Seroatlas · Human Serome Atlas

CABP4

Calcium-binding protein 4

Also known as: CABP4_HUMAN, CSNB2B

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

Protein identityUniProt · HPA

UniProt accession: P57796
Gene: CABP4
Ensembl: ENSG00000175544
Chromosome: 11
Canonical length: 275 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

275 residues, UniProt reviewed canonical sequence.

>P57796|CABP4
     1  MTTEQARGQQ GPNLAIGRQK PPAGVVTPKS DAEEPPLTRK RSKKERGLRG SRKRTGSSGE
    61  QTGPEAPGSS NNPPSTGEGP AGAPPASPGP ASSRQSHRHR PDSLHDAAQR TYGPLLNRVF
   121  GKDRELGPEE LDELQAAFEE FDTDRDGYIS HRELGDCMRT LGYMPTEMEL LEVSQHIKMR
   181  MGGRVDFEEF VELIGPKLRE ETAHMLGVRE LRIAFREFDR DRDGRITVAE LREAVPALLG
   241  EPLAGPELDE MLREVDLNGD GTVDFDEFVM MLSRH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CABP4 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 63 nTPM

Expression across tissuesHPA

Tissue

retina: 63 nTPM
spleen: 6.4 nTPM
epididymis: 1.6 nTPM
lung: 1.4 nTPM
placenta: 1.3 nTPM
stomach: 1.3 nTPM

Single-cell type

rod photoreceptor cells: 213 nCPM
cone photoreceptor cells: 147 nCPM
kupffer cells: 43 nCPM
retinal horizontal cells: 10 nCPM
retinal bipolar cells: 9.5 nCPM
hofbauer cells: 9.2 nCPM

Immune cell

non-classical monocyte: 12 nTPM
basophil: 1.9 nTPM
neutrophil: 1.7 nTPM
intermediate monocyte: 1.1 nTPM
NK-cell: 1 nTPM
classical monocyte: 0.8 nTPM

Brain region

white matter: 7.3 nTPM
cerebellum: 6.8 nTPM
cerebral cortex: 6.7 nTPM
medulla oblongata: 5.9 nTPM
pons: 5.9 nTPM
thalamus: 5.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CABP4.

Disease | AllUniProt

Conditions CABP4 is implicated in, by any mechanism.

Cone-rod synaptic disorder, congenital non-progressive (CRSD) MIM:610427

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 396 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cone-rod synaptic disorder, congenital nonprogressive
Retinal dystrophy
Cone-rod dystrophy
Achromatopsia
Disorder of eye

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): 1.54
gnomAD pLI: 0
gnomAD missense Z: -0.52
DepMap mean gene effect: -0.19
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CABP4 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 CABP4 as an antibody target. Whether an autoantibody or antibody against CABP4 could matter depends on whether native CABP4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CABP4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CABP4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...