CIB2 Chromosome 15
Calcium and integrin binding family member 2
Upload your DNA to see your personal genotypes for variants in CIB2.
What This Gene Does
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]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
15q25.1
Ensembl
ENSG00000136425
Associated Conditions (13)
Melanoma
CIB2-related disorder
Usher syndrome type 1J
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 48
Childhood onset hearing loss
Usher syndrome
Hearing loss
autosomal recessive
Rare genetic deafness
Hearing impairment
Retinal dystrophy
Malignant tumor of esophagus
Key Variants
RS1281648597
Conflicting classifications of pathogenicity
Melanoma, Melanoma
Health Risk
RS144346527
Conflicting classifications of pathogenicity
CIB2-related disorder, CIB2-related disorder
Health Risk
RS145415848
Conflicting classifications of pathogenicity
Usher syndrome type 1J, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 48
Health Risk
RS200697103
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J, Autosomal recessive nonsyndromic hearing loss 48
Health Risk
RS370359511
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 48, Childhood onset hearing loss, Usher syndrome
Health Risk
RS374836619
Conflicting classifications of pathogenicity
Health Risk
RS758763586
Conflicting classifications of pathogenicity
Health Risk
RS1363188459
Likely pathogenic
Health Risk
RS397515411
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 48, Hearing loss, autosomal recessive
Health Risk
RS758251566
Likely pathogenic
CIB2-related disorder, CIB2-related disorder
Health Risk
RS1054728914
Pathogenic
Health Risk
RS1567047642
Pathogenic
Usher syndrome type 1J, Usher syndrome type 1J
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1281648597 | Health Risk | Conflicting classifications of pathogenicity | Melanoma, Melanoma |
| RS144346527 | Health Risk | Conflicting classifications of pathogenicity | CIB2-related disorder, CIB2-related disorder |
| RS145415848 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 1J, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 48 |
| RS200697103 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J, Autosomal recessive nonsyndromic hearing loss 48 |
| RS370359511 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 48, Childhood onset hearing loss, Usher syndrome |
| RS374836619 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758763586 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1363188459 | Health Risk | Likely pathogenic | — |
| RS397515411 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 48, Hearing loss, autosomal recessive |
| RS758251566 | Health Risk | Likely pathogenic | CIB2-related disorder, CIB2-related disorder |
| RS1054728914 | Health Risk | Pathogenic | — |
| RS1567047642 | Health Risk | Pathogenic | Usher syndrome type 1J, Usher syndrome type 1J |
| RS1567049981 | Health Risk | Pathogenic | — |
| RS201845656 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2074057980 | Health Risk | Pathogenic | — |
| RS2141925983 | Health Risk | Pathogenic | — |
| RS397515412 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 48, Autosomal recessive nonsyndromic hearing loss 48 |
| RS752523704 | Health Risk | Pathogenic | — |
| RS757748764 | Health Risk | Pathogenic | — |
| RS762127980 | Health Risk | Pathogenic | — |
| RS370965183 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 48, Hearing loss, autosomal recessive |
| RS765741202 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J |
| RS780168150 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J |