PWWP2A Gene - PWWP Domain Containing 2A
Comprehensive genomic and functional analysis of PWWP2A, a chromatin-associated protein involved in transcriptional regulation and DNA repair.
Gene Information Card
| Symbol | PWWP2A |
|---|---|
| Full Name | PWWP domain containing 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 114825 ncbi.nlm.nih.gov/gene/114825 |
| Ensembl ID | ENSG00000164190 |
| UniProt ID | Q96N64 |
| OMIM ID | 617205 |
| HGNC ID | 25037 |
| Aliases | MUM1, MSTP030, PWWP2 |
Description
PWWP2A encodes a protein containing a PWWP domain, which is involved in chromatin binding and transcriptional regulation. The protein is implicated in DNA damage repair and may play a role in cell cycle control. PWWP2A is ubiquitously expressed and has been associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may disrupt chromatin remodeling and DNA repair pathways, promoting genomic instability. | COSMIC; literature |
| Developmental disorders | Mutations in PWWP2A may affect transcriptional regulation during embryogenesis. | OMIM #617205 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 6.5 | 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% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • chromatin remodeling (GO:0006338) |
Pathways
• Chromatin organization
• DNA repair
Protein Summary
PWWP2A is a 658-amino acid protein with a PWWP domain that mediates binding to methylated histones and DNA. It localizes to the nucleus and is involved in chromatin remodeling, transcriptional regulation, and DNA damage response. The protein interacts with other chromatin-associated factors to modulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PWWP2A Knockout HEK293 Cell Line | EDJ-KQ7475 | Human | 114825 | Details Get a Quote |
| PWWP2A Knockout A-549 Cell Line | EDJ-KQ32698 | Human | 114825 | Details Get a Quote |
| PWWP2A Knockout HCT 116 Cell Line | EDJ-KQ32699 | Human | 114825 | Details Get a Quote |
| PWWP2A Knockout HeLa Cell Line | EDJ-KQ32700 | Human | 114825 | Details Get a Quote |
