DYNC2I2 Chromosome 9
Dynein 2 intermediate chain 2
Upload your DNA to see your personal genotypes for variants in DYNC2I2.
What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"WD repeat domain containing|Cilia and flagella associated|Dynein 2 complex subunits"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000119333
Associated Conditions (8)
Short-rib thoracic dysplasia 11 with or without polydactyly
DYNC2I2-related disorder
Inborn genetic diseases
Jeune thoracic dystrophy
Retinal dystrophy
Asphyxiating thoracic dystrophy 3
Melanoma
Hepatocellular carcinoma
Key Variants
RS142859913
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS146077746
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS186236478
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, DYNC2I2-related disorder, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS202215428
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS2132190369
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS587777096
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS763670176
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 11 with or without polydactyly, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS1860309810
Likely pathogenic
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS587777092
Likely pathogenic
Short-rib thoracic dysplasia 11 with or without polydactyly, DYNC2I2-related disorder, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS755570414
Likely pathogenic
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS780283055
Likely pathogenic
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
RS1376492472
Pathogenic
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142859913 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS146077746 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS186236478 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, DYNC2I2-related disorder, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS202215428 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2132190369 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777096 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS763670176 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 11 with or without polydactyly, Inborn genetic diseases, Retinal dystrophy |
| RS1860309810 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777092 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, DYNC2I2-related disorder, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS755570414 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS780283055 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1376492472 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1860313722 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1860335967 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1860338648 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1860428100 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1860503169 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2132155831 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2542422187 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2542422836 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2542431260 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2542433072 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS2542474503 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS371188707 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS431905519 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777091 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777094 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777095 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777097 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777098 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS754862975 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS760226714 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS763975565 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS770506724 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS1554770453 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1554770620 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS1554771066 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS1554771175 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2132146546 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS371069043 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Melanoma, Hepatocellular carcinoma |
| RS555811074 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Short-rib thoracic dysplasia 11 with or without polydactyly, Jeune thoracic dystrophy |
| RS587777093 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS753802842 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS759150616 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |