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.

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 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
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