HNRNPC

Chr 14AD

heterogeneous nuclear ribonucleoprotein C

Also known as: HNRNP, HNRPC, MRD74, SNRPC

NCBI Gene: 3183ENSG00000092199UniProt: P07910OMIM: 164020

The protein binds pre-mRNA and nucleates assembly of 40S ribonucleoprotein particles, playing essential roles in mRNA splicing, stability, and translation regulation. Mutations cause autosomal dominant intellectual developmental disorder. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), indicating that heterozygous variants can cause disease.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.291 OMIM phenotype
Clinical Summary— HNRNPC
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
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ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 47 VUS of 121 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.29LOEUF
pLI 0.978
Z-score 3.48
OE 0.06 (0.02–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.89Z-score
OE missense 0.39 (0.32–0.48)
70 obs / 179.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.06 (0.02–0.29)
0≤0.351.4
Missense OE0.39 (0.32–0.48)
0≤0.61.4
Synonymous OE1.17
0≤1.21.6
LoF obs/exp: 1 / 16.1Missense obs/exp: 70 / 179.0Syn Z: -1.06
DN
0.2798th %ile
GOF
0.2895th %ile
LOF
0.85top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.29

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

121 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic4
VUS47
Likely Benign2
Conflicting1
32
Pathogenic
4
Likely Pathogenic
47
VUS
2
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
30
0
32
Likely Pathogenic
0
0
4
0
4
VUS
1
25
21
0
47
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Conflicting
—1
Total22855086

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HNRNPC · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
HNRNPC promotes collagen fiber alignment and immune evasion in breast cancer via activation of the VIRMA-mediated TFAP2A/DDR1 axis
Lian B et al.·Mol Med
2023
m6A Reader HNRNPC Facilitates Adipogenesis by Regulating Cytoskeletal Remodeling through Enhanced Lcp1 mRNA Stability
Xie W et al.·Aging Dis
2024Functional
Bioinformatic analyses and experimental validation of the role of m6A RNA methylation regulators in progression and prognosis of adrenocortical carcinoma
Xu F et al.·Aging (Albany NY)
2021
Heterogeneous nuclear ribonucleoprotein C promotes non-small cell lung cancer progression by enhancing XB130 mRNA stability and translation
Wang Q et al.·Cancer Cell Int
2025
CircPPAP2B controls metastasis of clear cell renal cell carcinoma via HNRNPC-dependent alternative splicing and targeting the miR-182-5p/CYP1B1 axis
Zheng Z et al.·Mol Cancer
2024
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients