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UniProtKB - Q5T442 (CXG2_HUMAN)
Protein
Gap junction gamma-2 protein
Gene
GJC2
Organism
Homo sapiens (Human)
Status
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 PublicationCaution
It is uncertain whether Met-1 or Met-4 is the initiator.Curated
GO - Molecular functioni
- gap junction channel activity Source: GO_Central
- gap junction channel activity involved in cell communication by electrical coupling Source: UniProtKB
GO - Biological processi
- brain development Source: Ensembl
- cell-cell signaling Source: GO_Central
- cell communication by electrical coupling Source: UniProtKB
- negative regulation of G1/S transition of mitotic cell cycle Source: Ensembl
- positive regulation of calcium ion transmembrane transport Source: Ensembl
- positive regulation of gene expression Source: Ensembl
- positive regulation of oligodendrocyte progenitor proliferation Source: Ensembl
- regulation of protein phosphorylation Source: Ensembl
- response to toxic substance Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q5T442 |
Reactomei | R-HSA-190861, Gap junction assembly |
SignaLinki | Q5T442 |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction gamma-2 proteinAlternative name(s): Connexin-46.6 Short name: Cx46.6 Connexin-47 Short name: Cx47 Gap junction alpha-12 protein |
Gene namesi | Name:GJC2 Synonyms:GJA12 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17494, GJC2 |
MIMi | 608803, gene |
neXtProti | NX_Q5T442 |
VEuPathDBi | HostDB:ENSG00000198835 |
Subcellular locationi
Plasma membrane
Other locations
Plasma Membrane
- connexin complex Source: GO_Central
Other locations
- gap junction Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- myelin sheath Source: Ensembl
- paranode region of axon Source: Ensembl
- perikaryon Source: Ensembl
- proximal neuron projection Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 25 | CytoplasmicSequence analysisAdd BLAST | 25 | |
Transmembranei | 26 – 46 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 47 – 78 | ExtracellularSequence analysisAdd BLAST | 32 | |
Transmembranei | 79 – 99 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 100 – 216 | CytoplasmicSequence analysisAdd BLAST | 117 | |
Transmembranei | 217 – 237 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 238 – 265 | ExtracellularSequence analysisAdd BLAST | 28 | |
Transmembranei | 266 – 286 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 287 – 439 | CytoplasmicSequence analysisAdd BLAST | 153 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023754 | 90 | P → S in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315312EnsemblClinVar. | 1 | |
Natural variantiVAR_023755 | 272 | Y → D in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315314EnsemblClinVar. | 1 | |
Natural variantiVAR_023756 | 286 | M → 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063172 | 36 | I → 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063877 | 48 | S → L in LMPHM3. 1 PublicationCorresponds to variant dbSNP:rs267606847EnsemblClinVar. | 1 | |
Natural variantiVAR_063880 | 260 | R → C in LMPHM3. 1 PublicationCorresponds to variant dbSNP:rs267606846EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Hereditary spastic paraplegia, Leukodystrophy, NeurodegenerationOrganism-specific databases
DisGeNETi | 57165 |
GeneReviewsi | GJC2 |
MalaCardsi | GJC2 |
MIMi | 608804, phenotype 613206, phenotype 613480, phenotype |
OpenTargetsi | ENSG00000198835 |
Orphaneti | 320401, Autosomal recessive spastic paraplegia type 44 79452, Milroy disease 280282, Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
PharmGKBi | PA162389696 |
Miscellaneous databases
Pharosi | Q5T442, Tbio |
Genetic variation databases
BioMutai | GJC2 |
DMDMi | 74744875 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000057842 | 1 – 439 | Gap junction gamma-2 proteinAdd BLAST | 439 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 371 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q5T442 |
PaxDbi | Q5T442 |
PeptideAtlasi | Q5T442 |
PRIDEi | Q5T442 |
ProteomicsDBi | 64429 |
PTM databases
iPTMneti | Q5T442 |
PhosphoSitePlusi | Q5T442 |
Expressioni
Tissue specificityi
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.1 Publication
Gene expression databases
Bgeei | ENSG00000198835, Expressed in C1 segment of cervical spinal cord and 168 other tissues |
Genevisiblei | Q5T442, HS |
Organism-specific databases
HPAi | ENSG00000198835, Tissue enriched (brain) |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins.
Interacts with TJP1 (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 121419, 8 interactors |
IntActi | Q5T442, 7 interactors |
MINTi | Q5T442 |
STRINGi | 9606.ENSP00000355675 |
Miscellaneous databases
RNActi | Q5T442, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 108 – 178 | DisorderedSequence analysisAdd BLAST | 71 | |
Regioni | 364 – 439 | DisorderedSequence analysisAdd BLAST | 76 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 146 – 172 | Acidic residuesSequence analysisAdd BLAST | 27 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QV2G, Eukaryota |
GeneTreei | ENSGT00970000193389 |
HOGENOMi | CLU_037388_4_0_1 |
InParanoidi | Q5T442 |
OMAi | LVMKTDK |
OrthoDBi | 959629at2759 |
PhylomeDBi | Q5T442 |
TreeFami | TF329606 |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN |
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 |
i Sequence
Sequence statusi: Complete.
Q5T442-1 [UniParc]FASTAAdd to basket
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
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 83 | Q → H in AAB94511 (Ref. 1) Curated | 1 | |
Sequence conflicti | 252 | H → Q in AAB94511 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063876 | 19 | H → P Associated with lymphedema in a small family. 1 PublicationCorresponds to variant dbSNP:rs149590094Ensembl. | 1 | |
Natural variantiVAR_063172 | 36 | I → M in SPG44; does not form functional homotypic channels. 1 PublicationCorresponds to variant dbSNP:rs75469429EnsemblClinVar. | 1 | |
Natural variantiVAR_063877 | 48 | S → L in LMPHM3. 1 PublicationCorresponds to variant dbSNP:rs267606847EnsemblClinVar. | 1 | |
Natural variantiVAR_023754 | 90 | P → S in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315312EnsemblClinVar. | 1 | |
Natural variantiVAR_063878 | 125 | R → Q Associated with lymphedema in a small family. 1 Publication | 1 | |
Natural variantiVAR_063879 | 149 | G → S Associated with lymphedema in a small family. 1 PublicationCorresponds to variant dbSNP:rs577325764EnsemblClinVar. | 1 | |
Natural variantiVAR_063880 | 260 | R → C in LMPHM3. 1 PublicationCorresponds to variant dbSNP:rs267606846EnsemblClinVar. | 1 | |
Natural variantiVAR_023755 | 272 | Y → D in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315314EnsemblClinVar. | 1 | |
Natural variantiVAR_023756 | 286 | M → T in HLD2. 1 PublicationCorresponds to variant dbSNP:rs74315311EnsemblClinVar. | 1 | |
Natural variantiVAR_063881 | 316 | P → L Associated with lymphedema in a small family. 1 PublicationCorresponds to variant dbSNP:rs760502262EnsemblClinVar. | 1 |
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 |
CCDSi | CCDS1569.1 |
RefSeqi | NP_065168.2, NM_020435.3 |
Genome annotation databases
Ensembli | ENST00000366714; ENSP00000355675; ENSG00000198835 |
GeneIDi | 57165 |
KEGGi | hsa:57165 |
MANE-Selecti | ENST00000366714.3; ENSP00000355675.2; NM_020435.4; NP_065168.2 |
UCSCi | uc001hsk.4, human |
Similar proteinsi
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 |
CCDSi | CCDS1569.1 |
RefSeqi | NP_065168.2, NM_020435.3 |
3D structure databases
SMRi | Q5T442 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121419, 8 interactors |
IntActi | Q5T442, 7 interactors |
MINTi | Q5T442 |
STRINGi | 9606.ENSP00000355675 |
PTM databases
iPTMneti | Q5T442 |
PhosphoSitePlusi | Q5T442 |
Genetic variation databases
BioMutai | GJC2 |
DMDMi | 74744875 |
Proteomic databases
MassIVEi | Q5T442 |
PaxDbi | Q5T442 |
PeptideAtlasi | Q5T442 |
PRIDEi | Q5T442 |
ProteomicsDBi | 64429 |
Protocols and materials databases
Antibodypediai | 34662, 192 antibodies from 28 providers |
DNASUi | 57165 |
Genome annotation databases
Ensembli | ENST00000366714; ENSP00000355675; ENSG00000198835 |
GeneIDi | 57165 |
KEGGi | hsa:57165 |
MANE-Selecti | ENST00000366714.3; ENSP00000355675.2; NM_020435.4; NP_065168.2 |
UCSCi | uc001hsk.4, human |
Organism-specific databases
CTDi | 57165 |
DisGeNETi | 57165 |
GeneCardsi | GJC2 |
GeneReviewsi | GJC2 |
HGNCi | HGNC:17494, GJC2 |
HPAi | ENSG00000198835, Tissue enriched (brain) |
MalaCardsi | GJC2 |
MIMi | 608803, gene 608804, phenotype 613206, phenotype 613480, phenotype |
neXtProti | NX_Q5T442 |
OpenTargetsi | ENSG00000198835 |
Orphaneti | 320401, Autosomal recessive spastic paraplegia type 44 79452, Milroy disease 280282, Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
PharmGKBi | PA162389696 |
VEuPathDBi | HostDB:ENSG00000198835 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV2G, Eukaryota |
GeneTreei | ENSGT00970000193389 |
HOGENOMi | CLU_037388_4_0_1 |
InParanoidi | Q5T442 |
OMAi | LVMKTDK |
OrthoDBi | 959629at2759 |
PhylomeDBi | Q5T442 |
TreeFami | TF329606 |
Enzyme and pathway databases
PathwayCommonsi | Q5T442 |
Reactomei | R-HSA-190861, Gap junction assembly |
SignaLinki | Q5T442 |
Miscellaneous databases
BioGRID-ORCSi | 57165, 3 hits in 1031 CRISPR screens |
GeneWikii | GJC2 |
GenomeRNAii | 57165 |
Pharosi | Q5T442, Tbio |
PROi | PR:Q5T442 |
RNActi | Q5T442, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198835, Expressed in C1 segment of cervical spinal cord and 168 other tissues |
Genevisiblei | Q5T442, HS |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN |
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 |
MobiDBi | Search... |
Entry informationi
Entry namei | CXG2_HUMAN | |
Accessioni | Q5T442Primary (citable) accession number: Q5T442 Secondary accession number(s): O43440, Q7Z7J2, Q8IWJ9 | |
Entry historyi | Integrated 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. | ||
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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families