DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)

2007-02-01  

Identity

HGNC
DYNC2H1
LOCATION
11q22.3
LOCUSID
79659
ALIAS
ATD3,DHC1b,DHC2,DNCH2,DYH1B,SRPS2B,SRTD3,hdhc11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79659
MIM: 603297
HGNC: 2962
Ensembl: ENSG00000187240

Variants:

dbSNP: 79659
ClinVar: 79659
TCGA: ENSG00000187240
COSMIC: DYNC2H1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187240ENST00000334267Q8NCM8
ENSG00000187240ENST00000375735Q8NCM8
ENSG00000187240ENST00000528670H0YDE0
ENSG00000187240ENST00000533197H0YEX1
ENSG00000187240ENST00000648198A0A3B3ISP9
ENSG00000187240ENST00000649323A0A3B3IT36
ENSG00000187240ENST00000650373Q8NCM8

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD21118971
PA449552etoposideChemicalClinicalAnnotationassociatedPD21118971

References

Pubmed IDYearTitleCitations
365999402023Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.1
365999402023Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.1
336941582021Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.1
337551992021DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.2
338468082021Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.2
336941582021Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.1
337551992021DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.2
338468082021Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.2
327537342020DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.26
327537342020DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.26
311970312019Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.11
313476852019Acquired temozolomide resistance in MGMT-deficient glioblastoma cells is associated with regulation of DNA repair by DHC2.64
319353472019Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.0
311970312019Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.11
313476852019Acquired 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-(dynein-cytoplasmic-2-heavy-chain-1)