Seroatlas · Human Serome Atlas

CABP2

Calcium-binding protein 2

Also known as: CABP2_HUMAN, DFNB93

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

Protein identityUniProt · HPA

UniProt accession
Q9NPB3
Gene
CABP2
Ensembl
ENSG00000167791
Chromosome
11
Canonical length
220 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

220 residues, UniProt reviewed canonical sequence.

>Q9NPB3|CABP2
     1  MGNCAKRPWR RGPKDPLQWL GSPPRGSCPS PSSSPKEQGD PAPGVQGYSV LNSLVGPACI
    61  FLRPSIAATQ LDRELRPEEI EELQVAFQEF DRDRDGYIGC RELGACMRTL GYMPTEMELI
   121  EISQQISGGK VDFEDFVELM GPKLLAETAD MIGVRELRDA FREFDTNGDG RISVGELRAA
   181  LKALLGERLS QREVDEILQD VDLNGDGLVD FEEFVRMMSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CABP2 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
0
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
6.8 nTPM

Expression across tissuesHPA

Tissue

  • retina: 6.8 nTPM
  • thymus: 0.7 nTPM
  • choroid plexus: 0.2 nTPM
  • adipose tissue: 0 nTPM
  • adrenal gland: 0 nTPM
  • amygdala: 0 nTPM

Single-cell type

  • retinal bipolar cells: 73 nCPM
  • retinal horizontal cells: 2 nCPM
  • retinal amacrine cells: 1.4 nCPM
  • rod photoreceptor cells: 1 nCPM
  • müller glia: 0.9 nCPM
  • colonocytes: 0.3 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

  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM
  • choroid plexus: 0 nTPM
  • hippocampal formation: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CABP2.

Disease | AllUniProt

Conditions CABP2 is implicated in, by any mechanism.

  • Deafness, autosomal recessive, 93 (DFNB93) MIM:614899

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 143 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.97
gnomAD pLI
0
gnomAD missense Z
0.03
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% 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 CABP2 as an antibody target. Whether an autoantibody or antibody against CABP2 could matter depends on whether native CABP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CABP2 is annotated at the cell surface, where native CABP2 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 CABP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CABP2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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