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Entry version 79 (10 Feb 2021)
Sequence version 1 (13 Jun 2012)
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Protein

Gap junction protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Unreviewed-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 transcript 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.UniRule annotation

<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

<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 processHearingARBA annotation

<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 proteinUniRule annotation
<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:GJB2Imported
Synonyms:CX26Imported, CXNEImported
ORF Names:hCG_18943Imported
<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)Imported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Organism-specific databases

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

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%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>Transmembranei23 – 40HelicalSequence analysisAdd BLAST18
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Transmembranei132 – 158HelicalSequence analysisAdd BLAST27
Transmembranei191 – 215HelicalSequence analysisAdd BLAST25

Keywords - Cellular componenti

Cell junction, Cell membraneARBA annotation, Gap junctionUniRule annotationARBA annotation, Membrane

<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 162 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
H9U1J4, baseline and differential

<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 connexon is composed of a hexamer of connexins.

UniRule annotation

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
H9U1J4

<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

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

More...
SMRi
H9U1J4

Database of comparative protein structure models

More...
ModBasei
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini42 – 75CNXInterPro annotationAdd BLAST34
Domaini146 – 213Connexin_CCCInterPro annotationAdd BLAST68

<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.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helixSequence analysisARBA annotation

Phylogenomic databases

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_037388_4_1_1

Identification of Orthologs from Complete Genome Data

More...
OMAi
YAFYFMY

Database of Orthologous Groups

More...
OrthoDBi
1043502at2759

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.

H9U1J4-1 [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:June 13, 2012 - 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:iD35293C6747E908C
GO

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
JQ342677 mRNA Translation: AFG29040.1
JQ595559 Genomic DNA Translation: AFG29041.1
CH471075 Genomic DNA Translation: EAX08252.1
CH471075 Genomic DNA Translation: EAX08253.1
MH188083 Genomic DNA Translation: QAT92916.1
MH234064 Genomic DNA Translation: QAU32526.1
MH234066 Genomic DNA Translation: QAU32528.1
MH234067 Genomic DNA Translation: QAU32529.1
MH234068 Genomic DNA Translation: QAU32530.1
MH234069 Genomic DNA Translation: QAU32531.1
MH234071 Genomic DNA Translation: QAU32533.1
MH234072 Genomic DNA Translation: QAU32534.1
MH234073 Genomic DNA Translation: QAU32535.1
MH234074 Genomic DNA Translation: QAU32536.1
MH234075 Genomic DNA Translation: QAU32537.1
MH234076 Genomic DNA Translation: QAU32538.1
MH234077 Genomic DNA Translation: QAU32539.1
MH234078 Genomic DNA Translation: QAU32540.1
MH234079 Genomic DNA Translation: QAU32541.1
MH234080 Genomic DNA Translation: QAU32542.1
MH234081 Genomic DNA Translation: QAU32543.1
MH234082 Genomic DNA Translation: QAU32544.1
MH234083 Genomic DNA Translation: QAU32545.1
MH234084 Genomic DNA Translation: QAU32546.1
MH234085 Genomic DNA Translation: QAU32547.1
MH234086 Genomic DNA Translation: QAU32548.1
MH234087 Genomic DNA Translation: QAU32549.1
MH234088 Genomic DNA Translation: QAU32550.1
MH234089 Genomic DNA Translation: QAU32551.1
MH234090 Genomic DNA Translation: QAU32552.1
MH234091 Genomic DNA Translation: QAU32553.1
MH234092 Genomic DNA Translation: QAU32554.1
MH234093 Genomic DNA Translation: QAU32555.1
MH234094 Genomic DNA Translation: QAU32556.1
MH234095 Genomic DNA Translation: QAU32557.1
MH234096 Genomic DNA Translation: QAU32558.1
MH234097 Genomic DNA Translation: QAU32559.1
MH234098 Genomic DNA Translation: QAU32560.1
MH234099 Genomic DNA Translation: QAU32561.1
MH234100 Genomic DNA Translation: QAU32562.1
MH234101 Genomic DNA Translation: QAU32563.1
MH234102 Genomic DNA Translation: QAU32564.1
MH234103 Genomic DNA Translation: QAU32565.1
MH234104 Genomic DNA Translation: QAU32566.1
MH234106 Genomic DNA Translation: QAU32568.1
MH234107 Genomic DNA Translation: QAU32569.1
MH234108 Genomic DNA Translation: QAU32570.1
MH234109 Genomic DNA Translation: QAU32571.1
MH234110 Genomic DNA Translation: QAU32572.1
MH234111 Genomic DNA Translation: QAU32573.1
MH234112 Genomic DNA Translation: QAU32574.1
MH234114 Genomic DNA Translation: QAU32576.1
MH234116 Genomic DNA Translation: QAU32578.1
MH234117 Genomic DNA Translation: QAU32579.1
MH234118 Genomic DNA Translation: QAU32580.1
MH234119 Genomic DNA Translation: QAU32581.1
MH311556 Genomic DNA Translation: QBA97384.1
MH311557 Genomic DNA Translation: QBA97385.1
LT990253 Genomic DNA Translation: VZP20053.1

NCBI Reference Sequences

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

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2706

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2706

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JQ342677 mRNA Translation: AFG29040.1
JQ595559 Genomic DNA Translation: AFG29041.1
CH471075 Genomic DNA Translation: EAX08252.1
CH471075 Genomic DNA Translation: EAX08253.1
MH188083 Genomic DNA Translation: QAT92916.1
MH234064 Genomic DNA Translation: QAU32526.1
MH234066 Genomic DNA Translation: QAU32528.1
MH234067 Genomic DNA Translation: QAU32529.1
MH234068 Genomic DNA Translation: QAU32530.1
MH234069 Genomic DNA Translation: QAU32531.1
MH234071 Genomic DNA Translation: QAU32533.1
MH234072 Genomic DNA Translation: QAU32534.1
MH234073 Genomic DNA Translation: QAU32535.1
MH234074 Genomic DNA Translation: QAU32536.1
MH234075 Genomic DNA Translation: QAU32537.1
MH234076 Genomic DNA Translation: QAU32538.1
MH234077 Genomic DNA Translation: QAU32539.1
MH234078 Genomic DNA Translation: QAU32540.1
MH234079 Genomic DNA Translation: QAU32541.1
MH234080 Genomic DNA Translation: QAU32542.1
MH234081 Genomic DNA Translation: QAU32543.1
MH234082 Genomic DNA Translation: QAU32544.1
MH234083 Genomic DNA Translation: QAU32545.1
MH234084 Genomic DNA Translation: QAU32546.1
MH234085 Genomic DNA Translation: QAU32547.1
MH234086 Genomic DNA Translation: QAU32548.1
MH234087 Genomic DNA Translation: QAU32549.1
MH234088 Genomic DNA Translation: QAU32550.1
MH234089 Genomic DNA Translation: QAU32551.1
MH234090 Genomic DNA Translation: QAU32552.1
MH234091 Genomic DNA Translation: QAU32553.1
MH234092 Genomic DNA Translation: QAU32554.1
MH234093 Genomic DNA Translation: QAU32555.1
MH234094 Genomic DNA Translation: QAU32556.1
MH234095 Genomic DNA Translation: QAU32557.1
MH234096 Genomic DNA Translation: QAU32558.1
MH234097 Genomic DNA Translation: QAU32559.1
MH234098 Genomic DNA Translation: QAU32560.1
MH234099 Genomic DNA Translation: QAU32561.1
MH234100 Genomic DNA Translation: QAU32562.1
MH234101 Genomic DNA Translation: QAU32563.1
MH234102 Genomic DNA Translation: QAU32564.1
MH234103 Genomic DNA Translation: QAU32565.1
MH234104 Genomic DNA Translation: QAU32566.1
MH234106 Genomic DNA Translation: QAU32568.1
MH234107 Genomic DNA Translation: QAU32569.1
MH234108 Genomic DNA Translation: QAU32570.1
MH234109 Genomic DNA Translation: QAU32571.1
MH234110 Genomic DNA Translation: QAU32572.1
MH234111 Genomic DNA Translation: QAU32573.1
MH234112 Genomic DNA Translation: QAU32574.1
MH234114 Genomic DNA Translation: QAU32576.1
MH234116 Genomic DNA Translation: QAU32578.1
MH234117 Genomic DNA Translation: QAU32579.1
MH234118 Genomic DNA Translation: QAU32580.1
MH234119 Genomic DNA Translation: QAU32581.1
MH311556 Genomic DNA Translation: QBA97384.1
MH311557 Genomic DNA Translation: QBA97385.1
LT990253 Genomic DNA Translation: VZP20053.1
RefSeqiNP_003995.2, NM_004004.5
XP_011533351.1, XM_011535049.2

3D structure databases

SMRiH9U1J4
ModBaseiSearch...

Chemistry databases

BindingDBiH9U1J4

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
4587, 319 antibodies

Genome annotation databases

GeneIDi2706
KEGGihsa:2706

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2706
VEuPathDBiHostDB:ENSG00000165474.5

Phylogenomic databases

HOGENOMiCLU_037388_4_1_1
OMAiYAFYFMY
OrthoDBi1043502at2759

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
2706, 32 hits in 873 CRISPR screens

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

More...
ChiTaRSi
GJB2, human

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

More...
GenomeRNAii
2706

Gene expression databases

BgeeiENSG00000165474, Expressed in ectocervix and 162 other tissues
ExpressionAtlasiH9U1J4, baseline and differential

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiH9U1J4_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: H9U1J4
<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/TrEMBL: June 13, 2012
Last sequence update: June 13, 2012
Last modified: February 10, 2021
This is version 79 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 statusiUnreviewed (UniProtKB/TrEMBL)
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.
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