Seroatlas · Human Serome Atlas

GJA3

Gap junction alpha-3 protein

Also known as: CX46, CXA3_HUMAN, CZP3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y6H8
Gene: GJA3
Ensembl: ENSG00000121743
Chromosome: 13
Canonical length: 435 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q9Y6H8|GJA3
     1  MGDWSFLGRL LENAQEHSTV IGKVWLTVLF IFRILVLGAA AEDVWGDEQS DFTCNTQQPG
    61  CENVCYDRAF PISHIRFWAL QIIFVSTPTL IYLGHVLHIV RMEEKKKERE EEEQLKRESP
   121  SPKEPPQDNP SSRDDRGRVR MAGALLRTYV FNIIFKTLFE VGFIAGQYFL YGFELKPLYR
   181  CDRWPCPNTV DCFISRPTEK TIFIIFMLAV ACASLLLNML EIYHLGWKKL KQGVTSRLGP
   241  DASEAPLGTA DPPPLPPSSR PPAVAIGFPP YYAHTAAPLG QARAVGYPGA PPPAADFKLL
   301  ALTEARGKGQ SAKLYNGHHH LLMTEQNWAN QAAERQPPAL KAYPAASTPA APSPVGSSSP
   361  PLAHEAEAGA APLLLDGSGS SLEGSALAGT PEEEEQAVTT AAQMHQPPLP LGDPGRASKA
   421  SRASSGRARP EDLAI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJA3 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): 0.53
Highest tissue expression: 7.3 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 7.3 nTPM
parathyroid gland: 3.8 nTPM
placenta: 2.3 nTPM
testis: 1.2 nTPM
blood vessel: 1.1 nTPM
tonsil: 1 nTPM

Single-cell type

podocytes: 15 nCPM
cardiomyocytes: 11 nCPM
undifferentiated spermatogonia: 8.5 nCPM
pancreatic islet cells: 5.2 nCPM
differentiating spermatogonia: 2.6 nCPM
esophageal basal cells: 2.5 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

basal ganglia: 0.4 nTPM
thalamus: 0.2 nTPM
cerebral cortex: 0.1 nTPM
midbrain: 0.1 nTPM
white matter: 0.1 nTPM
amygdala: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GJA3.

Disease | AllUniProt

Conditions GJA3 is implicated in, by any mechanism.

Cataract 14, multiple types (CTRCT14) MIM:601885

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 285 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cataract 14 multiple types
Developmental cataract
Congenital cataracts-facial dysmorphism-neuropathy syndrome
GJA3-related disorder

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): 1.49
gnomAD pLI: 0
gnomAD missense Z: 1.71
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GJA3 as an antibody target. Whether an autoantibody or antibody against GJA3 could matter depends on whether native GJA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GJA3 is annotated at the cell surface, where native GJA3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GJA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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