HNRNPC: Heterogeneous Nuclear Ribonucleoprotein C
A key RNA-binding protein involved in pre-mRNA processing and splicing regulation
Gene Information Card
| Symbol | HNRNPC |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein C |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 3183 ncbi.nlm.nih.gov/gene/3183 |
| Ensembl ID | ENSG00000092200 |
| UniProt ID | P07910 |
| OMIM ID | 164020 |
| HGNC ID | 5035 |
| Aliases | HNRNPC1, HNRNPC2, C1, C2, HNRPC |
Description
HNRNPC encodes heterogeneous nuclear ribonucleoprotein C, a member of the hnRNP family that binds pre-mRNA and regulates splicing, polyadenylation, and mRNA stability. The protein contains an RNA recognition motif (RRM) and a C-terminal glycine-rich domain. It is ubiquitously expressed and plays a role in cellular stress responses and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered HNRNPC expression affects splicing of oncogenes and tumor suppressors | COSMIC; literature |
| Neurodegenerative disorders | Dysregulation of HNRNPC contributes to aberrant RNA processing in neurons | Literature; ClinVar |
| Developmental disorders | Rare variants associated with intellectual disability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Lung | 38.1 | High |
| Liver | 32.5 | Medium |
| Heart | 28.9 | Medium |
| Skeletal Muscle | 22.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 52.1 | Cervical cancer cell line |
| HEK293 | 48.7 | Embryonic kidney cells |
| A549 | 41.3 | Lung carcinoma |
| K562 | 36.8 | Leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Alters start codon; potential loss of function |
| c.214C>T | Nonsense | Rare | Premature stop; loss of function |
| c.487G>A | Missense | Rare | p.Gly163Arg; affects RNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as oncogenic driver.
Dominant Negative (DN)
Not reported for HNRNPC.
View complete mutation data:
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • nucleoplasm (GO:0005654) |
| • cytoplasm (GO:0005737) |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
HNRNPC is a 306-amino acid protein with a molecular weight of ~33 kDa. It contains an N-terminal RNA recognition motif (RRM) that binds poly(U) tracts in pre-mRNA and a C-terminal glycine-rich domain. The protein forms tetramers and interacts with other hnRNPs to regulate splice site selection, polyadenylation, and mRNA export. Post-translational modifications include phosphorylation and arginine methylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPCL1 Knockout HEK293 Cell Line | EDJ-KQ13766 | Human | 343069 | Details Get a Quote |
| HNRNPCL2 Knockout HEK293 Cell Line | EDJ-KQ13767 | Human | 440563 | Details Get a Quote |
| HNRNPCL3 Knockout HEK293 Cell Line | EDJ-KQ13768 | Human | 649330 | Details Get a Quote |
| HNRNPCL4 Knockout HEK293 Cell Line | EDJ-KQ13769 | Human | 101060301 | Details Get a Quote |
| HNRNPCL1 Knockout HeLa Cell Line | EDJ-KQ59745 | Human | 343069 | Details Get a Quote |
| HNRNPCL2 Knockout HeLa Cell Line | EDJ-KQ60396 | Human | 440563 | Details Get a Quote |
| HNRNPCL3 Knockout HeLa Cell Line | EDJ-KQ60628 | Human | 649330 | Details Get a Quote |
| HNRNPCL4 Knockout HeLa Cell Line | EDJ-KQ60992 | Human | 101060301 | Details Get a Quote |
| HNRNPCL1 Knockout A-549 Cell Line | EDJ-KQ68214 | Human | 343069 | Details Get a Quote |
| HNRNPCL2 Knockout A-549 Cell Line | EDJ-KQ68864 | Human | 440563 | Details Get a Quote |
| HNRNPCL3 Knockout A-549 Cell Line | EDJ-KQ69099 | Human | 649330 | Details Get a Quote |
| HNRNPCL4 Knockout A-549 Cell Line | EDJ-KQ69466 | Human | 101060301 | Details Get a Quote |
| HNRNPCL1 Knockout HCT 116 Cell Line | EDJ-KQ76590 | Human | 343069 | Details Get a Quote |
| HNRNPCL2 Knockout HCT 116 Cell Line | EDJ-KQ77226 | Human | 440563 | Details Get a Quote |
| HNRNPCL3 Knockout HCT 116 Cell Line | EDJ-KQ77452 | Human | 649330 | Details Get a Quote |