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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HNRNPK
heterogeneous nuclear ribonucleoprotein K
Chromosome 9 Β· 9q21.32
NCBI Gene: 3190Ensembl: ENSG00000165119.23HGNC: HGNC:5044UniProt: B4DUQ1
628PubMed Papers
21Diseases
0Drugs
80Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
focal adhesionrandom inactivation of X chromosomenucleuscytoplasmAu-Kline syndromegenetic disorderneurodegenerative diseasedengue disease
✦AI Summary

HNRNPK is a major pre-mRNA-binding protein that binds tenaciously to poly(C) sequences and plays multifaceted roles in RNA metabolism and transcriptional regulation. 1 Mechanistically, HNRNPK functions as a transcriptional coactivator of p53 when sumoylated, regulating p21 and 14-3-3 sigma induction, while also mediating p53-dependent apoptosis through interaction with lincRNA-p21. 1 Beyond p53 signaling, HNRNPK participates in alternative splicing regulation in prostate cancer through FOXA1-mediated control and impacts the splicing landscape of oncogenic genes. 2 HNRNPK demonstrates critical roles in cellular communication and chr9 biology. It is actively packaged into extracellular vesicles through LC3-conjugation machinery, facilitating RNA sorting and secretion. 3 During X chromosome 9, HNRNPK interacts with Xist lncRNA to mediate gene silencing through liquid-liquid phase separation, concentrating silencing factors on the chr9. 4 In cancer contexts, HNRNPK promotes primary liver cancer development by stabilizing YAP downstream of TNFR2 signaling in hepatic progenitor cells, with elevated expression correlating to poor prognosis. 5 Clinically, HNRNPK mutations are associated with Au-Kline syndrome and constitute a significant component of neurodevelopmental disorders. 6 Rare deleterious variants in HNRNPK and related hnRNP genes cause shared neurodevelopmental phenotypes linked to disrupted cerebral cortical development.

Sources cited
1
HNRNPK's role as p53 transcriptional coactivator when sumoylated and interaction with lincRNA-p21 in apoptosis regulation
PMID: 33174841
2
HNRNPK regulation by FOXA1 and its role in alternative splicing dysregulation in prostate cancer
PMID: 36170835
3
HNRNPK packaging into extracellular vesicles through LC3-conjugation machinery-dependent secretion
PMID: 31932738
4
HNRNPK interaction with Xist RNA driving liquid-liquid phase separation for X chromosome inactivation
PMID: 39824183
5
HNRNPK-TNFR2-YAP signaling axis promoting primary liver cancer development with prognostic significance
PMID: 33619115
6
HNRNPK mutations associated with neurodevelopmental disorders and Au-Kline syndrome with critical role in cerebral cortical development
PMID: 33874999
Disease Associationsβ“˜21
Au-Kline syndromeOpen Targets
0.79Strong
genetic disorderOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
dengue diseaseOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.45Moderate
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndromeOpen Targets
0.42Moderate
viral diseaseOpen Targets
0.37Weak
infectious diseaseOpen Targets
0.37Weak
smoking initiationOpen Targets
0.29Weak
Generalized hypotoniaOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
risk-taking behaviourOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
migraine disorderOpen Targets
0.19Weak
polydactylyOpen Targets
0.19Weak
smoking behaviorOpen Targets
0.16Weak
attention deficit hyperactivity disorderOpen Targets
0.16Weak
substance abuseOpen Targets
0.16Weak
cervical carcinomaOpen Targets
0.16Weak
systemic lupus erythematosusOpen Targets
0.15Weak
Au-Kline syndromeUniProt
Pathogenic Variants80
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)Pathogenic
Au-Kline syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 287
NM_031263.4(HNRNPK):c.214-35A>GLikely pathogenic
Au-Kline syndrome
β˜…β˜…β˜†β˜†2024
NM_031263.4(HNRNPK):c.136C>T (p.Arg46Cys)Pathogenic
Au-Kline syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 46
NM_031263.4(HNRNPK):c.1108+1G>TPathogenic
not provided|Au-Kline syndrome
β˜…β˜…β˜†β˜†2024
NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter)Pathogenic
Neonatal encephalopathy|not provided|Au-Kline syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 296
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)Pathogenic
Au-Kline syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 225
NM_031263.4(HNRNPK):c.1008+1G>APathogenic
not provided|Au-Kline syndrome
β˜…β˜…β˜†β˜†2019
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)Pathogenic
Au-Kline syndrome
β˜…β˜…β˜†β˜†2018β†’ Residue 86
NM_031263.4(HNRNPK):c.248G>A (p.Gly83Asp)Likely pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2018β†’ Residue 83
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)Pathogenic
not provided|Au-Kline syndrome
β˜…β˜…β˜†β˜†2018β†’ Residue 261
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)Pathogenic
Au-Kline syndrome
β˜…β˜…β˜†β˜†2018β†’ Residue 333
NM_031263.4(HNRNPK):c.553T>G (p.Cys185Gly)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 185
NM_031263.4(HNRNPK):c.533T>G (p.Ile178Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 178
NM_031263.4(HNRNPK):c.1303A>G (p.Ile435Val)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 435
NM_031263.4(HNRNPK):c.1204ATT[1] (p.Ile403del)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 403
NM_031263.4(HNRNPK):c.1291del (p.Glu431fs)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 431
NM_031263.4(HNRNPK):c.838dup (p.Tyr280fs)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 280
NM_031263.4(HNRNPK):c.1214A>C (p.Lys405Thr)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 405
NM_031263.4(HNRNPK):c.462T>G (p.Ser154Arg)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 154
NM_031263.4(HNRNPK):c.446T>C (p.Leu149Pro)Likely pathogenic
Au-Kline syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 149
View on ClinVar β†—
Related Genes
TP53Protein interaction100%ILF3Protein interaction100%DESI1Protein interaction99%PTBP1Protein interaction99%FUSProtein interaction99%HNRNPA1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
93%
Heart
60%
Lung
56%
Ovary
54%
Liver
46%
Gene Interaction Network
Click a node to explore
HNRNPKTP53ILF3DESI1PTBP1FUSHNRNPA1
PROTEIN STRUCTURE
Preparing viewer…
PDB1ZZK Β· 0.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.24Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.03–0.24]
RankingsWhere HNRNPK stands among ~20K protein-coding genes
  • #363of 20,598
    Most Researched628 Β· top 5%
  • #926of 5,498
    Most Pathogenic Variants80 Β· top quartile
  • #713of 17,882
    Most Constrained (LOEUF)0.24 Β· top 5%
Genes detectedHNRNPK
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
A TNFR2-hnRNPK Axis Promotes Primary Liver Cancer Development via Activation of YAP Signaling in Hepatic Progenitor Cells.
PMID: 33619115
Cancer Res Β· 2021
1.00
2
FOXA1 regulates alternative splicing in prostate cancer.
PMID: 36170835
Cell Rep Β· 2022
0.90
3
Integrative proteomic profiling of tumor and plasma extracellular vesicles identifies a diagnostic biomarker panel for colorectal cancer.
PMID: 40311616
Cell Rep Med Β· 2025
0.84
4
The tumor suppressor HNRNPK induces p53-dependent nucleolar stress to drive ribosomopathies.
PMID: 40338663
J Clin Invest Β· 2025
0.80
5
RNA packaging into extracellular vesicles: An orchestra of RNA-binding proteins?
PMID: 33391635
J Extracell Vesicles Β· 2020
0.80