GJD3
Gap junction delta-3 protein
Also known as: Cx30.2, CX31.9, CXD3_HUMAN, GJA11, GJC1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N144
- Gene
- GJD3
- Ensembl
- ENSG00000183153
- Chromosome
- 17
- Canonical length
- 294 aa
- Protein class
- Predicted membrane proteins
OverviewNCBI Gene
This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
294 residues, UniProt reviewed canonical sequence.
>Q8N144|GJD3
1 MGEWAFLGSL LDAVQLQSPL VGRLWLVVML IFRILVLATV GGAVFEDEQE EFVCNTLQPG
61 CRQTCYDRAF PVSHYRFWLF HILLLSAPPV LFVVYSMHRA GKEAGGAEAA AQCAPGLPEA
121 QCAPCALRAR RARRCYLLSV ALRLLAELTF LGGQALLYGF RVAPHFACAG PPCPHTVDCF
181 VSRPTEKTVF VLFYFAVGLL SALLSVAELG HLLWKGRPRA GERDNRCNRA HEEAQKLLPP
241 PPPPPPPPAL PSRRPGPEPC APPAYAHPAP ASLRECGSGR GKASPATGRR DLAILocalizationUniProt · AlphaFold · HPA
Whether an antibody against GJD3 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)
- 0.43
- Highest tissue expression
- 7.6 nTPM
Expression across tissuesHPA
Tissue
- spleen: 7.6 nTPM
- thyroid gland: 4 nTPM
- lung: 3.6 nTPM
- prostate: 3.6 nTPM
- heart muscle: 3.3 nTPM
- esophagus: 3.2 nTPM
Single-cell type
- lymphatic endothelial cells: 10 nCPM
- epicardial cells: 4.5 nCPM
- pericytes: 3.3 nCPM
- endometrial luminal cells: 2.5 nCPM
- vascular endothelial cells: 2.4 nCPM
- endometrial stromal cells: 2.2 nCPM
Immune cell
- NK-cell: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hypothalamus: 2.1 nTPM
- pons: 1.5 nTPM
- midbrain: 1.2 nTPM
- medulla oblongata: 1.1 nTPM
- basal ganglia: 1 nTPM
- thalamus: 0.9 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)
- 1.9
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.76
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
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
- cell communication
- cell-cell signaling
- gap junction assembly
- negative regulation of heart rate
- response to glucose
- negative regulation of cardiac conduction
Molecular functions
- gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
- monoatomic ion channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GJD3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GJD3 as an antibody target. Whether an autoantibody or antibody against GJD3 could matter depends on whether native GJD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GJD3 is annotated at the cell surface, where native GJD3 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 GJD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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