R3HDM2 Gene
R3H Domain Containing 2
Gene Information Card
| Symbol | R3HDM2 |
|---|---|
| Full Name | R3H Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 22864 ncbi.nlm.nih.gov/gene/22864 |
| Ensembl ID | ENSG00000135447 |
| UniProt ID | Q9Y2K5 |
| OMIM ID | 610382 |
| HGNC ID | 23586 |
| Aliases | KIAA1002, R3HDM2A |
Description
R3HDM2 (R3H Domain Containing 2) is a protein-coding gene located on chromosome 12q13.3. The encoded protein contains an R3H domain, which is a conserved motif involved in nucleic acid binding. R3HDM2 is implicated in RNA processing and cellular signaling. Expression is observed in multiple tissues, with highest levels in testis and brain. Mutations and altered expression have been associated with neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Disruption of R3HDM2 function may impair RNA processing in neurons | Limited; rare variant studies in ClinVar |
| Cancer (e.g., breast, lung) | Altered expression or somatic mutations may affect cell proliferation | COSMIC; TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.2 | Moderate expression |
| HeLa | 4.8 | Moderate expression |
| K562 | 2.1 | Low expression |
| HepG2 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• RNA processing
• mRNA surveillance
Protein Summary
The R3HDM2 protein (UniProt Q9Y2K5) contains an R3H domain, a conserved motif that binds single-stranded nucleic acids. It is localized to the nucleus and cytoplasm, and is involved in RNA binding and processing. The protein is 1,234 amino acids long and has a molecular weight of approximately 138 kDa. Expression is highest in testis and brain, suggesting roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| R3HDM2 Knockout HEK293 Cell Line | EDJ-KQ7715 | Human | 22864 | Details Get a Quote |
| R3HDM2 Knockout A-549 Cell Line | EDJ-KQ33118 | Human | 22864 | Details Get a Quote |
| R3HDM2 Knockout HCT 116 Cell Line | EDJ-KQ33119 | Human | 22864 | Details Get a Quote |
| R3HDM2 Knockout HeLa Cell Line | EDJ-KQ33120 | Human | 22864 | Details Get a Quote |
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