OBSL1 Chromosome 2
Obscurin like cytoskeletal adaptor 1
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What This Gene Does
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"I-set domain containing|MicroRNA protein coding host genes|3M complex subunits"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000124006
Associated Conditions (6)
Inborn genetic diseases
3M syndrome 2
OBSL1-related disorder
Monogenic short stature
Short stature
3M syndrome 1
Key Variants
RS112487236
Conflicting classifications of pathogenicity
Inborn genetic diseases, 3M syndrome 2, Inborn genetic diseases
Health Risk
RS116131367
Conflicting classifications of pathogenicity
3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
Health Risk
RS1193236223
Conflicting classifications of pathogenicity
Health Risk
RS140112967
Conflicting classifications of pathogenicity
3M syndrome 2, 3M syndrome 2
Health Risk
RS140825693
Conflicting classifications of pathogenicity
Health Risk
RS1434485676
Conflicting classifications of pathogenicity
Health Risk
RS143493175
Conflicting classifications of pathogenicity
OBSL1-related disorder, OBSL1-related disorder
Health Risk
RS144083909
Conflicting classifications of pathogenicity
Health Risk
RS1449351602
Conflicting classifications of pathogenicity
Health Risk
RS145850612
Conflicting classifications of pathogenicity
3M syndrome 2, 3M syndrome 2
Health Risk
RS146306059
Conflicting classifications of pathogenicity
Health Risk
RS148433261
Conflicting classifications of pathogenicity
3M syndrome 2, 3M syndrome 2
Health Risk
All Variants (134)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2546180341 | Health Risk | Likely pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS2546247239 | Health Risk | Likely pathogenic | OBSL1-related disorder, OBSL1-related disorder |
| RS2546295090 | Health Risk | Likely pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS749399846 | Health Risk | Likely pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS760929207 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS780389591 | Health Risk | Likely pathogenic | — |
| RS973469781 | Health Risk | Likely pathogenic | — |
| RS1057518716 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS121918215 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS121918216 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS1321473082 | Health Risk | Pathogenic | — |
| RS1335171880 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS1423583605 | Health Risk | Pathogenic | — |
| RS1553537027 | Health Risk | Pathogenic | — |
| RS1559160379 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS1696816233 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS1697317440 | Health Risk | Pathogenic | — |
| RS2106102918 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS2106114422 | Health Risk | Pathogenic | — |
| RS2106118762 | Health Risk | Pathogenic | — |
| RS2469065148 | Health Risk | Pathogenic | — |
| RS2469065805 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS372464544 | Health Risk | Pathogenic | — |
| RS530300374 | Health Risk | Pathogenic | — |
| RS757869728 | Health Risk | Pathogenic | — |
| RS762334954 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS767237510 | Health Risk | Pathogenic | 3M syndrome 2, OBSL1-related disorder, 3M syndrome 2 |
| RS773698181 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS775865076 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS776873731 | Health Risk | Pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS886041519 | Health Risk | Pathogenic | — |
| RS1292663596 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 2, 3M syndrome 2 |
| RS1559155954 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 1, 3M syndrome 2, 3M syndrome 1 |
| RS752401295 | Health Risk | Pathogenic/Likely pathogenic | 3M syndrome 2, 3M syndrome 2 |