic variation databases

BioMutaiGJB2
DMDMi77416855

Proteomic databases

jPOSTiP29033
MassIVEiP29033
PaxDbiP29033
PeptideAtlasiP29033
PRIDEiP29033
ProteomicsDBi54514

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4587, 326 antibodies

The DNASU plasmid repository

More...DNASUi		2706

Genome annotation databases

EnsembliENST00000382844; ENSP00000372295; ENSG00000165474
ENST00000382848; ENSP00000372299; ENSG00000165474
GeneIDi2706
KEGGihsa:2706
UCSCiuc001umy.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2706
DisGeNETi2706

GeneCards: human genes, protein and diseases

More...GeneCardsi		GJB2
GeneReviewsiGJB2
HGNCiHGNC:4284, GJB2
HPAiENSG00000165474, Group enriched (cervix, uterine, esophagus, lymphoid tissue, tongue, vagina)
MalaCardsiGJB2
MIMi121011, gene
124500, phenotype
148210, phenotype
148350, phenotype
149200, phenotype
220290, phenotype
601544, phenotype
602540, phenotype
neXtProtiNX_P29033
OpenTargetsiENSG00000165474
Orphaneti90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
494, Keratoderma hereditarium mutilans
477, KID syndrome
2698, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
2202, Palmoplantar keratoderma-deafness syndrome
166286, Porokeratotic eccrine ostial and dermal duct nevus
PharmGKBiPA28695
VEuPathDBiHostDB:ENSG00000165474.5

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QWM8, Eukaryota
GeneTreeiENSGT01030000234513
HOGENOMiCLU_037388_4_1_1
InParanoidiP29033
OMAiYAFYFMY
OrthoDBi1174178at2759
PhylomeDBiP29033
TreeFamiTF329606

Enzyme and pathway databases

PathwayCommonsiP29033
ReactomeiR-HSA-190704, Oligomerization of connexins into connexons
R-HSA-190827, Transport of connexins along the secretory pathway
R-HSA-190861, Gap junction assembly
R-HSA-190872, Transport of connexons to the plasma membrane
SIGNORiP29033

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2706, 32 hits in 984 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GJB2, human
EvolutionaryTraceiP29033

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GJB2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2706
PharosiP29033, Tbio

Protein Ontology

More...PROi		PR:P29033
RNActiP29033, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165474, Expressed in ectocervix and 163 other tissues
ExpressionAtlasiP29033, baseline and differential
GenevisibleiP29033, HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500, Connexin
IPR002268, Connexin26
IPR019570, Connexin_CCC
IPR017990, Connexin_CS
IPR013092, Connexin_N
IPR038359, Connexin_N_sf
PANTHERiPTHR11984, PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029, Connexin, 1 hit
PRINTSiPR00206, CONNEXIN
PR01139, CONNEXINB2
SMARTiView protein in SMART
SM00037, CNX, 1 hit
SM01089, Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407, CONNEXINS_1, 1 hit
PS00408, CONNEXINS_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCXB2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P29033
Secondary accession number(s): Q508A5
, Q508A6, Q5YLL0, Q5YLL1, Q5YLL4, Q6IPV5, Q86U88, Q96AK0, Q9H536, Q9NNY4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 11, 2005
Last modified: June 2, 2021
This is version 224 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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