Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91754
Gene name Gene Name - the full gene name approved by the HGNC.
NIMA related kinase 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NEK9
Synonyms (NCBI Gene) Gene synonyms aliases
APUG, LCCS10, NC, NERCC, NERCC1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs142859694 C>A,T Pathogenic Coding sequence variant, missense variant
rs757011098 G>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs879253775 A>G Pathogenic Coding sequence variant, missense variant
rs886037838 C>A Pathogenic Splice donor variant
rs886037839 C>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002635 hsa-miR-124-3p Microarray 18668037
MIRT002635 hsa-miR-124-3p Microarray 15685193
MIRT029337 hsa-miR-26b-5p Microarray 19088304
MIRT052110 hsa-let-7b-5p CLASH 23622248
MIRT042950 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000278 Process Mitotic cell cycle IDA 12840024, 19941817
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IDA 12840024, 19941817
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609798 18591 ENSG00000119638
Protein
UniProt ID Q8TD19
Protein name Serine/threonine-protein kinase Nek9 (EC 2.7.11.1) (Nercc1 kinase) (Never in mitosis A-related kinase 9) (NimA-related protein kinase 9) (NimA-related kinase 8) (Nek8)
Protein function Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation (PubMed:12101123, PubMed:12840024, PubMed:14660563, PubMed:19941817). Phosphorylates different histones, myelin basic protei
PDB 3ZKE , 3ZKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 52 308 Protein kinase domain Domain
PF00415 RCC1 389 441 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 444 495 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 499 547 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 615 665 Regulator of chromosome condensation (RCC1) repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Most abundant in heart, liver, kidney and testis. Also expressed in smooth muscle cells and fibroblasts. {ECO:0000269|PubMed:11864968}.
Sequence
MSVLGEYERHCDSINSDFGSESGGCGDSSPGPSASQGPRAGGGAAEQEELHYIPIRVLGR
GAFGEATLYRRTEDDSLVVWKEVDLTRLSEKERRDALNEIVILALLQHDNIIAYYNHFMD
NTTLLIELEYCNGGNLYDKILRQKDKLFEEEMVVWYLFQIVSAVSCIHKAGILHRDIKTL
NIFLTKANLIKLGDYGLAKKLNSEYSMAETLVGTPYYMSPELCQGVKYNFKSDIWAVGCV
IFELLTLKRTFDATNPLNLCVKIVQGIRAMEVDSSQYSLELIQMVHSCLDQDPEQRPTAD
ELLDRPLL
RKRRREMEEKVTLLNAPTKRPRSSTVTEAPIAVVTSRTSEVYVWGGGKSTPQ
KLDVIKSGCSARQVCAGNTHFAVVTVEKELYTWVNMQGGTKLHGQLGHGDKASYRQPKHV
EKLQGKAIRQVSCGDDFTVCV
TDEGQLYAFGSDYYGCMGVDKVAGPEVLEPMQLNFFLSN
PVEQVSCGDNHVVVL
TRNKEVYSWGCGEYGRLGLDSEEDYYTPQKVDVPKALIIVAVQCG
CDGTFLL
TQSGKVLACGLNEFNKLGLNQCMSGIINHEAYHEVPYTTSFTLAKQLSFYKIR
TIAPGKTHTAAIDERGRLLTFGCNKCGQLGVGNYKKRLGINLLGGPLGGKQVIRVSCGDE
FTIAA
TDDNHIFAWGNGGNGRLAMTPTERPHGSDICTSWPRPIFGSLHHVPDLSCRGWHT
ILIVEKVLNSKTIRSNSSGLSIGTVFQSSSPGGGGGGGGGEEEDSQQESETPDPSGGFRG
TMEADRGMEGLISPTEAMGNSNGASSSCPGWLRKELENAEFIPMPDSPSPLSAAFSESEK
DTLPYEELQGLKVASEAPLEHKPQVEASSPRLNPAVTCAGKGTPLTPPACACSSLQVEVE
RLQGLVLKCLAEQQKLQQENLQIFTQLQKLNKKLEGGQQVGMHSKGTQTAKEEMEMDPKP
DLDSDSWCLLGTDSCRPSL
Sequence length 979
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Activation of NIMA Kinases NEK9, NEK6, NEK7
Nuclear Pore Complex (NPC) Disassembly
EML4 and NUDC in mitotic spindle formation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Skeletal Dysplasia nek9-related lethal skeletal dysplasia rs757011098 N/A
Nevus comedonicus nevus comedonicus syndrome rs1555352529, rs879253775 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy arthrogryposis, perthes disease, and upward gaze palsy N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Airway Remodeling Associate 31961058
Allan Herndon Dudley syndrome Associate 36611072
Breast Neoplasms Associate 35935324
Colorectal Neoplasms Associate 36611072
Glioblastoma Associate 26956052
Leukemia Myeloid Acute Associate 34051812
Lymphatic Metastasis Associate 35935324
Melanoma Associate 29112787, 37558831
Meningioma Associate 30594554
Neoplasm Metastasis Associate 36611072, 37443302