HNRNPK
Chr 9ADheterogeneous nuclear ribonucleoprotein K
Also known as: AUKS, CSBP, HNRPK, TUNP
The protein functions as an RNA-binding protein that complexes with heterogeneous nuclear RNA in the nucleus, influencing pre-mRNA processing and mRNA metabolism, with a distinct binding preference for poly(C) sequences. Loss-of-function mutations cause Au-Kline syndrome, inherited in an autosomal dominant pattern. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HNRNPK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGLongitudinal Study of Neurogenetic Disorders
RECRUITINGExternal Resources
Links to major genomics databases and tools