Gene Gene information from NCBI Gene database.
Entrez ID 6787
Gene name NIMA related kinase 4
Gene symbol NEK4
Synonyms (NCBI Gene)
NRK2STK2pp12301
Chromosome 3
Chromosome location 3p21.1
Summary The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs770418305 ->T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
109
miRTarBase ID miRNA Experiments Reference
MIRT004215 hsa-miR-197-3p Microarray 16822819
MIRT686017 hsa-miR-3714 HITS-CLIP 23313552
MIRT686016 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT686015 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT686014 hsa-miR-6808-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000278 Process Mitotic cell cycle IMP 22851694
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
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
601959 11399 ENSG00000114904
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51957
Protein name Serine/threonine-protein kinase Nek4 (EC 2.7.11.1) (Never in mitosis A-related kinase 4) (NimA-related protein kinase 4) (Serine/threonine-protein kinase 2) (Serine/threonine-protein kinase NRK2)
Protein function Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycl
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 6 261 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in adult heart, followed by pancreas, skeletal muscle, brain, testis, retina, liver, kidney, lung and placenta. Present in most primary carcinomas. {ECO:0000269|PubMed:21685204, ECO:0000269|PubMed:8208544}.
Sequence
MPLAAYCYLRVVGKGSYGEVTLVKHRRDGKQYVIKKLNLRNASSRERRAAEQEAQLLSQL
KHPNIVTYKESWEGGDGLLYIVMGFCEGGDLYRKLKEQKGQLLPENQVVEWFVQIAMALQ
YLHEKHILHRDLKTQNVFLTRTNIIKVGDLGIARVLENHCDMASTLIGTPYYMSPELFSN
KPYNYKSDVWALGCCVYEMATLKHAFNAKDMNSLVYRIIEGKLPPMPRDYSPELAELIRT
MLSKRPEERPSVRSILRQPYI
KRQISFFLEATKIKTSKNNIKNGDSQSKPFATVVSGEAE
SNHEVIHPQPLSSEGSQTYIMGEGKCLSQEKPRASGLLKSPASLKAHTCKQDLSNTTELA
TISSVNIDILPAKGRDSVSDGFVQENQPRYLDASNELGGICSISQVEEEMLQDNTKSSAQ
PENLIPMWSSDIVTGEKNEPVKPLQPLIKEQKPKDQSLALSPKLECSGTILAHSNLRLLG
SSDSPASASRVAGITGVCHHAQDQVAGECIIEKQGRIHPDLQPHNSGSEPSLSRQRRQKR
REQTEHRGEKRQVRRDLFAFQESPPRFLPSHPIVGKVDVTSTQKEAENQRRVVTGSVSSS
RSSEMSSSKDRPLSARERRRLKQSQEEMSSSGPSVRKASLSVAGPGKPQEEDQPLPARRL
SSDCSVTQERKQIHCLSEDELSSSTSSTDKSDGDYGEGKGQTNEINALVQLMTQTLKLDS
KESCEDVPVANPVSEFKLHRKYRDTLILHGKVAEEAEEIHFKELPSAIMPGSEKIRRLVE
VLRTDVIRGLGVQLLEQVYDLLEEEDEFDREVRLREHMGEKYTTYSVKARQLKFFEENMN
F
Sequence length 841
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Ciliopathy Likely pathogenic rs770418305 RCV000256411
★★★★☆
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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
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 large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 32238911 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder PSYGENET_DG 21926972, 25136889
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 21926972, 33772305, 37418754 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASDB_DG 22182935
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 20103636, 30247800
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 27894351 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliopathies Ciliopathies CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon Carcinoma Colon Carcinoma BEFREE 28370249
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29182684
★☆☆☆☆
Found in Text Mining only