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

    Gene ID: 2700, updated on 27-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
    • 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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