DYNC2I1 Chromosome 7
Dynein 2 intermediate chain 1
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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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [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
7q36.3
Ensembl
ENSG00000126870
Associated Conditions (14)
Short-rib thoracic dysplasia 8 with or without polydactyly
Inborn genetic diseases
DYNC2I1-related disorder
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
See cases
Malignant tumor of esophagus
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Cervical cancer
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Gastric cancer
Key Variants
RS116193143
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
RS138296655
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
RS140137568
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
RS140596100
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
RS149660873
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, DYNC2I1-related disorder
Health Risk
RS193204571
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
RS200061970
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder, Inborn genetic diseases
Health Risk
RS202111347
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Malignant tumor of esophagus, Clear cell carcinoma of kidney
Health Risk
RS374765133
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
RS58538724
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder, Inborn genetic diseases
Health Risk
RS73167274
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder, Inborn genetic diseases
Health Risk
RS767670522
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116193143 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS138296655 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS140137568 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS140596100 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS149660873 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, DYNC2I1-related disorder |
| RS193204571 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS200061970 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder, Inborn genetic diseases |
| RS202111347 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Malignant tumor of esophagus, Clear cell carcinoma of kidney |
| RS374765133 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS58538724 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder, Inborn genetic diseases |
| RS73167274 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder, Inborn genetic diseases |
| RS767670522 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS770249657 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS776300442 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Short-rib thoracic dysplasia 8 with or without polydactyly, Jeune thoracic dystrophy |
| RS1554460624 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS1843823774 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS2535858456 | Health Risk | Likely pathogenic | DYNC2I1-related disorder, DYNC2I1-related disorder |
| RS367599281 | Health Risk | Likely pathogenic | — |
| RS780061154 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS899172501 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS1203407896 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS1412188940 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS1456300819 | Health Risk | Pathogenic | Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia 8 with or without polydactyly, Asphyxiating thoracic dystrophy 3 |
| RS1844679510 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS2535858137 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS2536414666 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS587777064 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS587777065 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS587777066 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS750540944 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS752109819 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS752596216 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS767577574 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS1554478948 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS766663693 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |