Gene Gene information from NCBI Gene database.
Entrez ID 3190
Gene name Heterogeneous nuclear ribonucleoprotein K
Gene symbol HNRNPK
Synonyms (NCBI Gene)
AUKSCSBPHNRPKTUNP
Chromosome 9
Chromosome location 9q21.32
Summary This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in th
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs863223402 ->C Pathogenic Coding sequence variant, splice donor variant
rs863223403 C>T Pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs879255263 ->AA Pathogenic Coding sequence variant, frameshift variant
rs886041807 ->C Pathogenic Coding sequence variant, frameshift variant
rs1064794967 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
432
miRTarBase ID miRNA Experiments Reference
MIRT004345 hsa-miR-450a-5p Western blotMicroarray 18230805
MIRT005325 hsa-miR-21-5p Luciferase reporter assayqRT-PCR 18829576
MIRT047832 hsa-miR-30c-5p CLASH 23622248
MIRT047832 hsa-miR-30c-5p CLASH 23622248
MIRT046389 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000785 Component Chromatin IDA 20371611, 33174841
GO:0002102 Component Podosome IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600712 5044 ENSG00000165119
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61978
Protein name Heterogeneous nuclear ribonucleoprotein K (hnRNP K) (Transformation up-regulated nuclear protein) (TUNP)
Protein function One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded
PDB 1J5K , 1KHM , 1ZZI , 1ZZJ , 1ZZK , 7CRE , 7CRU , 7RJK , 7RJO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08067 ROKNT 1 43 ROKNT (NUC014) domain Domain
PF00013 KH_1 44 105 KH domain Domain
PF00013 KH_1 146 211 KH domain Domain
PF00013 KH_1 389 453 KH domain Domain
Sequence
METEQPEETFPNTETNGEFGKRPAEDMEEEQAFKRSRNTDEMVELRILLQSKNAGAVIGK
GGKNIKALRTDYNASVSVPDSSGPERILSISADIETIGEILKKII
PTLEEGLQLPSPTAT
SQLPLESDAVECLNYQHYKGSDFDCELRLLIHQSLAGGIIGVKGAKIKELRENTQTTIKL
FQECCPHSTDRVVLIGGKPDRVVECIKIILD
LISESPIKGRAQPYDPNFYDETYDYGGFT
MMFDDRRGRPVGFPMRGRGGFDRMPPGRGGRPMPPSRRDYDDMSPRRGPPPPPPGRGGRG
GSRARNLPLPPPPPPRGGDLMAYDRRGRPGDRYDGMVGFSADETWDSAIDTWSPSEWQMA
YEPQGGSGYDYSYAGGRGSYGDLGGPIITTQVTIPKDLAGSIIGKGGQRIKQIRHESGAS
IKIDEPLEGSEDRIITITGTQDQIQNAQYLLQN
SVKQYSGKFF
Sequence length 463
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Viral carcinogenesis
MicroRNAs in cancer
  SUMOylation of RNA binding proteins
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
HCMV Late Events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Au-Kline syndrome Likely pathogenic; Pathogenic rs1956915416, rs1956917064, rs2133014993, rs2133042086, rs2133020093, rs1348162749, rs2133020130, rs2491980145, rs2491962567, rs2491962345, rs2491952548, rs2491985651, rs2492017096, rs863223402, rs863223403
View all (29 more)
RCV001330886
RCV001330885
RCV001391299
RCV001650471
RCV002249073
View all (39 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized hypotonia Likely pathogenic rs2133039624 RCV001526568
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HNRNPK-related disorder Likely pathogenic; Pathogenic rs2491957229, rs2491980539, rs2491962274 RCV003403071
RCV003403072
RCV003404491
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic rs1956764279 RCV001261372
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME CTD, ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31187136
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 25410660
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36261283 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28423622
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
AU-KLINE SYNDROME AU-KLINE Syndrome GENOMICS_ENGLAND_DG 19477957, 26638989, 26954065, 28771707, 29904177
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AU-KLINE SYNDROME AU-KLINE Syndrome CLINVAR_DG 26173930, 26954065, 28374925, 28771707
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AU-KLINE SYNDROME AU-KLINE Syndrome ORPHANET_DG 26173930
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AU-KLINE SYNDROME AU-KLINE Syndrome BEFREE 30793470, 31538344
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AU-KLINE SYNDROME AU-KLINE Syndrome CTD_human_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)