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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H6S0 |
| Protein name |
3'-5' RNA helicase YTHDC2 (EC 3.6.4.13) (YTH domain-containing protein 2) (hYTHDC2) |
| Protein function |
3'-5' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells (PubMed:26318451, PubMed:29033321, PubMed:29970596). Specifically recognizes and binds N6-methyladen |
| PDB |
2YU6
, 6K6U
, 6LR2
, 9H35
, 9H36
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01424 |
R3H |
45 → 104 |
R3H domain |
Domain |
| PF00270 |
DEAD |
196 → 355 |
DEAD/DEAH box helicase |
Domain |
| PF00271 |
Helicase_C |
607 → 744 |
Helicase conserved C-terminal domain |
Family |
| PF04408 |
HA2 |
809 → 928 |
Helicase associated domain (HA2) |
Domain |
| PF07717 |
OB_NTP_bind |
971 → 1067 |
Oligonucleotide/oligosaccharide-binding (OB)-fold |
Domain |
| PF04146 |
YTH |
1288 → 1362 |
YT521-B-like domain |
Domain |
| PF04146 |
YTH |
1351 → 1419 |
YT521-B-like domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Expressed in testis (PubMed:29087293). Not detected in spermatogonia next to the tubule wall but is strongly expressed in spermatocytes, suggesting that it is up-regulated in germ cells upon entry into meiosis (PubMed:29087293). {ECO:0 |
| Sequence |
|
| Sequence length |
1430 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cholangiocarcinoma |
Benign |
rs1035409 |
RCV005936998 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs72805421 |
RCV005937265 |
| Colorectal cancer |
Benign |
rs72805422, rs72805421 |
RCV005937142 RCV005937261 |
| Familial cancer of breast |
Benign |
rs10077431 |
RCV005937345 |
| Familial pancreatic carcinoma |
Benign |
rs72805421 |
RCV005937259 |
| Gastric cancer |
Benign; Likely benign |
rs72805421, rs374503453 |
RCV005937262 RCV005871453 |
| Hepatocellular carcinoma |
Benign |
rs10077431, rs72805421 |
RCV005937346 RCV005937257 |
| Lymphoma |
Benign |
rs72805421 |
RCV005937263 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs72805422, rs10077431, rs72805421 |
RCV005937141 RCV005937347 RCV005937260 |
| Ovarian cancer |
Benign |
rs72805421 |
RCV005937258 |
| Prostate cancer |
Uncertain significance |
rs193921121 |
RCV000149300 |
| Thymoma |
Benign |
rs1035409 |
RCV005936997 |
| Uterine carcinosarcoma |
Benign |
rs72805422, rs1035409, rs72805421 |
RCV005937143 RCV005936996 RCV005937264 |
| Uveal melanoma |
Benign |
rs1035409 |
RCV005936995 |
| YTHDC2-related disorder |
Likely benign; Benign; Uncertain significance |
rs138392928, rs145439600, rs183270517, rs139910362, rs1289395774, rs6594732, rs72805422, rs2303718, rs10071816, rs6867579, rs10077431, rs1035409, rs72805421, rs11748794, rs75714066, rs60871281, rs775089773, rs141717870, rs559731606, rs200293288, rs76261225, rs149368895, rs1491314813, rs148010171, rs34053583, rs776080679, rs1447561283, rs141634861, rs147258494, rs376412303, rs139636169, rs6886628, rs1132528, rs145755313, rs76945231, rs374503453, rs57601831, rs116615892, rs77180725, rs77052070, rs112988767, rs113734823, rs115977003, rs142475090 View all (29 more) |
RCV003907096 RCV003929622 RCV003929796 RCV003931888 RCV003964589 RCV003974345 RCV003974420 RCV003974102 RCV003979798 RCV003982424 RCV003982464 RCV003916947 RCV003982295 RCV003977396 RCV003984533 RCV003984540 RCV003941803 RCV003942086 RCV003944164 RCV003952220 RCV003944594 RCV003964052 RCV003919543 RCV003924334 RCV003937021 RCV003921979 RCV003922228 RCV003932152 RCV003934113 RCV003942135 RCV003942328 RCV003937388 RCV003964359 RCV003982048 RCV003982217 RCV003957312 RCV003978914 RCV003978936 RCV003972137 RCV003915911 RCV003915912 RCV003975508 RCV003955843 RCV003912976 RCV003915913 RCV003981458 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
34312987 |
| Adenocarcinoma of Lung |
Associate |
32258108 |
| Adenocarcinoma of Lung |
Inhibit |
32956555, 34497675 |
| Adrenocortical Carcinoma |
Associate |
34312987 |
| Aortic Dissection |
Associate |
36819785 |
| Arthritis Rheumatoid |
Associate |
36582238, 38432455 |
| Carcinogenesis |
Associate |
32956555 |
| Carcinoma Endometrioid |
Associate |
33692441 |
| Carcinoma Hepatocellular |
Stimulate |
32631107, 34221187 |
| Carcinoma Hepatocellular |
Associate |
34234878 |
| Carcinoma Non Small Cell Lung |
Inhibit |
32956555 |
| Carcinoma Non Small Cell Lung |
Associate |
34367534, 34812534 |
| Carcinoma Renal Cell |
Associate |
38164857 |
| Carcinoma Squamous Cell |
Associate |
32956555, 34312987 |
| Chemical and Drug Induced Liver Injury |
Associate |
36072379 |
| Colonic Neoplasms |
Associate |
31823961, 32596399 |
| Colorectal Neoplasms |
Associate |
33415160, 37194014 |
| Diabetes Mellitus Type 1 |
Associate |
35784577 |
| Diabetic Nephropathies |
Associate |
36585417 |
| Endometrial Neoplasms |
Associate |
34312987 |
| Fever |
Associate |
36072379 |
| Glaucoma Open Angle |
Associate |
40128732 |
| Glioma |
Associate |
34312987 |
| Lymphatic Metastasis |
Inhibit |
32956555 |
| Melanoma Cutaneous Malignant |
Associate |
34312987 |
| Myocardial Infarction |
Associate |
36061306 |
| Neoplasms |
Associate |
31823961, 32398949, 32596399, 32956555, 34312987, 36416324 |
| Osteoporosis |
Associate |
36967763 |
| Parkinson Disease |
Associate |
39533574 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
36567510 |
| Primary Ovarian Insufficiency |
Associate |
35138268 |
| Pulmonary Disease Chronic Obstructive |
Associate |
32961012 |
| Rectal Neoplasms |
Associate |
34312987 |
| Sarcoma |
Associate |
33370249 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
34207099, 36416324 |
| Tuberculosis Pulmonary |
Associate |
36072379 |
| Uterine Cervical Neoplasms |
Associate |
37474926 |
|