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GJA3 gap junction protein alpha 3 [ Homo sapiens (human) ]

Gene ID: 2700, updated on 4-May-2020

Summary

Official Symbol
GJA3provided by HGNC
Official Full Name
gap junction protein alpha 3provided by HGNC
Primary source
HGNC:HGNC:4277
See related
Ensembl:ENSG00000121743 MIM:121015
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CX46; CZP3; CTRCT14
Summary
The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
Expression
Biased expression in heart (RPKM 3.2), placenta (RPKM 1.8) and 3 other tissues See more
Orthologs

Genomic context

See GJA3 in Genome Data Viewer
Location:
13q12.11
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (20138252..20161327, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20712394..20735524, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370101 Neighboring gene long intergenic non-protein coding RNA 1072 Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene gap junction protein beta 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Zonular pulverulent cataract 3
MedGen: C1866078 OMIM: 601885 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of novel germline polymorphisms governing capecitabine sensitivity.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction hemi-channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell communication IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction-mediated intercellular transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
connexin complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gap junction alpha-3 protein
Names
connexin-46
gap junction alpha 3
gap junction protein, alpha 3, 46kDa

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016399.1 RefSeqGene

    Range
    4993..27790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021954.4NP_068773.2  gap junction alpha-3 protein

    See identical proteins and their annotated locations for NP_068773.2

    Status: REVIEWED

    Source sequence(s)
    AL138688, BF726530, DR003755
    Consensus CDS
    CCDS9289.1
    UniProtKB/Swiss-Prot
    Q9Y6H8
    Related
    ENSP00000241125.3, ENST00000241125.4
    Conserved Domains (4) summary
    smart00037
    Location:4476
    CNX; Connexin homologues
    smart01089
    Location:159225
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3227
    Connexin; Connexin
    pfam16791
    Location:291435
    Connexin40_C; Connexin 40 C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    20138252..20161327 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535048.2XP_011533350.1  gap junction alpha-3 protein isoform X1

    See identical proteins and their annotated locations for XP_011533350.1

    UniProtKB/Swiss-Prot
    Q9Y6H8
    Conserved Domains (4) summary
    smart00037
    Location:4476
    CNX; Connexin homologues
    smart01089
    Location:159225
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3227
    Connexin; Connexin
    pfam16791
    Location:291435
    Connexin40_C; Connexin 40 C-terminal domain
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