GJA4

Protein identityUniProt · HPA

UniProt accession

P35212

Gene

GJA4

Ensembl

ENSG00000187513

Chromosome

1

Canonical length

333 aa

Protein class

Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>P35212|GJA4
     1  MGDWGFLEKL LDQVQEHSTV VGKIWLTVLF IFRILILGLA GESVWGDEQS DFECNTAQPG
    61  CTNVCYDQAF PISHIRYWVL QFLFVSTPTL VYLGHVIYLS RREERLRQKE GELRALPAKD
   121  PQVERALAAV ERQMAKISVA EDGRLRIRGA LMGTYVASVL CKSVLEAGFL YGQWRLYGWT
   181  MEPVFVCQRA PCPYLVDCFV SRPTEKTIFI IFMLVVGLIS LVLNLLELVH LLCRCLSRGM
   241  RARQGQDAPP TQGTSSDPYT DQVFFYLPVG QGPSSPPCPT YNGLSSSEQN WANLTTEERL
   301  ASSRPPLFLD PPPQNGQKPP SRPSSSASKK QYV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJA4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

107 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GJA4.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 58 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cutaneous venous malformation
• Hepatic hemangioma
• Skin hemangioma

ReferencesPubMed · IEDB

Publications for GJA4 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.78

gnomAD pLI

0.06

gnomAD missense Z

1.21

DepMap mean gene effect

-0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood vessel development
• cell-cell junction assembly
• cell-cell signaling

Molecular functions

• gap junction channel activity

Cellular components

• connexin complex
• gap junction
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Connexin
• Connexin, N-terminal
• Connexin, conserved site
• Connexin, cysteine-rich domain
• Connexin, N-terminal domain superfamily
• Connexin
• Gap junction alpha-4 protein (Cx37)

KeywordsUniProt

• Cell junction
• Cell membrane
• Gap junction
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GJA4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• OPRM1