OBSCN Chromosome 1
Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
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What This Gene Does
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|Myosin light chain kinase family"
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000154358
Associated Conditions (8)
OBSCN-related disorder
Rhabdomyolysis
susceptibility to
1
Inborn genetic diseases
Short stature
Hearing loss
autosomal recessive 120
Key Variants
RS113760892
Conflicting classifications of pathogenicity
OBSCN-related disorder, OBSCN-related disorder
Health Risk
RS1284658608
Conflicting classifications of pathogenicity
Health Risk
RS139306713
Conflicting classifications of pathogenicity
Health Risk
RS1433965473
Conflicting classifications of pathogenicity
Health Risk
RS185531813
Conflicting classifications of pathogenicity
Health Risk
RS191837710
Conflicting classifications of pathogenicity
OBSCN-related disorder, OBSCN-related disorder
Health Risk
RS193302438
Conflicting classifications of pathogenicity
Rhabdomyolysis, susceptibility to, 1
Health Risk
RS199704824
Conflicting classifications of pathogenicity
Health Risk
RS199979779
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199985706
Conflicting classifications of pathogenicity
Health Risk
RS200058427
Conflicting classifications of pathogenicity
Health Risk
RS200870329
Conflicting classifications of pathogenicity
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1413609730 | Health Risk | Likely pathogenic | — |
| RS1480591236 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS200849058 | Health Risk | Likely pathogenic | Rhabdomyolysis, susceptibility to, 1 |
| RS2531495848 | Health Risk | Likely pathogenic | Rhabdomyolysis, susceptibility to, 1 |
| RS2545712483 | Health Risk | Likely pathogenic | OBSCN-related disorder, OBSCN-related disorder |
| RS2545765366 | Health Risk | Likely pathogenic | — |
| RS527810384 | Health Risk | Likely pathogenic | — |
| RS531159549 | Health Risk | Likely pathogenic | — |
| RS1029972302 | Health Risk | Pathogenic | — |
| RS1158912574 | Health Risk | Pathogenic | — |
| RS1206678898 | Health Risk | Pathogenic | OBSCN-related disorder, OBSCN-related disorder |
| RS1290761535 | Health Risk | Pathogenic | — |
| RS1338686840 | Health Risk | Pathogenic | — |
| RS1357560938 | Health Risk | Pathogenic | — |
| RS1417203331 | Health Risk | Pathogenic | — |
| RS1429044506 | Health Risk | Pathogenic | — |
| RS1474373656 | Health Risk | Pathogenic | — |
| RS2046932510 | Health Risk | Pathogenic | — |
| RS2528397772 | Health Risk | Pathogenic | — |
| RS2531180833 | Health Risk | Pathogenic | — |
| RS2531516441 | Health Risk | Pathogenic | — |
| RS2531745043 | Health Risk | Pathogenic | — |
| RS2544971701 | Health Risk | Pathogenic | — |
| RS2544986066 | Health Risk | Pathogenic | — |
| RS2545162609 | Health Risk | Pathogenic | — |
| RS375527061 | Health Risk | Pathogenic | — |
| RS531253434 | Health Risk | Pathogenic | Rhabdomyolysis, susceptibility to, 1 |
| RS749025131 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 120, Hearing loss |
| RS752364658 | Health Risk | Pathogenic | — |
| RS755201622 | Health Risk | Pathogenic | — |
| RS758667776 | Health Risk | Pathogenic | — |
| RS761256819 | Health Risk | Pathogenic | — |
| RS770491191 | Health Risk | Pathogenic | — |
| RS781071008 | Health Risk | Pathogenic | — |
| RS869312933 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS980884830 | Health Risk | Pathogenic | — |
| RS1322344930 | Health Risk | risk factor | Rhabdomyolysis, susceptibility to, 1 |
| RS2531580019 | Health Risk | risk factor | Rhabdomyolysis, susceptibility to, 1 |
| RS766814997 | Health Risk | risk factor | Rhabdomyolysis, susceptibility to, 1 |
| RS775772574 | Health Risk | risk factor | Rhabdomyolysis, susceptibility to, 1 |