HNRNPH3 (Heterogeneous Nuclear Ribonucleoprotein H3)
A member of the hnRNP H family involved in RNA splicing and processing, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | HNRNPH3 |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein H3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 3189 ncbi.nlm.nih.gov/gene/3189 |
| Ensembl ID | ENSG00000196787 |
| UniProt ID | P31942 |
| OMIM ID | 602425 |
| HGNC ID | 5042 |
| Aliases | HNRPH3, hnRNP H3, HNRPH3, FLJ20291 |
Description
HNRNPH3 encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) H family. The protein is involved in pre-mRNA splicing, polyadenylation, and RNA metabolism. It binds to G-rich sequences in RNA and regulates alternative splicing of target transcripts. HNRNPH3 is ubiquitously expressed and has been implicated in cancer progression and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered splicing of oncogenes and tumor suppressors; overexpression promotes cell proliferation | COSMIC; PMID: 25691885 |
| Amyotrophic lateral sclerosis (ALS) | Dysregulation of RNA processing; interaction with TDP-43 | ClinVar; PMID: 23933754 |
| Spinal muscular atrophy (SMA) | Modulation of SMN2 splicing | PMID: 17671047 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Lung | 11.3 | Medium |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | High expression |
| HEK293 | 16.1 | High expression |
| K562 | 14.7 | Medium expression |
| HepG2 | 13.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.586G>A (p.Gly196Arg) | Missense | <0.1% | Altered RNA binding affinity; potential gain-of-function |
| c.742C>T (p.Arg248Trp) | Missense | <0.1% | Reduced splicing regulation; loss-of-function |
| c.1021_1023del (p.Lys341del) | In-frame deletion | <0.1% | Impaired nuclear localization |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce RNA binding or splicing activity, e.g., p.Arg248Trp.
Gain of Function (GOF)
Mutations that enhance oncogenic splicing, e.g., p.Gly196Arg.
Dominant Negative (DN)
Not well characterized; some deletions may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • nucleus |
| • nucleoplasm | • poly(A) RNA binding |
| • regulation of alternative mRNA splicing |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
HNRNPH3 is a 346-amino acid protein with three RNA recognition motifs (RRMs). It shuttles between nucleus and cytoplasm, binding to G-rich sequences to regulate splicing and polyadenylation. The protein interacts with other hnRNPs and splicing factors, and its dysregulation contributes to cancer and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPH3 Knockout HEK293 Cell Line | EDJ-KQ4898 | Human | 3189 | Details Get a Quote |
| HNRNPH3 Knockout A-549 Cell Line | EDJ-KQ27716 | Human | 3189 | Details Get a Quote |
| HNRNPH3 Knockout HCT 116 Cell Line | EDJ-KQ27717 | Human | 3189 | Details Get a Quote |
| HNRNPH3 Knockout HeLa Cell Line | EDJ-KQ27718 | Human | 3189 | Details Get a Quote |
