PIH1D2: PIH1 Domain Containing 2
A gene encoding a protein involved in the assembly of small nucleolar ribonucleoprotein complexes and potentially linked to cancer through COSMIC mutations.
Gene Information Card
| Symbol | PIH1D2 |
|---|---|
| Full Name | PIH1 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 120863 ncbi.nlm.nih.gov/gene/120863 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | Q9H0W9 |
| OMIM ID | 617822 |
| HGNC ID | 28326 |
| Aliases | FLJ20643, MGC13170 |
Description
PIH1D2 (PIH1 domain containing 2) is a protein-coding gene located on chromosome 11q13.1. The encoded protein contains a PIH1 domain and is predicted to be involved in the assembly of small nucleolar ribonucleoprotein (snoRNP) complexes, similar to its paralog PIH1D1. PIH1D2 is expressed in multiple tissues and has been identified with somatic mutations in cancer samples according to COSMIC.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Somatic mutations in PIH1D2 have been cataloged in COSMIC, suggesting a potential role in tumorigenesis, though specific mechanisms are not yet defined. | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Thyroid | 6.5 | Medium |
| Adrenal gland | 5.1 | Low |
| Brain | 3.8 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.0 | Moderate expression |
| HeLa | 5.5 | Moderate expression |
| K562 | 4.2 | Low expression |
| A549 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.01% in COSMIC | Unknown |
| c.347C>T (p.Thr116Met) | Missense | <0.01% in COSMIC | Unknown |
Mutation functional classification
Loss of Function (LOF)
No functional studies available; loss-of-function not established.
Gain of Function (GOF)
No evidence for gain-of-function.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • nucleus (GO:0005634) |
| • snoRNA binding (GO:0030515) | • snoRNP assembly (GO:0000454) |
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• snoRNP assembly (Reactome: R-HSA-6790901)
Protein Summary
The PIH1D2 protein (UniProt Q9H0W9) is 247 amino acids long and contains a PIH1 domain. It is localized to the nucleolus and nucleus, and is predicted to participate in snoRNP assembly, a process essential for ribosomal RNA modification. Its exact molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIH1D2 Knockout HEK293 Cell Line | EDJ-KQ7664 | Human | 120379 | Details Get a Quote |
| PIH1D2 Knockout A-549 Cell Line | EDJ-KQ33023 | Human | 120379 | Details Get a Quote |
| PIH1D2 Knockout HeLa Cell Line | EDJ-KQ33024 | Human | 120379 | Details Get a Quote |
| PIH1D2 Knockout HCT 116 Cell Line | EDJ-KQ31694 | Human | 120379 | Details Get a Quote |
