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

Gene ID: 2700, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:4277
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
mouse all
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Genomic context

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See GJA3 in Genome Data Viewer
Location:
13q12.11
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20138255..20161565, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19334689..19357997, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20712394..20735191, 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 ATAC-STARR-seq lymphoblastoid active region 7415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5149 Neighboring gene uncharacterized LOC124903128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20710718-20711218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20715699-20716200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20725717-20726216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5152 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene gap junction protein beta 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree. Ding X, et al. Mol Vis, 2011. PMID 21647269, Free PMC Article
  2. Identification of a novel GJA3 mutation in congenital nuclear cataract. Yuan L, et al. Optom Vis Sci, 2015 Mar. PMID 25635993
  3. Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing. Guo Y, et al. Indian J Biochem Biophys, 2013 Aug. PMID 24772942
  4. Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death. Ren Q, et al. PLoS One, 2013. PMID 24019978, Free PMC Article
  5. A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family. Zhou D, et al. Mol Vis, 2013. PMID 23592915, Free PMC Article

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
    Title: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
  2. Connexins in Cancer, the Possible Role of Connexin46 as a Cancer Stem Cell-Determining Protein.
    Title: Connexins in Cancer, the Possible Role of Connexin46 as a Cancer Stem Cell-Determining Protein.
  3. GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.
    Title: GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.
  4. Connexins in melanoma: Potential role of Cx46 in its aggressiveness.
    Title: Connexins in melanoma: Potential role of Cx46 in its aggressiveness.
  5. Connexin46 Expression Enhances Cancer Stem Cell and Epithelial-to-Mesenchymal Transition Characteristics of Human Breast Cancer MCF-7 Cells.
    Title: Connexin46 Expression Enhances Cancer Stem Cell and Epithelial-to-Mesenchymal Transition Characteristics of Human Breast Cancer MCF-7 Cells.
  6. Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance.
    Title: Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance.
  7. Connexin-46 Contained in Extracellular Vesicles Enhance Malignancy Features in Breast Cancer Cells.
    Title: Connexin-46 Contained in Extracellular Vesicles Enhance Malignancy Features in Breast Cancer Cells.
  8. Lens Connexin Channels Show Differential Permeability to Signaling Molecules.
    Title: Lens Connexin Channels Show Differential Permeability to Signaling Molecules.
  9. Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.
    Title: Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.
  10. Mutation in Cx46 gene is associated with congenital cataract.
    Title: Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cataract 14 multiple types
MedGen: C1866078 OMIM: 601885 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Identification of novel germline polymorphisms governing capecitabine sensitivity.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_021954.4 → NP_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
    Q0VAB7, Q9H537, Q9Y6H8
    Related
    ENSP00000241125.3, ENST00000241125.4
    Conserved Domains (4) summary
    smart00037
    Location:44 → 76
    CNX; Connexin homologues
    smart01089
    Location:159 → 225
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3 → 227
    Connexin; Connexin
    pfam16791
    Location:291 → 435
    Connexin40_C; Connexin 40 C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    20138255..20161565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011533350.1

    UniProtKB/Swiss-Prot
    Q0VAB7, Q9H537, Q9Y6H8
    Conserved Domains (4) summary
    smart00037
    Location:44 → 76
    CNX; Connexin homologues
    smart01089
    Location:159 → 225
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3 → 227
    Connexin; Connexin
    pfam16791
    Location:291 → 435
    Connexin40_C; Connexin 40 C-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    19334689..19357997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374462.1 → XP_054230437.1  gap junction alpha-3 protein isoform X1

    UniProtKB/TrEMBL
    A0A654IE12
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6H8.4 GenPept UniProtKB/Swiss-Prot:Q9Y6H8

Gene LinkOut

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