GJB3

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.

GO - Molecular functionⁱ

gap junction channel activity
Source: UniProtKB
Non-traceable author statementⁱ
- 9704026

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell communication Source: InterPro
cellular response to retinoic acid Source: Ensembl
in utero embryonic development Source: Ensembl
placenta development Source: Ensembl
skin development Source: Ensembl
spermatogenesis Source: Ensembl

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly

Reactomeⁱ

R-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBⁱ	1.A.24.1.10 the gap junction-forming connexin (connexin) family

TCDBⁱ

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

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Gap junction beta-3 protein Alternative name(s): Connexin-31 Short name: Cx31
Gene namesⁱ	Name:GJB3 Synonyms:CX31
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000188910.7
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4285 GJB3
MIMⁱ	603324 gene+phenotype
neXtProtⁱ	NX_O75712

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 20	CytoplasmicSequence analysisAdd BLAST	20
Transmembraneⁱ	21 – 40	HelicalSequence analysisAdd BLAST	20
Topological domainⁱ	41 – 75	ExtracellularSequence analysisAdd BLAST	35
Transmembraneⁱ	76 – 98	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	99 – 126	CytoplasmicSequence analysisAdd BLAST	28
Transmembraneⁱ	127 – 149	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	150 – 187	ExtracellularSequence analysisAdd BLAST	38
Transmembraneⁱ	188 – 210	HelicalSequence analysisAdd BLAST	23
Topological domainⁱ	211 – 270	CytoplasmicSequence analysisAdd BLAST	60

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechⁱ

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.

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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_015087	141	I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar.		1
Natural variantⁱVAR_002150	183	E → 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
GeneReviewsⁱ	GJB3
MalaCards human disease database More...MalaCardsⁱ	GJB3
MIMⁱ	133200 phenotype 603324 gene+phenotype 612644 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000188910
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
PharmGKBⁱ	PA28696

Polymorphism and mutation databases

BioMutaⁱ	GJB3

BioMutaⁱ

GJB3

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000057862	1 – 270	Gap junction beta-3 proteinAdd BLAST		270

Proteomic databases

EPDⁱ	O75712
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O75712
PaxDbⁱ	O75712
PeptideAtlas More...PeptideAtlasⁱ	O75712
PRIDEⁱ	O75712
ProteomicsDBⁱ	50170

PTM databases

iPTMnetⁱ	O75712
PhosphoSitePlusⁱ	O75712

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000188910 Expressed in 140 organ(s), highest expression level in skin of leg
CleanExⁱ	HS_GJB3
Genevisibleⁱ	O75712 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA074472

HPAⁱ

HPA074472

Interactionⁱ

Subunit structureⁱ

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

Protein-protein interaction databases

BioGridⁱ	108973, 7 interactors
CORUMⁱ	O75712
IntActⁱ	O75712, 5 interactors
STRINGⁱ	9606.ENSP00000362460

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O75712
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

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

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IE21 Eukaryota ENOG410Y9C2 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144026
HOGENOMⁱ	HOG000231127
HOVERGENⁱ	HBG009576
InParanoidⁱ	O75712
KEGG Orthology (KO) More...KOⁱ	K07622
OMAⁱ	HTLWHGF
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0FKH
PhylomeDBⁱ	O75712
TreeFamⁱ	TF329606

Family and domain databases

Gene3Dⁱ	1.20.1440.80, 1 hit
InterProⁱ	View protein in InterPro IPR000500 Connexin IPR002269 Connexin31 IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf
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
PRINTSⁱ	PR00206 CONNEXIN PR01140 CONNEXINB3
SMARTⁱ	View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit
PROSITEⁱ	View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

O75712-1 [UniParc]FASTA Add 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

Checksum:ⁱE46D36E5835646A4

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_002147	12	G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar.	1
Natural variantⁱVAR_002148	12	G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar.	1
Natural variantⁱVAR_011978	32	R → W4 PublicationsCorresponds to variant dbSNP:rs1805063EnsemblClinVar.	1
Natural variantⁱVAR_015085	42	R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar.	1
Natural variantⁱVAR_002149	86	C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar.	1
Natural variantⁱVAR_015086	137	F → L in EKVP1. 1 Publication	1
Natural variantⁱVAR_015087	141	I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar.	1
Natural variantⁱVAR_002150	183	E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar.	1
Natural variantⁱVAR_022423	200	V → I2 PublicationsCorresponds to variant dbSNP:rs61734064EnsemblClinVar.	1

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS384.1
PIRⁱ	JE0274
NCBI Reference Sequences More...RefSeqⁱ	NP_001005752.1, NM_001005752.1 NP_076872.1, NM_024009.2
UniGeneⁱ	Hs.522561

Genome annotation databases

Ensemblⁱ	ENST00000373362; ENSP00000362460; ENSG00000188910 ENST00000373366; ENSP00000362464; ENSG00000188910
GeneIDⁱ	2707
KEGGⁱ	hsa:2707
UCSC genome browser More...UCSCⁱ	uc001bxx.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O75712	Gap junction protein		PANTR		270	UniRef100_O75712

Protein	Similar proteins		Species	Score	Length	Source
O75712	Gap junction protein		PANTR		270	UniRef90_O75712
Gap junction protein		TARSY		279
Gap junction protein		Cebus capucinus imitator		270
Gap junction protein		PONAB		270
Gap junction protein		CALJA		270
+10

Protein	Similar proteins		Species	Score	Length	Source
O75712	Gap junction beta-5 protein		HUMAN		273	UniRef50_O75712
Gap junction beta-3 protein		MOUSE		270
Gap junction beta-3 protein		RAT		270
Gap junction beta-3 protein		BOVIN		270
Gap junction protein		PANTR		270
+402

Cross-referencesⁱ

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
CCDSⁱ	CCDS384.1
PIRⁱ	JE0274
RefSeqⁱ	NP_001005752.1, NM_001005752.1 NP_076872.1, NM_024009.2
UniGeneⁱ	Hs.522561

3D structure databases

ProteinModelPortalⁱ	O75712
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108973, 7 interactors
CORUMⁱ	O75712
IntActⁱ	O75712, 5 interactors
STRINGⁱ	9606.ENSP00000362460

Protein family/group databases

TCDBⁱ	1.A.24.1.10 the gap junction-forming connexin (connexin) family

TCDBⁱ

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

PTM databases

iPTMnetⁱ	O75712
PhosphoSitePlusⁱ	O75712

Polymorphism and mutation databases

BioMutaⁱ	GJB3

BioMutaⁱ

GJB3

Proteomic databases

EPDⁱ	O75712
MaxQBⁱ	O75712
PaxDbⁱ	O75712
PeptideAtlasⁱ	O75712
PRIDEⁱ	O75712
ProteomicsDBⁱ	50170

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2707
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000373362; ENSP00000362460; ENSG00000188910 ENST00000373366; ENSP00000362464; ENSG00000188910
GeneIDⁱ	2707
KEGGⁱ	hsa:2707
UCSCⁱ	uc001bxx.4 human

Organism-specific databases

CTDⁱ	2707
DisGeNETⁱ	2707
EuPathDBⁱ	HostDB:ENSG00000188910.7
GeneCardsⁱ	GJB3
GeneReviewsⁱ	GJB3
H-InvDBⁱ	HIX0000402
HGNCⁱ	HGNC:4285 GJB3
HPAⁱ	HPA074472
MalaCardsⁱ	GJB3
MIMⁱ	133200 phenotype 603324 gene+phenotype 612644 phenotype
neXtProtⁱ	NX_O75712
OpenTargetsⁱ	ENSG00000188910
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
PharmGKBⁱ	PA28696
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IE21 Eukaryota ENOG410Y9C2 LUCA
GeneTreeⁱ	ENSGT00910000144026
HOGENOMⁱ	HOG000231127
HOVERGENⁱ	HBG009576
InParanoidⁱ	O75712
KOⁱ	K07622
OMAⁱ	HTLWHGF
OrthoDBⁱ	EOG091G0FKH
PhylomeDBⁱ	O75712
TreeFamⁱ	TF329606

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly

Reactomeⁱ

R-HSA-190861 Gap junction assembly

Miscellaneous databases

ChiTaRSⁱ	GJB3 human
GeneWikiⁱ	GJB3
GenomeRNAiⁱ	2707
Protein Ontology More...PROⁱ	PR:O75712
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000188910 Expressed in 140 organ(s), highest expression level in skin of leg
CleanExⁱ	HS_GJB3
Genevisibleⁱ	O75712 HS

Family and domain databases

Gene3Dⁱ	1.20.1440.80, 1 hit
InterProⁱ	View protein in InterPro IPR000500 Connexin IPR002269 Connexin31 IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf
PANTHERⁱ	PTHR11984 PTHR11984, 1 hit PTHR11984:SF65 PTHR11984:SF65, 1 hit
Pfamⁱ	View protein in Pfam PF00029 Connexin, 1 hit
PRINTSⁱ	PR00206 CONNEXIN PR01140 CONNEXINB3
SMARTⁱ	View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit
PROSITEⁱ	View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CXB3_HUMAN
Accessionⁱ	O75712Primary (citable) accession number: O75712 Secondary accession number(s): B2R790, Q2TAZ8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
	Last sequence update:	November 1, 1998
	Last modified:	September 12, 2018
	This is version 175 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - O75712 (CXB3_HUMAN)

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Gap junction beta-3 protein

Select a section on the left to see content.

<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

<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

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<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

Organism-specific databases

<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

Plasma membrane

Other locations

Plasma Membrane

Other locations

Topology

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

Protein-protein interaction databases

<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

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ