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UniProtKB - Q5T442 (CXG2_HUMAN)

Entry version 156 (23 Feb 2022)
Sequence version 1 (21 Dec 2004)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5T442

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q5T442

<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 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%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:GJC2
Synonyms:GJA12
<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)
<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 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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198835

<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

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 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%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>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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06317236I → M in SPG44; does not form functional homotypic channels. 1 PublicationCorresponds to variant dbSNP:rs75469429EnsemblClinVar.1
Lymphatic malformation 3 (LMPHM3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06387748S → L in LMPHM3. 1 PublicationCorresponds to variant dbSNP:rs267606847EnsemblClinVar.1
Natural variantiVAR_063880260R → C in LMPHM3. 1 PublicationCorresponds to variant dbSNP:rs267606846EnsemblClinVar.1

Keywords - Diseasei

Disease variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5T442, Tbio

Genetic variation 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 or proteolytic cleavage.<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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5T442

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

More...PaxDbi		Q5T442

PeptideAtlas

More...PeptideAtlasi		Q5T442

PRoteomics IDEntifications database

More...PRIDEi		Q5T442

ProteomicsDB: a multi-organism 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 C1 segment of cervical spinal cord and 168 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5T442, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198835, Tissue enriched (brain)

<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.

Interacts with TJP1 (By similarity).

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121419, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q5T442, 7 interactors

Molecular INTeraction database

More...MINTi		Q5T442

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355675

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5T442, protein

<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		Q5T442

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni108 – 178DisorderedSequence analysisAdd BLAST71
Regioni364 – 439DisorderedSequence analysisAdd BLAST76

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi146 – 172Acidic residuesSequence analysisAdd BLAST27

<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		ENOG502QV2G, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00970000193389

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_037388_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5T442

Identification of Orthologs from Complete Genome Data

More...OMAi		LVMKTDK

Database of Orthologous Groups

More...OrthoDBi		959629at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5T442

TreeFam database of animal gene trees

More...TreeFami		TF329606

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1440.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000500, Connexin
IPR019570, Connexin_CCC
IPR017990, Connexin_CS
IPR013092, Connexin_N
IPR038359, Connexin_N_sf

The PANTHER Classification System

More...PANTHERi		PTHR11984, PTHR11984, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00029, Connexin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00206, CONNEXIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00037, CNX, 1 hit
SM01089, Connexin_CCC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00407, CONNEXINS_1, 1 hit
PS00408, CONNEXINS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%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.

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. Truncated N-terminus.Curated
The sequence AAH35840 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 PublicationCorresponds to variant dbSNP:rs149590094Ensembl.1
Natural variantiVAR_06317236I → M in SPG44; does not form functional homotypic channels. 1 PublicationCorresponds to variant dbSNP:rs75469429EnsemblClinVar.1
Natural variantiVAR_06387748S → L in LMPHM3. 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:rs577325764EnsemblClinVar.1
Natural variantiVAR_063880260R → C in LMPHM3. 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

More...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

More...RefSeqi		NP_065168.2, NM_020435.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000366714; ENSP00000355675; ENSG00000198835

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57165

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57165

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000366714.3; ENSP00000355675.2; NM_020435.4; NP_065168.2

UCSC genome browser

More...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

3D structure databases

SMRiQ5T442
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121419, 8 interactors
IntActiQ5T442, 7 interactors
MINTiQ5T442
STRINGi9606.ENSP00000355675

PTM databases

iPTMnetiQ5T442
PhosphoSitePlusiQ5T442

Genetic variation databases

BioMutaiGJC2
DMDMi74744875

Proteomic databases

MassIVEiQ5T442
PaxDbiQ5T442
PeptideAtlasiQ5T442
PRIDEiQ5T442
ProteomicsDBi64429

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34662, 192 antibodies from 28 providers

The DNASU plasmid repository

More...DNASUi		57165

Genome annotation databases

EnsembliENST00000366714; ENSP00000355675; ENSG00000198835
GeneIDi57165
KEGGihsa:57165
MANE-SelectiENST00000366714.3; ENSP00000355675.2; NM_020435.4; NP_065168.2
UCSCiuc001hsk.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57165
DisGeNETi57165

GeneCards: human genes, protein and diseases

More...GeneCardsi		GJC2
GeneReviewsiGJC2
HGNCiHGNC:17494, GJC2
HPAiENSG00000198835, Tissue enriched (brain)
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
VEuPathDBiHostDB:ENSG00000198835

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QV2G, Eukaryota
GeneTreeiENSGT00970000193389
HOGENOMiCLU_037388_4_0_1
InParanoidiQ5T442
OMAiLVMKTDK
OrthoDBi959629at2759
PhylomeDBiQ5T442
TreeFamiTF329606

Enzyme and pathway databases

PathwayCommonsiQ5T442
ReactomeiR-HSA-190861, Gap junction assembly
SignaLinkiQ5T442

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57165, 3 hits in 1031 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GJC2

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

More...GenomeRNAii		57165
PharosiQ5T442, Tbio

Protein Ontology

More...PROi		PR:Q5T442
RNActiQ5T442, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198835, Expressed in C1 segment of cervical spinal cord and 168 other tissues
GenevisibleiQ5T442, HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500, Connexin
IPR019570, Connexin_CCC
IPR017990, Connexin_CS
IPR013092, Connexin_N
IPR038359, Connexin_N_sf
PANTHERiPTHR11984, PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029, Connexin, 1 hit
PRINTSiPR00206, CONNEXIN
SMARTiView protein in SMART
SM00037, CNX, 1 hit
SM01089, Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407, CONNEXINS_1, 1 hit
PS00408, CONNEXINS_2, 1 hit

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 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%5Fand%5Fisoforms">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: February 23, 2022
This is version 156 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

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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