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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
77
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV002250047
RCV002274461
RCV002282750
RCV002285084
RCV002287866
RCV002466335
RCV002472166
RCV002470441
RCV000195287
RCV000195291
RCV000239391
RCV002810025
RCV003148044
RCV003152908
RCV003989822
RCV005870120
RCV000599465
RCV003315468
RCV003315469
RCV003336595
RCV003985999
RCV004527109
RCV004566630
RCV004594969
RCV004595182
RCV004595183
RCV000599421
RCV000598764
RCV000598720
RCV000599062
RCV000599087
RCV000625962
RCV000761597
RCV000766266
RCV000825009
RCV000850378
RCV000991218
RCV001009606
RCV001197488
Generalized hypotonia Likely pathogenic rs2133039624 RCV001526568
HNRNPK-related disorder Likely pathogenic; Pathogenic rs2491957229, rs2491980539, rs2491962274 RCV003403071
RCV003403072
RCV003404491
Intellectual disability Pathogenic rs1956764279 RCV001261372
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs572386998 RCV005928451
Sarcoma Benign rs116557087 RCV005913272
Thyroid cancer, nonmedullary, 1 Likely benign rs369863171 RCV005907455
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30272263
Adenocarcinoma of Lung Associate 26972480, 31187136, 35091468
Alzheimer's disease without Neurofibrillary tangles Associate 34274995
Amyotrophic Lateral Sclerosis Associate 36261283
Anemia Diamond Blackfan Associate 33660773
Breast Neoplasms Associate 30468106, 33806648, 40604083
Burkitt Lymphoma Associate 26317903
Calcinosis Cutis Associate 26713736
Capillary Malformation Arteriovenous Malformation Associate 26173930
Carcinogenesis Associate 16953238, 19609950, 20499280, 25645922, 26713736, 27862976, 31187136, 35866661, 36209503, 36681772, 36700980