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Protein

Gap junction gamma-2 protein

Gene

GJC2

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. May play a role in myelination in central and peripheral nervous systems.1 Publication

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.Curated

<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 involved in cell communication by electrical coupling Source: UniProtKB

GO - Biological processi

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 gamma-2 protein
Alternative name(s):
Connexin-46.6
Short name:
Cx46.6
Connexin-47
Short name:
Cx47
Gap junction alpha-12 protein
<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:GJC2
Synonyms:GJA12
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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:ENSG00000198835.3

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17494 GJC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608803 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5T442

<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 – 25CytoplasmicSequence analysisAdd BLAST25
<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>Transmembranei26 – 46HelicalSequence analysisAdd BLAST21
Topological domaini47 – 78ExtracellularSequence analysisAdd BLAST32
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21
Topological domaini100 – 216CytoplasmicSequence analysisAdd BLAST117
Transmembranei217 – 237HelicalSequence analysisAdd BLAST21
Topological domaini238 – 265ExtracellularSequence analysisAdd BLAST28
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Topological domaini287 – 439CytoplasmicSequence analysisAdd BLAST153

<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

Leukodystrophy, hypomyelinating, 2 (HLD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity.
See also OMIM:608804
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_02375490P → S in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315312EnsemblClinVar.1
Natural variantiVAR_023755272Y → D in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315314EnsemblClinVar.1
Natural variantiVAR_023756286M → T in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315311EnsemblClinVar.1
Spastic paraplegia 44, autosomal recessive (SPG44)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:613206
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06317236I → M in SPG44; does not form functional homotypic channels. 1 PublicationCorresponds to variant dbSNP:rs75469429EnsemblClinVar.1
Lymphedema, hereditary, 1C (LMPH1C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment.
See also OMIM:613480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06387748S → L in LMPH1C. 1 PublicationCorresponds to variant dbSNP:rs267606847EnsemblClinVar.1
Natural variantiVAR_063880260R → C in LMPH1C. 1 PublicationCorresponds to variant dbSNP:rs267606846EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
57165

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

More...
GeneReviewsi
GJC2

MalaCards human disease database

More...
MalaCardsi
GJC2
MIMi608804 phenotype
613206 phenotype
613480 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198835

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

More...
Orphaneti
320401 Autosomal recessive spastic paraplegia type 44
79452 Milroy disease
280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162389696

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GJC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74744875

<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_00000578421 – 439Gap junction gamma-2 proteinAdd BLAST439

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei371PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

More...
PaxDbi
Q5T442

PeptideAtlas

More...
PeptideAtlasi
Q5T442

PRoteomics IDEntifications database

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PRIDEi
Q5T442

ProteomicsDB human proteome resource

More...
ProteomicsDBi
64429

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5T442

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

More...
PhosphoSitePlusi
Q5T442

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198835 Expressed in 141 organ(s), highest expression level in C1 segment of cervical spinal cord

CleanEx database of gene expression profiles

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CleanExi
HS_GJC2

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5T442 HS

<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 TJP1 (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121419, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q5T442, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355675

<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
Q5T442

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi143 – 176Glu-richAdd BLAST34

<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. Gamma-type subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFK3 Eukaryota
ENOG410Z7PN LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157184

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231126

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG009576

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5T442

KEGG Orthology (KO)

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KOi
K07619

Identification of Orthologs from Complete Genome Data

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OMAi
ARAHDQN

Database of Orthologous Groups

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OrthoDBi
959629at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5T442

TreeFam database of animal gene trees

More...
TreeFami
TF329606

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1440.80, 2 hits

Integrated resource of protein families, domains and functional sites

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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>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.

Q5T442-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGEAIYSDE
60 70 80 90 100
QAKFTCNTRQ PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH
110 120 130 140 150
RLARASEQER RRALRRRPGP RRAPRAHLPP PHAGWPEPAD LGEEEPMLGL
160 170 180 190 200
GEEEEEEETG AAEGAGEEAE EAGAEEACTK AVGADGKAAG TPGPTGQHDG
210 220 230 240 250
RRRIQREGLM RVYVAQLVAR AAFEVAFLVG QYLLYGFEVR PFFPCSRQPC
260 270 280 290 300
PHVVDCFVSR PTEKTVFLLV MYVVSCLCLL LNLCEMAHLG LGSAQDAVRG
310 320 330 340 350
RRGPPASAPA PAPRPPPCAF PAAAAGLACP PDYSLVVRAA ERARAHDQNL
360 370 380 390 400
ANLALQALRD GAAAGDRDRD SSPCVGLPAA SRGPPRAGAP ASRTGSATSA
410 420 430
GTVGEQGRPG THERPGAKPR AGSEKGSASS RDGKTTVWI
Length:439
Mass (Da):47,002
Last modified:December 21, 2004 - 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:i09725B5DC476672A
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB94511 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH35840 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti83Q → H in AAB94511 (Ref. 1) Curated1
Sequence conflicti252H → Q in AAB94511 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06387619H → P Associated with lymphedema in a small family. 1 Publication1
Natural variantiVAR_06317236I → M in SPG44; does not form functional homotypic channels. 1 PublicationCorresponds to variant dbSNP:rs75469429EnsemblClinVar.1
Natural variantiVAR_06387748S → L in LMPH1C. 1 PublicationCorresponds to variant dbSNP:rs267606847EnsemblClinVar.1
Natural variantiVAR_02375490P → S in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315312EnsemblClinVar.1
Natural variantiVAR_063878125R → Q Associated with lymphedema in a small family. 1 Publication1
Natural variantiVAR_063879149G → S Associated with lymphedema in a small family. 1 PublicationCorresponds to variant dbSNP:rs577325764Ensembl.1
Natural variantiVAR_063880260R → C in LMPH1C. 1 PublicationCorresponds to variant dbSNP:rs267606846EnsemblClinVar.1
Natural variantiVAR_023755272Y → D in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315314EnsemblClinVar.1
Natural variantiVAR_023756286M → T in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315311EnsemblClinVar.1
Natural variantiVAR_063881316P → L Associated with lymphedema in a small family. 1 PublicationCorresponds to variant dbSNP:rs760502262EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF014643 Genomic DNA Translation: AAB94511.1 Different initiation.
AL359510 Genomic DNA No translation available.
BC035840 mRNA Translation: AAH35840.1 Different initiation.
BC089439 mRNA Translation: AAH89439.1
AY285161 mRNA Translation: AAP37488.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1569.1

NCBI Reference Sequences

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RefSeqi
NP_065168.2, NM_020435.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.100072
Hs.743715

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366714; ENSP00000355675; ENSG00000198835

Database of genes from NCBI RefSeq genomes

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GeneIDi
57165

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57165

UCSC genome browser

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UCSCi
uc001hsk.4 human

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF014643 Genomic DNA Translation: AAB94511.1 Different initiation.
AL359510 Genomic DNA No translation available.
BC035840 mRNA Translation: AAH35840.1 Different initiation.
BC089439 mRNA Translation: AAH89439.1
AY285161 mRNA Translation: AAP37488.1
CCDSiCCDS1569.1
RefSeqiNP_065168.2, NM_020435.3
UniGeneiHs.100072
Hs.743715

3D structure databases

ProteinModelPortaliQ5T442
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121419, 1 interactor
IntActiQ5T442, 1 interactor
STRINGi9606.ENSP00000355675

PTM databases

iPTMnetiQ5T442
PhosphoSitePlusiQ5T442

Polymorphism and mutation databases

BioMutaiGJC2
DMDMi74744875

Proteomic databases

PaxDbiQ5T442
PeptideAtlasiQ5T442
PRIDEiQ5T442
ProteomicsDBi64429

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366714; ENSP00000355675; ENSG00000198835
GeneIDi57165
KEGGihsa:57165
UCSCiuc001hsk.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57165
DisGeNETi57165
EuPathDBiHostDB:ENSG00000198835.3

GeneCards: human genes, protein and diseases

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GeneCardsi
GJC2
GeneReviewsiGJC2
HGNCiHGNC:17494 GJC2
MalaCardsiGJC2
MIMi608803 gene
608804 phenotype
613206 phenotype
613480 phenotype
neXtProtiNX_Q5T442
OpenTargetsiENSG00000198835
Orphaneti320401 Autosomal recessive spastic paraplegia type 44
79452 Milroy disease
280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation
PharmGKBiPA162389696

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IFK3 Eukaryota
ENOG410Z7PN LUCA
GeneTreeiENSGT00940000157184
HOGENOMiHOG000231126
HOVERGENiHBG009576
InParanoidiQ5T442
KOiK07619
OMAiARAHDQN
OrthoDBi959629at2759
PhylomeDBiQ5T442
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GJC2

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

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GenomeRNAii
57165

Protein Ontology

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PROi
PR:Q5T442

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000198835 Expressed in 141 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_GJC2
GenevisibleiQ5T442 HS

Family and domain databases

Gene3Di1.20.1440.80, 2 hits
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

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ProtoNeti
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<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 nameiCXG2_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: Q5T442
Secondary accession number(s): O43440, Q7Z7J2, Q8IWJ9
<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: November 8, 2005
Last sequence update: December 21, 2004
Last modified: January 16, 2019
This is version 139 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
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