DRC1 (dynein regulatory complex subunit 1)

2014-11-01  

Identity

HGNC
DRC1
LOCATION
2p23.3
LOCUSID
92749
ALIAS
C2orf39,CCDC164,CILD21

Other Information

Locus ID:

NCBI: 92749
MIM: 615288
HGNC: 24245
Ensembl: ENSG00000157856

Variants:

dbSNP: 92749
ClinVar: 92749
TCGA: ENSG00000157856
COSMIC: DRC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157856ENST00000288710Q96MC2
ENSG00000157856ENST00000421869F8WE02
ENSG00000157856ENST00000649059A0A3B3IT12

Expression (GTEx)

0
10
20
30
40
50
60
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

References

Pubmed IDYearTitleCitations
367471062023Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.2
368642852023Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.3
367471062023Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.2
368642852023Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.3
341693212021Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.15
341693212021Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.15
319606202020Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.17
319606202020Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.17
312709592019Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.15
312709592019Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.15
233544372013The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.106
233544372013The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.106

Citation

Dessen P

DRC1 (dynein regulatory complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62638