PAN2 Gene
PAN2 Poly(A) Specific Ribonuclease Subunit
Gene Information Card
| Symbol | PAN2 |
|---|---|
| Full Name | PAN2 Poly(A) Specific Ribonuclease Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000135473 |
| UniProt ID | Q504Q3 |
| OMIM ID | 610205 |
| HGNC ID | 8602 |
| Aliases | PAN2, PANT2, USH3B, bA421M1.1 |
Description
The PAN2 gene encodes a subunit of the poly(A)-specific ribonuclease (PAN) complex, which is involved in mRNA deadenylation and degradation. This enzyme shortens poly(A) tails of mRNAs, regulating mRNA stability and translation. PAN2 is part of the CCR4-NOT complex and plays a role in post-transcriptional gene regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 3B | Loss-of-function mutations in PAN2 disrupt mRNA deadenylation, leading to progressive hearing and vision loss. | ClinVar, OMIM |
| Retinitis pigmentosa | PAN2 variants associated with retinal degeneration through impaired RNA metabolism. | ClinVar, OMIM |
| Hearing loss | PAN2 mutations cause non-syndromic hearing loss via defective mRNA turnover in cochlear cells. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Retina | 12.5 | Medium |
| Cochlea | 9.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | Moderate expression |
| HeLa | 7.2 | Moderate expression |
| SH-SY5Y | 6.9 | Low expression |
| ARPE-19 | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1336C>T (p.Arg446*) | Nonsense | Rare | Loss of function, associated with Usher syndrome |
| c.2045_2046del (p.Glu682Valfs*12) | Frameshift | Rare | Loss of function, hearing loss |
| c.2780G>A (p.Arg927His) | Missense | <0.01% | Unknown significance, reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature truncation, leading to loss of deadenylase activity and mRNA dysregulation.
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)
| • poly(A)-specific ribonuclease activity | • mRNA deadenylation |
| • cytoplasm | • nucleus |
| • CCR4-NOT complex | • RNA binding |
Pathways
• mRNA surveillance pathway
• RNA degradation
• Deadenylation-dependent mRNA decay
Protein Summary
PAN2 is a 1201-amino acid protein that forms a heterodimer with PAN3 to catalyze poly(A) tail shortening. It contains an exonuclease domain and a C-terminal domain for interaction with PAN3. The protein is essential for normal mRNA turnover and is highly expressed in sensory tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAN2 Knockout HEK293 Cell Line | EDJ-KQ6820 | Human | 9924 | Details Get a Quote |
| TSPAN2 Knockout HEK293 Cell Line | EDJ-KQ6897 | Human | 10100 | Details Get a Quote |
| PAN2 Knockout A-549 Cell Line | EDJ-KQ31352 | Human | 9924 | Details Get a Quote |
| PAN2 Knockout HCT 116 Cell Line | EDJ-KQ31353 | Human | 9924 | Details Get a Quote |
| PAN2 Knockout HeLa Cell Line | EDJ-KQ31354 | Human | 9924 | Details Get a Quote |
| TSPAN2 Knockout A-549 Cell Line | EDJ-KQ31513 | Human | 10100 | Details Get a Quote |
| TSPAN2 Knockout HeLa Cell Line | EDJ-KQ31514 | Human | 10100 | Details Get a Quote |
| TSPAN2 Knockout HCT 116 Cell Line | EDJ-KQ72260 | Human | 10100 | Details Get a Quote |
| PAN2 Knockout HAP1 Cell Line | EDC07954 | Human | 9924 | Details Get a Quote |
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