Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3190
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein K
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPK
Synonyms (NCBI Gene) Gene synonyms aliases
AUKS, CSBP, HNRPK, TUNP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AUKS
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004345 hsa-miR-450a-5p Western blot, Microarray 18230805
MIRT005325 hsa-miR-21-5p Luciferase reporter assay, qRT-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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0000785 Component Chromatin IDA 20371611
GO:0002102 Component Podosome IEA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600712 5044 ENSG00000165119
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Au-kline syndrome AU-KLINE SYNDROME rs863223402, rs863223403, rs879255263, rs886041807, rs1554698658, rs1554698213, rs1554698470, rs1554698681, rs1554698878, rs1554700718, rs1564062144, rs1564063967, rs1588434457, rs1588412390, rs1588432187
View all (1 more)
28374925, 26173930, 26638989, 28771707, 19477957, 26954065, 29904177
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21466612
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21466612
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Dysmorphism neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome GenCC
Associations from Text Mining
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