Seroatlas · Human Serome Atlas

GJC3

Gap junction gamma-3 protein

Also known as: CX30.2, CXG3_HUMAN, GJE1

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

Protein identityUniProt · HPA

UniProt accession: Q8NFK1
Gene: GJC3
Ensembl: ENSG00000176402
Chromosome: 7
Canonical length: 279 aa
Protein class: Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

279 residues, UniProt reviewed canonical sequence.

>Q8NFK1|GJC3
     1  MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE FVCHTQQPGC
    61  KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI WHWELSGKGK EEETLIQGRE
   121  GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA ALGLQYHLYG FQMPSSFACR REPCLGSITC
   181  NLSRPSEKTI FLKTMFGVSG FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR
   241  HKKATDSLPV VETKEQFQEA VPGRSLAQEK QRPVGPRDA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJC3 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: 12 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 12 nTPM
pancreas: 11 nTPM
breast: 8 nTPM
prostate: 4.6 nTPM
liver: 2.7 nTPM
skin: 2.5 nTPM

Single-cell type

lacrimal acinar cells: 160 nCPM
breast secretory cells: 52 nCPM
schwann cells: 45 nCPM
breast hormone-responsive cells: 44 nCPM
salivary acinar cells: 30 nCPM
pancreatic acinar cells: 19 nCPM

Immune cell

T-reg: 0.4 nTPM
memory CD4 T-cell: 0.3 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM

Brain region

cerebral cortex: 5.6 nTPM
amygdala: 4.7 nTPM
basal ganglia: 4.7 nTPM
hippocampal formation: 4.5 nTPM
thalamus: 4.4 nTPM
midbrain: 4.1 nTPM

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): 1.35
gnomAD pLI: 0
gnomAD missense Z: -0.1
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 GJC3 as an antibody target. Whether an autoantibody or antibody against GJC3 could matter depends on whether native GJC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GJC3 is annotated at the cell surface, where native GJC3 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 GJC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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