PUM2 Gene - Pumilio RNA Binding Family Member 2
Comprehensive genomic and functional analysis of PUM2, a key post-transcriptional regulator in RNA metabolism and disease.
Gene Information Card
| Symbol | PUM2 |
|---|---|
| Full Name | pumilio RNA binding family member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.3 |
| NCBI Gene ID | 23369 ncbi.nlm.nih.gov/gene/23369 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q8TB72 |
| OMIM ID | 607205 |
| HGNC ID | 14934 |
| Aliases | PUM2_HUMAN, PUMH2, PUML2 |
Description
PUM2 (pumilio RNA binding family member 2) encodes a member of the PUF family of RNA-binding proteins. It functions as a post-transcriptional regulator by binding to specific sequences in the 3' untranslated regions (UTRs) of target mRNAs, thereby repressing translation and promoting mRNA decay. PUM2 is involved in germ cell development, neurogenesis, and cell cycle control. Its dysregulation is implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PUM2 overexpression alters mRNA stability of cell cycle regulators, promoting proliferation | PMID: 25609688 |
| Ovarian cancer | PUM2 loss-of-function mutations lead to derepression of oncogenic targets | COSMIC ID: COSM1716481 |
| Neurodevelopmental delay | De novo missense variants in PUM2 disrupt RNA binding and cause intellectual disability | ClinVar: VCV000429832 |
| Retinoblastoma | PUM2 downregulation contributes to tumorigenesis via misregulation of RB1 mRNA | PMID: 23541953 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Brain | 22.1 | Medium |
| Ovary | 18.7 | Medium |
| Breast | 12.3 | Low |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.4 | Embryonic kidney; high expression |
| HeLa | 18.2 | Cervical carcinoma; moderate |
| MCF7 | 15.6 | Breast cancer; moderate |
| SH-SY5Y | 20.1 | Neuroblastoma; high |
| K562 | 10.3 | Leukemia; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.02% (gnomAD) | Reduced RNA binding affinity; associated with neurodevelopmental delay |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; observed in ovarian cancer |
| c.1567G>A (p.Gly523Arg) | Missense | 0.01% (gnomAD) | Impaired Pumilio domain; likely pathogenic |
| c.2101C>T (p.Gln701Ter) | Nonsense | Rare | Premature stop; loss of function in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Glu264fs, p.Gln701Ter) lead to truncated protein or nonsense-mediated decay, reducing PUM2 activity and derepressing target mRNAs.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for PUM2.
Dominant Negative (DN)
Missense variants in the RNA-binding domain (e.g., p.Arg412Trp) may act dominant-negative by competing with wild-type PUM2 for target sites.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of mRNA stability by PUF proteins (Reactome: R-HSA-450531)
• Post-transcriptional silencing by PUM2 (KEGG: hsa03015)
Protein Summary
PUM2 is a 1066-amino acid RNA-binding protein containing a conserved Pumilio homology domain (PUM-HD) composed of eight tandem repeats that recognize specific RNA sequences (UGUANAUA). It localizes to both cytoplasm and nucleus, where it represses translation and promotes mRNA decay of targets such as cyclin B1, p27, and E2F3. PUM2 is essential for germline stem cell maintenance, neuronal differentiation, and cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUM2 Knockout HEK293 Cell Line | EDJ-KQ7990 | Human | 23369 | Details Get a Quote |
| PUM2 Knockout HCT 116 Cell Line | EDJ-KQ32381 | Human | 23369 | Details Get a Quote |
| PUM2 Knockout A-549 Cell Line | EDJ-KQ33717 | Human | 23369 | Details Get a Quote |
| PUM2 Knockout HeLa Cell Line | EDJ-KQ33719 | Human | 23369 | Details Get a Quote |
