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GJA8 gap junction protein alpha 8 [ Homo sapiens (human) ]

Gene ID: 2703, updated on 23-Oct-2022

Summary

Official Symbol
GJA8provided by HGNC
Official Full Name
gap junction protein alpha 8provided by HGNC
Primary source
HGNC:HGNC:4281
See related
Ensembl:ENSG00000121634 MIM:600897; AllianceGenome:HGNC:4281
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
CAE; CAE1; CX50; CZP1; MP70; CTRCT1
Summary
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
Expression
Restricted expression toward testis (RPKM 2.4) See more
Orthologs
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Genomic context

See GJA8 in Genome Data Viewer
Location:
1q21.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147902795..147914486)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146898390..146904865, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147374921..147381396)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 879 Neighboring gene PRAME family member 17 pseudogene Neighboring gene uncharacterized LOC105371229 Neighboring gene G protein-coupled receptor 89B

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
Cataract 1 multiple types
MedGen: C1861828 OMIM: 116200 GeneReviews: Not available
Compare labs
Chromosome 1q21.1 deletion syndrome
MedGen: C2675897 OMIM: 612474 GeneReviews: 1q21.1 Recurrent Microdeletion
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-02-23)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2012-02-23)

ClinGen Genome Curation PagePubMed

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
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables gap junction channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in gap junction-mediated intercellular transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of glutathione peroxidase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of granulocyte macrophage colony-stimulating factor production IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
gap junction alpha-8 protein
Names
cell surface glycoprotein
connexin 50
gap junction alpha 8
gap junction membrane channel protein alpha-8
gap junction protein alpha 8 50kDa
lens fiber protein MP70
lens intrinsic membrane protein MP70

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_016242.2 RefSeqGene

    Range
    5002..11476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005267.5NP_005258.2  gap junction alpha-8 protein

    See identical proteins and their annotated locations for NP_005258.2

    Status: REVIEWED

    Source sequence(s)
    AC239801, BQ184886, CD674975, DB476698
    Consensus CDS
    CCDS30834.1
    UniProtKB/Swiss-Prot
    P48165, Q9NP25
    UniProtKB/TrEMBL
    X5D7G1
    Related
    ENSP00000358238.1, ENST00000369235.2
    Conserved Domains (4) summary
    pfam00029
    Location:3229
    Connexin
    pfam03509
    Location:260325
    Connexin50; Gap junction alpha-8 protein (Cx50)
    pfam15623
    Location:326391
    CT47; Cancer/testis gene family 47
    pfam16791
    Location:401433
    Connexin40_C; Connexin 40 C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    147902795..147914486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509417.3XP_011507719.1  gap junction alpha-8 protein isoform X1

    Conserved Domains (5) summary
    smart00037
    Location:4476
    CNX; Connexin homologues
    smart01089
    Location:161227
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3228
    Connexin; Connexin
    pfam03509
    Location:260325
    Connexin50; Gap junction alpha-8 protein (Cx50)
    cl22451
    Location:334385
    ASF1_hist_chap; ASF1 like histone chaperone

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    146898390..146904865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)