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UniProtKB - O95452 (CXB6_HUMAN)

Entry version 162 (08 May 2019)
Sequence version 2 (19 Sep 2003)
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Protein

Gap junction beta-6 protein

Gene

GJB6

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

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

<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 - Biological processi

View the 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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-190861 Gap junction assembly

<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_and_taxonomy_section">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-6 protein
Alternative name(s):
Connexin-30
Short name:
Cx30
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GJB6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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:4288 GJB6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604418 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95452

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei23 – 45HelicalSequence analysisAdd BLAST23
Topological domaini46 – 75ExtracellularSequence analysisAdd BLAST30
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 131CytoplasmicSequence analysisAdd BLAST33
Transmembranei132 – 154HelicalSequence analysisAdd BLAST23
Topological domaini155 – 192ExtracellularSequence analysisAdd BLAST38
Transmembranei193 – 215HelicalSequence analysisAdd BLAST23
Topological domaini216 – 261CytoplasmicSequence analysisAdd BLAST46

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

Ectodermal dysplasia 2, Clouston type (ECTD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.
See also OMIM:129500
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_01569611G → R in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894415EnsemblClinVar.1
Natural variantiVAR_01683837V → E in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894416EnsemblClinVar.1
Natural variantiVAR_01569788A → V in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs28937872EnsemblClinVar.1
Deafness, autosomal recessive, 1B (DFNB1B)2 Publications
The disease is caused by mutations 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.
See also OMIM:612645
Deafness, autosomal dominant, 3B (DFNA3B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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.
See also OMIM:612643
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0087115T → M in DFNA3B. 1 PublicationCorresponds to variant dbSNP:rs104894414EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Ectodermal dysplasia, Non-syndromic deafness, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...DisGeNETi		10804

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

More...GeneReviewsi		GJB6

MalaCards human disease database

More...MalaCardsi		GJB6
MIMi129500 phenotype
612643 phenotype
612645 phenotype

Open Targets

More...OpenTargetsi		ENSG00000121742

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
189 Hidrotic ectodermal dysplasia
477 KID syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28699

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GJB6

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578711 – 261Gap junction beta-6 proteinAdd BLAST261

Proteomic databases

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

More...PaxDbi		O95452

PeptideAtlas

More...PeptideAtlasi		O95452

PRoteomics IDEntifications database

More...PRIDEi		O95452

ProteomicsDB human proteome resource

More...ProteomicsDBi		50885

PTM databases

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

More...PhosphoSitePlusi		O95452

<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		ENSG00000121742 Expressed in 130 organ(s), highest expression level in mouth mucosa

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95452 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95452 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA014846

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116018, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O95452

Protein interaction database and analysis system

More...IntActi		O95452, 13 interactors

Molecular INTeraction database

More...MINTi		O95452

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000348521

<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		ENOG410IFM8 Eukaryota
ENOG410Y7VN LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182704

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231127

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95452

KEGG Orthology (KO)

More...KOi		K07625

Identification of Orthologs from Complete Genome Data

More...OMAi		QTQRNHP

Database of Orthologous Groups

More...OrthoDBi		984738at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95452

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
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

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

O95452-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED 
        60         70         80         90        100
FVCNTLQPGC KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH 
       110        120        130        140        150
ETTRKFRRGE KRNDFKDIED IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF 
       160        170        180        190        200
MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC FISRPTEKTV FTIFMISASV 
       210        220        230        240        250
ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK QNEMNELISD 
       260 
SGQNAITGFP S
Length:261
Mass (Da):30,387
Last modified:September 19, 2003 - v2
<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:i394A2D97E08EEB43
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YCY0A0A2R8YCY0_HUMAN
Gap junction beta-6 protein
GJB6
78Annotation score:

Annotation score:1 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>
A0A2R8Y4J9A0A2R8Y4J9_HUMAN
Gap junction beta-6 protein
GJB6
108Annotation score:

Annotation score:1 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>
A0A2R8Y5T6A0A2R8Y5T6_HUMAN
Gap junction beta-6 protein
GJB6
103Annotation score:

Annotation score:1 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>
A0A2R8Y6N2A0A2R8Y6N2_HUMAN
Gap junction beta-6 protein
GJB6
45Annotation score:

Annotation score:1 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 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 conflicti11G → E in AAV67951 (PubMed:15792634).Curated1
Sequence conflicti124Q → H in CAA06611 (PubMed:10471490).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0087115T → M in DFNA3B. 1 PublicationCorresponds to variant dbSNP:rs104894414EnsemblClinVar.1
Natural variantiVAR_01569611G → R in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894415EnsemblClinVar.1
Natural variantiVAR_01683837V → E in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894416EnsemblClinVar.1
Natural variantiVAR_05796059G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. 1 Publication1
Natural variantiVAR_01569788A → V in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs28937872EnsemblClinVar.1
Natural variantiVAR_022424139S → G1 Publication1
Natural variantiVAR_048825159N → S. Corresponds to variant dbSNP:rs35277762EnsemblClinVar.1
Natural variantiVAR_022425199S → T1 PublicationCorresponds to variant dbSNP:rs111033338EnsemblClinVar.1

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
AJ005585 Genomic DNA Translation: CAA06611.1
AY297110 mRNA Translation: AAP51162.1
AK289592 mRNA Translation: BAF82281.1
AK075247 mRNA Translation: BAG52094.1
AL355984 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08254.1
BC038934 mRNA Translation: AAH38934.1
AY789474 mRNA Translation: AAV67951.1
AY789475 mRNA Translation: AAV67952.1
AY789476 mRNA Translation: AAV67953.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9291.1

NCBI Reference Sequences

More...RefSeqi		NP_001103689.1, NM_001110219.2
NP_001103690.1, NM_001110220.2
NP_001103691.1, NM_001110221.2
NP_006774.2, NM_006783.4
XP_016875846.1, XM_017020357.1
XP_016875847.1, XM_017020358.1
XP_016875848.1, XM_017020359.1
XP_016875849.1, XM_017020360.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000241124; ENSP00000241124; ENSG00000121742
ENST00000356192; ENSP00000348521; ENSG00000121742
ENST00000400065; ENSP00000382938; ENSG00000121742
ENST00000400066; ENSP00000382939; ENSG00000121742
ENST00000636852; ENSP00000489698; ENSG00000121742
ENST00000643121; ENSP00000494468; ENSG00000121742
ENST00000643211; ENSP00000495841; ENSG00000121742
ENST00000644283; ENSP00000495320; ENSG00000121742
ENST00000644667; ENSP00000493621; ENSG00000121742
ENST00000647029; ENSP00000493834; ENSG00000121742
ENST00000647243; ENSP00000494733; ENSG00000121742

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10804

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10804

UCSC genome browser

More...UCSCi		uc001umz.5 human

Keywords - Coding sequence diversityi

Polymorphism

<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_references_section">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
AJ005585 Genomic DNA Translation: CAA06611.1
AY297110 mRNA Translation: AAP51162.1
AK289592 mRNA Translation: BAF82281.1
AK075247 mRNA Translation: BAG52094.1
AL355984 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08254.1
BC038934 mRNA Translation: AAH38934.1
AY789474 mRNA Translation: AAV67951.1
AY789475 mRNA Translation: AAV67952.1
AY789476 mRNA Translation: AAV67953.1
CCDSiCCDS9291.1
RefSeqiNP_001103689.1, NM_001110219.2
NP_001103690.1, NM_001110220.2
NP_001103691.1, NM_001110221.2
NP_006774.2, NM_006783.4
XP_016875846.1, XM_017020357.1
XP_016875847.1, XM_017020358.1
XP_016875848.1, XM_017020359.1
XP_016875849.1, XM_017020360.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi116018, 1 interactor
CORUMiO95452
IntActiO95452, 13 interactors
MINTiO95452
STRINGi9606.ENSP00000348521

PTM databases

PhosphoSitePlusiO95452

Polymorphism and mutation databases

BioMutaiGJB6

Proteomic databases

PaxDbiO95452
PeptideAtlasiO95452
PRIDEiO95452
ProteomicsDBi50885

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		10804
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241124; ENSP00000241124; ENSG00000121742
ENST00000356192; ENSP00000348521; ENSG00000121742
ENST00000400065; ENSP00000382938; ENSG00000121742
ENST00000400066; ENSP00000382939; ENSG00000121742
ENST00000636852; ENSP00000489698; ENSG00000121742
ENST00000643121; ENSP00000494468; ENSG00000121742
ENST00000643211; ENSP00000495841; ENSG00000121742
ENST00000644283; ENSP00000495320; ENSG00000121742
ENST00000644667; ENSP00000493621; ENSG00000121742
ENST00000647029; ENSP00000493834; ENSG00000121742
ENST00000647243; ENSP00000494733; ENSG00000121742
GeneIDi10804
KEGGihsa:10804
UCSCiuc001umz.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10804
DisGeNETi10804

GeneCards: human genes, protein and diseases

More...GeneCardsi		GJB6
GeneReviewsiGJB6
HGNCiHGNC:4288 GJB6
HPAiHPA014846
MalaCardsiGJB6
MIMi129500 phenotype
604418 gene
612643 phenotype
612645 phenotype
neXtProtiNX_O95452
OpenTargetsiENSG00000121742
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
189 Hidrotic ectodermal dysplasia
477 KID syndrome
PharmGKBiPA28699

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IFM8 Eukaryota
ENOG410Y7VN LUCA
GeneTreeiENSGT00950000182704
HOGENOMiHOG000231127
InParanoidiO95452
KOiK07625
OMAiQTQRNHP
OrthoDBi984738at2759
PhylomeDBiO95452
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GJB6

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

More...GenomeRNAii		10804

Protein Ontology

More...PROi		PR:O95452

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000121742 Expressed in 130 organ(s), highest expression level in mouth mucosa
ExpressionAtlasiO95452 baseline and differential
GenevisibleiO95452 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
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
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiCXB6_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: O95452
Secondary accession number(s): B3KQN2
, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 19, 2003
Last modified: May 8, 2019
This is version 162 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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