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UniProtKB - O75712 (CXB3_HUMAN)

Protein

Gap junction beta-3 protein

Gene

GJB3

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 - Molecular functioni

  • gap junction channel activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.24.1.10 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_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-3 protein
Alternative name(s):
Connexin-31
Short name:
Cx31
<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:GJB3
Synonyms:CX31
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000188910.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:4285 GJB3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603324 gene+phenotype

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75712

<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; 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 – 20CytoplasmicSequence analysisAdd BLAST20
<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>Transmembranei21 – 40HelicalSequence analysisAdd BLAST20
Topological domaini41 – 75ExtracellularSequence analysisAdd BLAST35
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 126CytoplasmicSequence analysisAdd BLAST28
Transmembranei127 – 149HelicalSequence analysisAdd BLAST23
Topological domaini150 – 187ExtracellularSequence analysisAdd BLAST38
Transmembranei188 – 210HelicalSequence analysisAdd BLAST23
Topological domaini211 – 270CytoplasmicSequence analysisAdd BLAST60

<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>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

Erythrokeratodermia variabilis et progressiva 1 (EKVP1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
See also OMIM:133200
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_00214712G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar.1
Natural variantiVAR_00214812G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar.1
Natural variantiVAR_01508542R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar.1
Natural variantiVAR_00214986C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar.1
Natural variantiVAR_015086137F → L in EKVP1. 1 Publication1
Deafness, autosomal dominant, 2B (DFNA2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
See also OMIM:612644
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015087141I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar.1
Natural variantiVAR_002150183E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		2707

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

More...GeneReviewsi		GJB3

MalaCards human disease database

More...MalaCardsi		GJB3
MIMi133200 phenotype
603324 gene+phenotype
612644 phenotype

Open Targets

More...OpenTargetsi		ENSG00000188910

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
317 Erythrokeratodermia variabilis
139512 Neuropathy with hearing impairment

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28696

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GJB3

<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_00000578621 – 270Gap junction beta-3 proteinAdd BLAST270

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75712

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75712

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75712

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

More...PaxDbi		O75712

PeptideAtlas

More...PeptideAtlasi		O75712

PRoteomics IDEntifications database

More...PRIDEi		O75712

ProteomicsDB human proteome resource

More...ProteomicsDBi		50170

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75712

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

More...PhosphoSitePlusi		O75712

<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		ENSG00000188910 Expressed in 140 organ(s), highest expression level in skin of leg

CleanEx database of gene expression profiles

More...CleanExi		HS_GJB3

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75712 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA074472

<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		108973, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O75712

Protein interaction database and analysis system

More...IntActi		O75712, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000362460

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O75712

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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		ENOG410IE21 Eukaryota
ENOG410Y9C2 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158911

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231127

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG009576

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75712

KEGG Orthology (KO)

More...KOi		K07622

Identification of Orthologs from Complete Genome Data

More...OMAi		HTLWHGF

Database of Orthologous Groups

More...OrthoDBi		902090at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75712

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
IPR002269 Connexin31
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf

The PANTHER Classification System

More...PANTHERi		PTHR11984 PTHR11984, 1 hit
PTHR11984:SF65 PTHR11984:SF65, 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
PR01140 CONNEXINB3

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>Sequencei

<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.

O75712-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD 
        60         70         80         90        100
FDCNTKQPGC TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE 
       110        120        130        140        150
RERRHRQKHG DQCAKLYDNA GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH 
       160        170        180        190        200
TLWHGFNMPR LVQCANVAPC PNIVDCYIAR PTEKKIFTYF MVGASAVCIV 
       210        220        230        240        250
LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR CHHKLVEAGE 
       260        270
VDPDPGNNKL QASAPNLTPI
Length:270
Mass (Da):30,818
Last modified:November 1, 1998 - v1
<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:iE46D36E5835646A4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00214712G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar.1
Natural variantiVAR_00214812G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar.1
Natural variantiVAR_01197832R → W4 PublicationsCorresponds to variant dbSNP:rs1805063EnsemblClinVar.1
Natural variantiVAR_01508542R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar.1
Natural variantiVAR_00214986C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar.1
Natural variantiVAR_015086137F → L in EKVP1. 1 Publication1
Natural variantiVAR_015087141I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar.1
Natural variantiVAR_002150183E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar.1
Natural variantiVAR_022423200V → I2 PublicationsCorresponds to variant dbSNP:rs61734064EnsemblClinVar.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
AJ004856 Genomic DNA Translation: CAA06165.1
AF052692 mRNA Translation: AAD11816.1
AF099730 Genomic DNA Translation: AAC95471.1
AK312890 mRNA Translation: BAG35737.1
AL121988 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07442.1
BC012918 mRNA Translation: AAH12918.1
BC110640 mRNA Translation: AAI10641.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS384.1

Protein sequence database of the Protein Information Resource

More...PIRi		JE0274

NCBI Reference Sequences

More...RefSeqi		NP_001005752.1, NM_001005752.1
NP_076872.1, NM_024009.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.522561

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000373362; ENSP00000362460; ENSG00000188910
ENST00000373366; ENSP00000362464; ENSG00000188910

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2707

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2707

UCSC genome browser

More...UCSCi		uc001bxx.4 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
AJ004856 Genomic DNA Translation: CAA06165.1
AF052692 mRNA Translation: AAD11816.1
AF099730 Genomic DNA Translation: AAC95471.1
AK312890 mRNA Translation: BAG35737.1
AL121988 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07442.1
BC012918 mRNA Translation: AAH12918.1
BC110640 mRNA Translation: AAI10641.1
CCDSiCCDS384.1
PIRiJE0274
RefSeqiNP_001005752.1, NM_001005752.1
NP_076872.1, NM_024009.2
UniGeneiHs.522561

3D structure databases

ProteinModelPortaliO75712
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108973, 7 interactors
CORUMiO75712
IntActiO75712, 5 interactors
STRINGi9606.ENSP00000362460

Protein family/group databases

TCDBi1.A.24.1.10 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiO75712
PhosphoSitePlusiO75712

Polymorphism and mutation databases

BioMutaiGJB3

Proteomic databases

EPDiO75712
jPOSTiO75712
MaxQBiO75712
PaxDbiO75712
PeptideAtlasiO75712
PRIDEiO75712
ProteomicsDBi50170

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2707
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373362; ENSP00000362460; ENSG00000188910
ENST00000373366; ENSP00000362464; ENSG00000188910
GeneIDi2707
KEGGihsa:2707
UCSCiuc001bxx.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2707
DisGeNETi2707
EuPathDBiHostDB:ENSG00000188910.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		GJB3
GeneReviewsiGJB3

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0000402
HGNCiHGNC:4285 GJB3
HPAiHPA074472
MalaCardsiGJB3
MIMi133200 phenotype
603324 gene+phenotype
612644 phenotype
neXtProtiNX_O75712
OpenTargetsiENSG00000188910
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
317 Erythrokeratodermia variabilis
139512 Neuropathy with hearing impairment
PharmGKBiPA28696

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IE21 Eukaryota
ENOG410Y9C2 LUCA
GeneTreeiENSGT00940000158911
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiO75712
KOiK07622
OMAiHTLWHGF
OrthoDBi902090at2759
PhylomeDBiO75712
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

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

More...ChiTaRSi		GJB3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GJB3

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

More...GenomeRNAii		2707

Protein Ontology

More...PROi		PR:O75712

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000188910 Expressed in 140 organ(s), highest expression level in skin of leg
CleanExiHS_GJB3
GenevisibleiO75712 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002269 Connexin31
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF65 PTHR11984:SF65, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01140 CONNEXINB3
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 nameiCXB3_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: O75712
Secondary accession number(s): B2R790, Q2TAZ8
<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: December 15, 1998
Last sequence update: November 1, 1998
Last modified: January 16, 2019
This is version 177 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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