CIB1 Chromosome 15
Calcium and integrin binding 1
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What This Gene Does
This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000185043
Associated Conditions (3)
Epidermodysplasia verruciformis
susceptibility to
3
Key Variants
RS559105655
Conflicting classifications of pathogenicity
Health Risk
RS914933274
Likely pathogenic
Epidermodysplasia verruciformis, susceptibility to, 3
Health Risk
RS1022917223
Pathogenic
Health Risk
RS1296353492
Pathogenic
Health Risk
RS143773090
Pathogenic
Epidermodysplasia verruciformis, susceptibility to, 3
Health Risk
RS1567069906
Pathogenic
Epidermodysplasia verruciformis, susceptibility to, 3
Health Risk
RS2505970769
Pathogenic
Health Risk
RS893423761
Pathogenic
Health Risk
RS1323557941
risk factor
Epidermodysplasia verruciformis, susceptibility to, 3
Health Risk
RS1351703532
risk factor
Epidermodysplasia verruciformis, susceptibility to, 3
Health Risk
RS1567068388
risk factor
Epidermodysplasia verruciformis, susceptibility to, 3
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS559105655 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS914933274 | Health Risk | Likely pathogenic | Epidermodysplasia verruciformis, susceptibility to, 3 |
| RS1022917223 | Health Risk | Pathogenic | — |
| RS1296353492 | Health Risk | Pathogenic | — |
| RS143773090 | Health Risk | Pathogenic | Epidermodysplasia verruciformis, susceptibility to, 3 |
| RS1567069906 | Health Risk | Pathogenic | Epidermodysplasia verruciformis, susceptibility to, 3 |
| RS2505970769 | Health Risk | Pathogenic | — |
| RS893423761 | Health Risk | Pathogenic | — |
| RS1323557941 | Health Risk | risk factor | Epidermodysplasia verruciformis, susceptibility to, 3 |
| RS1351703532 | Health Risk | risk factor | Epidermodysplasia verruciformis, susceptibility to, 3 |
| RS1567068388 | Health Risk | risk factor | Epidermodysplasia verruciformis, susceptibility to, 3 |