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

Gene ID: 2703, updated on 23-Dec-2018

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
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

Genomic context

See GJA8 in Genome Data Viewer
Location:
1q21.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (147902820..147915287)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147374946..147381396)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723321 Neighboring gene gap junction protein alpha 5 Neighboring gene PRAME family member 17 pseudogene Neighboring gene uncharacterized LOC105371229 Neighboring gene G protein-coupled receptor 89B Neighboring gene uncharacterized LOC105371228 Neighboring gene PDZ domain containing 1 pseudogene 1 Neighboring gene transfer RNA-Arg (CCT) 6-2

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
1q21.1 recurrent microdeletion
MedGen: C2675897 OMIM: 612474 GeneReviews: 1q21.1 Recurrent Microdeletion
Compare labs
Cataract 1
MedGen: C1861828 OMIM: 116200 GeneReviews: Not available
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 BioSystems

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
channel activity TAS
Traceable Author Statement
more info
PubMed 
gap junction channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
connexin complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
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)

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_016242.1 RefSeqGene

    Range
    5001..11451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005267.4NP_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
    UniProtKB/TrEMBL
    X5D7G1
    Related
    ENSP00000358238.1, ENST00000369235.1
    Conserved Domains (6) 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)
    pfam16791
    Location:412433
    Connexin40_C; Connexin 40 C-terminal domain
    cl22451
    Location:334385
    ASF1_hist_chap; ASF1 like histone chaperone

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    147902820..147915287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509417.2XP_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

RNA

  1. XR_002956281.1 RNA Sequence

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