HNRNPF Gene: Structure, Function, and Clinical Significance
Comprehensive overview of the HNRNPF gene, its protein product, expression patterns, and associated diseases.
Gene Information Card
| Symbol | HNRNPF |
|---|---|
| Full Name | heterogeneous nuclear ribonucleoprotein F |
| Gene Type | protein coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 3185 ncbi.nlm.nih.gov/gene/3185 |
| Ensembl ID | ENSG00000169813 |
| UniProt ID | P52597 |
| OMIM ID | 601037 |
| HGNC ID | 5037 |
| Aliases | hnRNP F, HNRPF, mcs94-1 |
Description
The HNRNPF gene encodes heterogeneous nuclear ribonucleoprotein F, a member of the hnRNP family. This protein is involved in pre-mRNA processing, particularly in splicing regulation, and binds to poly(U) and poly(G) sequences. It plays roles in mRNA transport, metabolism, and gene expression regulation. The protein is localized in the nucleus and is part of the spliceosome complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and splicing regulation | COSMIC lists HNRNPF mutations in multiple cancer types; studies suggest role in tumorigenesis |
| Neurodegenerative disorders | Potential involvement in RNA metabolism | Limited evidence; indirect via interaction with other hnRNPs |
| Developmental disorders | Not directly associated | No strong evidence; HNRNPF mutations are rare in germline |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High expression in cerebral cortex and cerebellum |
| Testis | High | High expression in testicular tissue |
| Liver | Medium | Moderate expression |
| Kidney | Medium | Moderate expression |
| Heart | Low | Low expression |
| Lung | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high expression |
| K562 | Medium | Leukemia cell line; moderate expression |
| A549 | Medium | Lung carcinoma; moderate expression |
| HepG2 | Medium | Liver cancer; moderate expression |
| MCF7 | Low | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | Rare | Potential impact on RNA binding; not well characterized |
| c.456C>T (p.S152F) | Missense | Rare | Unknown effect; found in cancer samples |
| c.789del (p.K263fs) | Frameshift | Rare | Predicted loss of function; not confirmed |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and not well documented; may affect splicing regulation.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • nucleotide binding | • protein binding |
| • nucleus | • nucleoplasm |
| • spliceosomal complex | • mRNA processing |
| • RNA splicing | • regulation of alternative mRNA splicing |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
• Gene Expression
Protein Summary
The HNRNPF protein is a 415-amino acid RNA-binding protein with three quasi-RNA recognition motifs (qRRMs). It preferentially binds to poly(G) and poly(U) sequences in RNA. It is involved in pre-mRNA splicing, particularly in the regulation of alternative splicing. It interacts with other hnRNPs and spliceosomal components. The protein is predominantly nuclear but can shuttle between nucleus and cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPF Knockout HEK293 Cell Line | EDJ-KQ4899 | Human | 3185 | Details Get a Quote |
| HNRNPF Knockout HeLa Cell Line | EDJ-KQ26503 | Human | 3185 | Details Get a Quote |
| HNRNPF Knockout A-549 Cell Line | EDJ-KQ27719 | Human | 3185 | Details Get a Quote |
| HNRNPF Knockout HCT 116 Cell Line | EDJ-KQ27720 | Human | 3185 | Details Get a Quote |
| HNRNPF(p.K224R, c.671A>G)Point Mutation in HT-29 Cell Line | EDC90377 | Human | 3185 | Details Get a Quote |
| HNRNPF(p.K224R*)Point Mutation in SW620 Cell Line | EDC90378 | Human | 3185 | Details Get a Quote |
