YTHDC2
YTH Domain Containing 2, an RNA Helicase and N6-Methyladenosine Reader
Gene Information Card
| Symbol | YTHDC2 |
|---|---|
| Full Name | YTH Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q22.2 |
| NCBI Gene ID | 64848 ncbi.nlm.nih.gov/gene/64848 |
| Ensembl ID | ENSG00000147162 |
| UniProt ID | Q9H6S0 |
| OMIM ID | 616530 |
| HGNC ID | 24721 |
| Aliases | DC2, hYTHDC2, FLJ20032 |
Description
YTHDC2 encodes a protein that contains a YTH domain, which specifically recognizes N6-methyladenosine (m6A) modifications on RNA. The protein also possesses RNA helicase activity and is involved in RNA metabolism, including translation and decay. YTHDC2 plays critical roles in spermatogenesis and is implicated in various cancers, where it may act as a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss of YTHDC2 disrupts meiotic progression and germ cell development, leading to azoospermia or oligospermia. | OMIM #616530; mouse models show infertility. |
| Hepatocellular carcinoma | YTHDC2 overexpression correlates with poor prognosis; promotes proliferation and metastasis via m6A-dependent regulation of oncogenic transcripts. | COSMIC; multiple studies in liver cancer cell lines. |
| Colorectal cancer | YTHDC2 downregulation is associated with tumor progression; loss of function may impair tumor suppression. | ClinVar; literature reports of reduced expression in tumors. |
| Acute myeloid leukemia | YTHDC2 mutations or altered expression affect m6A-mediated regulation of leukemogenic genes. | COSMIC; limited evidence from sequencing studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Liver | 8.7 | Medium |
| Colon | 6.2 | Medium |
| Bone marrow | 4.1 | Low |
| Brain | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 12.1 | High expression |
| HCT116 (colorectal cancer) | 7.8 | Medium expression |
| K562 (leukemia) | 5.3 | Low expression |
| HEK293 (embryonic kidney) | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% in general population | Loss of function; truncation of helicase domain. |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% in cancer samples | Reduced RNA binding affinity; potential gain-of-function in some contexts. |
| c.2101_2102insA (p.Thr701Asnfs*3) | Frameshift | Rare in COSMIC | Loss of function; predicted to cause nonsense-mediated decay. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the helicase domain, leading to impaired RNA metabolism and spermatogenesis defects.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu189Lys) that may enhance m6A binding or alter substrate specificity, potentially promoting oncogenic pathways.
Dominant Negative (DN)
Not well characterized; some truncating mutations may interfere with wild-type function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• m6A RNA modification pathway
• RNA degradation via nonsense-mediated decay
• Spermatogenesis
Protein Summary
YTHDC2 is a 1430-amino acid protein that contains an N-terminal DExD/H-box helicase domain and a C-terminal YTH domain. It functions as an m6A reader, binding methylated RNA to regulate translation and decay. The helicase activity unwinds RNA secondary structures, facilitating ribosome scanning or degradation. YTHDC2 is essential for male germ cell development and is implicated in cancer through modulation of oncogene and tumor suppressor expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YTHDC2 Knockout HEK293 Cell Line | EDJ-KQ16172 | Human | 64848 | Details Get a Quote |
| YTHDC2 Knockout A-549 Cell Line | EDJ-KQ47384 | Human | 64848 | Details Get a Quote |
| YTHDC2 Knockout HCT 116 Cell Line | EDJ-KQ47385 | Human | 64848 | Details Get a Quote |
| YTHDC2 Knockout HeLa Cell Line | EDJ-KQ47386 | Human | 64848 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
