Seroatlas · Human Serome Atlas

GJD4

Gap junction delta-4 protein

Also known as: CX40.1, CXD4_HUMAN, FLJ90023

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

Protein identityUniProt · HPA

UniProt accession: Q96KN9
Gene: GJD4
Ensembl: ENSG00000177291
Chromosome: 10
Canonical length: 370 aa
Protein class: Predicted membrane proteins, Transporters

OverviewNCBI Gene

Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

370 residues, UniProt reviewed canonical sequence.

>Q96KN9|GJD4
     1  MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE RFVCNTLQPG
    61  CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG ATLAALGPRR CPDPREPASG
   121  QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC
   181  TGVVDCYVSR PTEKSLLMLF LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS
   241  GASGHAEGRR TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS
   301  SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP DPPASSSGAP
   361  HLRARKSEWV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJD4 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): 0.52
Highest tissue expression: 0.9 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 0.9 nTPM
bone marrow: 0.6 nTPM
skin: 0.6 nTPM
retina: 0.5 nTPM
endometrium: 0.2 nTPM
gallbladder: 0.2 nTPM

Single-cell type

thymic myoid cells: 1.4 nCPM
mesothelial cells: 1 nCPM
respiratory deuterosomal cells: 1 nCPM
early spermatids: 0.7 nCPM
undifferentiated spermatogonia: 0.7 nCPM
neutrophil progenitors: 0.4 nCPM

Immune cell

neutrophil: 1.5 nTPM
basophil: 0.6 nTPM
eosinophil: 0.2 nTPM
naive B-cell: 0.2 nTPM
naive CD4 T-cell: 0.2 nTPM
naive CD8 T-cell: 0.2 nTPM

Brain region

cerebral cortex: 3.9 nTPM
white matter: 3.5 nTPM
cerebellum: 3.4 nTPM
choroid plexus: 3.2 nTPM
pons: 3.1 nTPM
basal ganglia: 3 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): 1.93
gnomAD pLI: 0.01
gnomAD missense Z: -1.01
DepMap mean gene effect: -0.05
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-cell signaling
regulation of satellite cell activation involved in skeletal muscle regeneration

Molecular functions

gap junction channel activity

Cellular components

connexin complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GJD4 as an antibody target. Whether an autoantibody or antibody against GJD4 could matter depends on whether native GJD4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GJD4 is annotated at the cell surface, where native GJD4 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 GJD4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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