Gene Gene information from NCBI Gene database.
Entrez ID 91754
Gene name NIMA related kinase 9
Gene symbol NEK9
Synonyms (NCBI Gene)
APUGLCCS10NCNERCCNERCC1
Chromosome 14
Chromosome location 14q24.3
Summary 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.
8
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.
536
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609798 18591 ENSG00000119638
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis, Perthes disease, and upward gaze palsy Likely pathogenic rs1327520738, rs1362564667, rs2503501853 RCV001332756
RCV003494516
RCV003494518
Goldberg-Shprintzen syndrome Likely pathogenic rs2139820216, rs1402196530 RCV001730015
RCV001730016
NEK9-related lethal skeletal dysplasia Pathogenic; Likely pathogenic rs757011098, rs1362564667, rs2503501853 RCV000234925
RCV003494516
RCV003494518
Nevus comedonicus syndrome Pathogenic rs1555352529, rs879253775 RCV000234968
RCV000240653
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs886037839, rs886037838 -
Cleft palate Likely benign rs534245464 RCV000845273
Congenital contracture Uncertain significance rs1167437528 RCV002244254
Congenital omphalocele Uncertain significance rs1167437528 RCV002244254
Associations from Text MiningDisease 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