Identity
HGNC
LOCATION
11q22.3
LOCUSID
ALIAS
ATD3,DHC1b,DHC2,DNCH2,DYH1B,SRPS2B,SRTD3,hdhc11
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79659
MIM: 603297
HGNC: 2962
Ensembl: ENSG00000187240
Variants:
dbSNP: 79659
ClinVar: 79659
TCGA: ENSG00000187240
COSMIC: DYNC2H1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164713176 | Platinum compounds | Chemical | ClinicalAnnotation | associated | PD | 21118971 | |
| PA449552 | etoposide | Chemical | ClinicalAnnotation | associated | PD | 21118971 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36599940 | 2023 | Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. | 1 |
| 36599940 | 2023 | Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. | 1 |
| 33694158 | 2021 | Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy. | 1 |
| 33755199 | 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features. | 2 |
| 33846808 | 2021 | Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants. | 2 |
| 33694158 | 2021 | Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy. | 1 |
| 33755199 | 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features. | 2 |
| 33846808 | 2021 | Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants. | 2 |
| 32753734 | 2020 | DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. | 26 |
| 32753734 | 2020 | DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. | 26 |
| 31197031 | 2019 | Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. | 11 |
| 31347685 | 2019 | Acquired temozolomide resistance in MGMT-deficient glioblastoma cells is associated with regulation of DNA repair by DHC2. | 64 |
| 31935347 | 2019 | Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene. | 0 |
| 31197031 | 2019 | Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. | 11 |
| 31347685 | 2019 | Acquired temozolomide resistance in MGMT-deficient glioblastoma cells is associated with regulation of DNA repair by DHC2. | 64 |
Citation
Dessen P
DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46142/dync2h1
