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NEK4 NIMA related kinase 4 [ Homo sapiens (human) ]

Gene ID: 6787, updated on 5-Sep-2021

Summary

Official Symbol
NEK4provided by HGNC
Official Full Name
NIMA related kinase 4provided by HGNC
Primary source
HGNC:HGNC:11399
See related
Ensembl:ENSG00000114904 MIM:601959
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRK2; STK2; pp12301
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 role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]
Expression
Broad expression in testis (RPKM 13.9), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs
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Genomic context

See NEK4 in Genome Data Viewer
Location:
3p21.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52708444..52770946, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52742460..52804956, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein nucleolar 3 Neighboring gene small nucleolar RNA, C/D box 69 Neighboring gene glycosyltransferase 8 domain containing 1 Neighboring gene signal peptidase complex subunit 1 Neighboring gene zinc finger protein 610 pseudogene Neighboring gene adenylate kinase 3 pseudogene Neighboring gene AKT-interacting protein-like Neighboring gene inter-alpha-trypsin inhibitor heavy chain 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
GeneReviews: Not available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables manganese ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary plasm IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary rootlet IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary transition zone IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase Nek4
Names
NIMA (never in mitosis gene a)-related kinase 4
never in mitosis A-related kinase 4
nimA-related protein kinase 4
serine/threonine kinase 2
serine/threonine protein kinase-2
serine/threonine-protein kinase NRK2
serine/threonine-protein kinase Nek4 variant 2
NP_001180462.1
NP_001335341.1
NP_001335342.1
NP_001335343.1
NP_003148.2
XP_011532341.1
XP_011532342.1
XP_016862574.1
XP_016862575.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053026.1 RefSeqGene

    Range
    5010..67506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193533.3NP_001180462.1  serine/threonine-protein kinase Nek4 isoform 2

    See identical proteins and their annotated locations for NP_001180462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate, in-frame, 5' coding region segment, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AC104446, AK294165, DB073127, L20321
    Consensus CDS
    CCDS54593.1
    UniProtKB/Swiss-Prot
    P51957
    Related
    ENSP00000437703.1, ENST00000535191.5
    Conserved Domains (2) summary
    smart00220
    Location:31172
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:5172
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001348412.2NP_001335341.1  serine/threonine-protein kinase Nek4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC006254, AC104446
    Conserved Domains (1) summary
    cd08223
    Location:5261
    STKc_Nek4; Catalytic domain of the Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 4
  3. NM_001348413.2NP_001335342.1  serine/threonine-protein kinase Nek4 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC006254
    Consensus CDS
    CCDS87089.1
    UniProtKB/Swiss-Prot
    P51957
    Related
    ENSP00000373227.4, ENST00000383721.8
    Conserved Domains (1) summary
    cd08223
    Location:5261
    STKc_Nek4; Catalytic domain of the Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 4
  4. NM_001348414.2NP_001335343.1  serine/threonine-protein kinase Nek4 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC006254, AC104446
    Conserved Domains (1) summary
    cl21453
    Location:1179
    PKc_like; Protein Kinases, catalytic domain
  5. NM_003157.6NP_003148.2  serine/threonine-protein kinase Nek4 isoform 1

    See identical proteins and their annotated locations for NP_003148.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC104446, BC015515, DB073127, L20321
    Consensus CDS
    CCDS2863.1
    UniProtKB/Swiss-Prot
    P51957
    UniProtKB/TrEMBL
    Q05DF6
    Related
    ENSP00000233027.5, ENST00000233027.10
    Conserved Domains (2) summary
    smart00220
    Location:6261
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08223
    Location:5261
    STKc_Nek4; Catalytic domain of the Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52708444..52770946 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534039.3XP_011532341.1  serine/threonine-protein kinase Nek4 isoform X2

    Related
    ENSP00000419666.1, ENST00000461689.5
    Conserved Domains (2) summary
    smart00220
    Location:6261
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08223
    Location:5261
    STKc_Nek4; Catalytic domain of the Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 4
  2. XM_017007085.1XP_016862574.1  serine/threonine-protein kinase Nek4 isoform X1

  3. XM_017007086.1XP_016862575.1  serine/threonine-protein kinase Nek4 isoform X3

  4. XM_011534040.3XP_011532342.1  serine/threonine-protein kinase Nek4 isoform X4

    Conserved Domains (2) summary
    smart00220
    Location:6261
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08223
    Location:5261
    STKc_Nek4; Catalytic domain of the Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 4
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