CABP2 |
- 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)