CABP2 Chromosome 11
Calcium binding protein 2
Upload your DNA to see your personal genotypes for variants in CABP2.
What This Gene Does
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]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000167791
Associated Conditions (5)
Autosomal recessive nonsyndromic hearing loss 93
Nonsyndromic genetic hearing loss
CABP2-related disorder
Hearing loss
autosomal recessive
Key Variants
RS138981491
Conflicting classifications of pathogenicity
Health Risk
RS145369252
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 93, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 93
Health Risk
RS376093439
Conflicting classifications of pathogenicity
CABP2-related disorder, CABP2-related disorder
Health Risk
RS749083371
Conflicting classifications of pathogenicity
Health Risk
RS757281872
Conflicting classifications of pathogenicity
Health Risk
RS1301870356
Likely pathogenic
Health Risk
RS1337650827
Likely pathogenic
Health Risk
RS1591077467
Likely pathogenic
Health Risk
RS368437370
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93
Health Risk
RS776117741
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93
Health Risk
RS950724245
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 93, CABP2-related disorder, Autosomal recessive nonsyndromic hearing loss 93
Health Risk
RS1391730624
Pathogenic
Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138981491 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145369252 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 93, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 93 |
| RS376093439 | Health Risk | Conflicting classifications of pathogenicity | CABP2-related disorder, CABP2-related disorder |
| RS749083371 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757281872 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1301870356 | Health Risk | Likely pathogenic | — |
| RS1337650827 | Health Risk | Likely pathogenic | — |
| RS1591077467 | Health Risk | Likely pathogenic | — |
| RS368437370 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93 |
| RS776117741 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93 |
| RS950724245 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 93, CABP2-related disorder, Autosomal recessive nonsyndromic hearing loss 93 |
| RS1391730624 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93 |
| RS149712664 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 93, Hearing loss, autosomal recessive |