• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CABP2 (HGNC:1385) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
calcium binding protein 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB93
Alias symbols
No aliases found
%HI
58.19(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.97(Read more about gnomAD LOEUF score)
Cytoband
11q13.2
Genomic Coordinates
GRCh37/hg19: chr11:67286383-67290917 NCBI Ensembl UCSC
GRCh38/hg38: chr11:67518912-67523446 NCBI Ensembl UCSC
MANE Select Transcript
NM_016366.3 ENST00000294288.5 (Read more about MANE Select)
Function
Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity). {ECO:0000250|UniProtKB:Q9JLK4, ECO:0000269|PubMed:28183797}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3866
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/20/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 93 Monarch
HI Evidence Comments:
Multiple variants have been reported in the CABP2 gene in probands with autosomal recessive nonsyndromic hearing loss (Sommen et al. 2016 PMID27068579, Schrauwen et al. 2012 PMID22981119, Bademci et al. 2016 PMID26226137). The overall evidence that CABP2, when altered, causes autosomal recessive nonsyndromic hearing loss has been Expert reviewed as Definitive by the ClinGen Hearing Loss Gene Curation Working Group. Based on the lack of evidence of dominant loss of function as a mechanism of disease, CABP2 receives a haploinsufficiency score of 30:Gene associated with autosomal recessive phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)