| Type | Description |
|---|---|
| Definition | dynein cytoplasmic 2 heavy chain 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-30 13:13:00 | we identified the nuclear transportation of DNA repair proteins by DHC2 as a critical regulator of acquired temozolomide resistance in MGMT-deficient glioblastoma | 31347685 |
| 2020-02-01 11:18:00 | Molecular analyses using whole exome sequencing in one family revealed that the patient is compound heterozygote in DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in premature stop-codon p.Phe1486Leufs*11 and a missense mutation c.9044A>G (p.Asp3015Gly) | 31935347 |
| 2020-01-11 12:14:00 | Pathogenic germline and somatic variants of DYNC2H1 associated with hypothalamic hamartoma were found. | 31197031 |
| 2018-09-01 10:03:00 | This is the first report of prenatal diagnosis of DYNC2H1 mutations causing Short-rib polydactyly syndrome (SRPS) Type III in a fetus with increased BPD associated with polyhydramnios in China. | 29359448 |
| 2018-04-21 10:42:00 | In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. | 27925158 |
| Type | IDs |
|---|---|
| Synonymous | ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11 |
| Gene |
UniProtKB-ID:
DYHC2_HUMAN
UniprotKB:
Q8NCM8
UniParc:
UPI0000418CA2,
UPI00006C1190,
UPI0000481AC7
EMBL:
AK095579,
AB231765,
Z83800,
AK021818,
AP001486,
AK131453,
AB231766,
AP000817,
AP003382,
AK125524,
AP002961,
AB082528,
U53531,
BX538093,
AP002829,
AP003461,
U20552
Ensembl:
ENSG00000187240
KO:
hsa:79659
|
| Nucleutide sequences |
EMBL-CDS:
AAB09728.1,
BAE17138.1,
BAD18598.1,
AAB50020.1,
CAB06054.1,
BAE46899.1,
CAD98012.1,
BAC04578.1,
BAC02706.2,
BAC86194.1,
BAB13905.1
Ensembl_TRS:
ENST00000650373,
ENST00000334267,
ENST00000375735
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497174,
ENSP00000334021,
ENSP00000364887
RefSeq:
XP_016873780.1,
XP_016873782.1,
NP_001073932.1,
NP_001368.2,
XP_016873781.1,
XP_006718966.1
|
| Others |
UniRef100:
UniRef100_Q8NCM8
UniRef90:
UniRef90_Q8NCM8
UniRef50:
UniRef50_Q8NCM8
UniGene:
Hs.503721
CCDS:
CCDS53701.1,
CCDS44717.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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