Seroatlas · Human Serome Atlas

CIB2

Calcium and integrin-binding family member 2

Also known as: CIB2_HUMAN, DFNB48, KIP2, USH1J

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

Protein identityUniProt · HPA

UniProt accession: O75838
Gene: CIB2
Ensembl: ENSG00000136425
Chromosome: 15
Canonical length: 187 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nucleoplasm,Primary cilium transition zone,Centrosome,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

187 residues, UniProt reviewed canonical sequence.

>O75838|CIB2
     1  MGNKQTIFTE EQLDNYQDCT FFNKKDILKL HSRFYELAPN LVPMDYRKSP IVHVPMSLII
    61  QMPELRENPF KERIVAAFSE DGEGNLTFND FVDMFSVLCE SAPRELKANY AFKIYDFNTD
   121  NFICKEDLEL TLARLTKSEL DEEEVVLVCD KVIEEADLDG DGKLGFADFE DMIAKAPDFL
   181  STFHIRI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CIB2 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): 0.3
Highest tissue expression: 47 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 47 nTPM
thymus: 45 nTPM
small intestine: 23 nTPM
duodenum: 18 nTPM
testis: 18 nTPM
cerebral cortex: 17 nTPM

Single-cell type

late spermatids: 501 nCPM
early spermatids: 96 nCPM
pdcs: 82 nCPM
breast myoepithelial cells: 34 nCPM
enterocytes: 33 nCPM
goblet cells: 32 nCPM

Immune cell

plasmacytoid DC: 19 nTPM
gdT-cell: 0.3 nTPM
MAIT T-cell: 0.2 nTPM
naive CD8 T-cell: 0.2 nTPM
total PBMC: 0.2 nTPM
intermediate monocyte: 0.1 nTPM

Brain region

pons: 21 nTPM
medulla oblongata: 21 nTPM
midbrain: 17 nTPM
hippocampal formation: 16 nTPM
spinal cord: 15 nTPM
hypothalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CIB2.

Disease | AllUniProt

Conditions CIB2 is implicated in, by any mechanism.

Deafness, autosomal recessive, 48 (DFNB48) MIM:609439
Usher syndrome 1J (USH1J) MIM:614869

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 248 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 48
Hearing loss, autosomal recessive
Usher syndrome type 1
Rare genetic deafness
Usher syndrome

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): 1.09
gnomAD pLI: 0
gnomAD missense Z: 0.52
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 CIB2 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 CIB2 as an antibody target. Whether an autoantibody or antibody against CIB2 could matter depends on whether native CIB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CIB2 is annotated at the cell surface, where native CIB2 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 CIB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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