HNRNPC

Chr 14q11.2

heterogeneous nuclear ribonucleoprotein C

MANE:: ENST00000553300.6

OMIM: 164020 ↗NCBI: 3183 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

HNRNPC · P07910

v62025-08-01

Predicted Aligned Error matrix for HNRNPC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.4/ 100

Confident

306 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)10%
Low(50–70)42%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder, autosomal dominant 74
0.54
complex neurodevelopmental disorder
0.37
dengue disease
0.37
neurodegenerative disease
0.36
hereditary disease
0.19
microphthalmia, isolated, with coloboma
0.18
neoplasm
0.11
cancer
0.11
non-small cell lung carcinoma
0.11
hepatocellular carcinoma
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Heterogeneous nuclear ribonucleoproteins C1/C2

Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, PubMed:16010978, PubMed:7567451, PubMed:8264621). Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides (PubMed:8264621). May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilitating binding of HNRNPC, leading to regulation of mRNA splicing (PubMed:25719671)