Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	NEK4
Previous Symbol	STK2
Symbol Alias	NRK2, pp12301
Approved Name	NIMA-related kinase 4
Previous Name	serine/threonine kinase 2, "NIMA (never in mitosis gene a)-related kinase 4"
Name Alias	serine/threonine protein kinase-2
Location	3p21.1
Position	chr3:52708449-52770949, -1
External Links	HGNC: 11399 Entrez Gene: 6787 Ensembl: ENSG00000114904 UCSC: uc003dfq.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BD:Smallest P-value per gene=0.00636, Product of P truncation <=0.01=0.00346, Product of P truncation <=0.001=NA. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004674	protein serine/threonine kinase activity	molecular function	ISS	27

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:2001020	regulation of response to DNA damage stimulus	biological process	IMP[22851694]	2
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IMP[22851694]	58
GO:0006468	protein phosphorylation	biological process	ISS	42
GO:0030145	manganese ion binding	molecular function	ISS	5
GO:0005524	ATP binding	molecular function	IEA	118
GO:0035556	intracellular signal transduction	biological process	IBA	38
GO:0007067	mitotic nuclear division	biological process	IEA	15
GO:2000772	regulation of cellular senescence	biological process	IMP[22851694]	3
GO:0000278	mitotic cell cycle	biological process	IMP[22851694]	33
GO:0006974	cellular response to DNA damage stimulus	biological process	IMP[22851694]	14
GO:0004702	receptor signaling protein serine/threonine kinase activity	molecular function	IBA	5
GO:0023014	signal transduction by phosphorylation	biological process	IBA	5
GO:0051301	cell division	biological process	IEA	20
GO:0005929	cilium	cellular component	IEA	10
GO:1900062	regulation of replicative cell aging	biological process	IMP[22851694]	1
GO:0005737	cytoplasm	cellular component	IBA; ISS	322

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 33)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2268026	chr3:52744331 - 52744331(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 32)

rs_ID	Location	Functional Annotation
rs12635140	chr3:52704149 - 52704149(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs8906	chr3:52705504 - 52705504(1)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs13079063	chr3:52710444 - 52710444(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs998909	chr3:52771077 - 52771077(1)	upstream_gene_variant
rs34017441	chr3:52708397 - 52708397(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs35526119	chr3:52715318 - 52715318(1)	downstream_gene_variant; intron_variant
rs7624716	chr3:52717518 - 52717518(1)	intron_variant
rs10780035	chr3:52730608 - 52730608(1)	intron_variant; upstream_gene_variant
rs2079929	chr3:52731630 - 52731630(1)	intron_variant; upstream_gene_variant
rs6617	chr3:52706166 - 52706166(1)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs3755798	chr3:52707144 - 52707144(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs6445534	chr3:52709368 - 52709368(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs11716747	chr3:52714841 - 52714841(1)	downstream_gene_variant; intron_variant
rs2072390	chr3:52746493 - 52746493(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs2159644	chr3:52740514 - 52740514(1)	downstream_gene_variant; intron_variant
rs2336545	chr3:52753587 - 52753587(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs13082960	chr3:52751152 - 52751152(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs767418	chr3:52733411 - 52733411(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2268027	chr3:52732590 - 52732590(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs6445535	chr3:52737452 - 52737452(1)	downstream_gene_variant; intron_variant
rs11130323	chr3:52736261 - 52736261(1)	downstream_gene_variant; intron_variant
rs1014969	chr3:52774325 - 52774325(1)	upstream_gene_variant
rs11717836	chr3:52773720 - 52773720(1)	upstream_gene_variant
rs1029871	chr3:52763618 - 52763618(1)	downstream_gene_variant; missense_variant
rs12497998	chr3:52759586 - 52759586(1)	downstream_gene_variant; intron_variant
rs13071584	chr3:52770471 - 52770471(1)	intron_variant; NMD_transcript_variant
rs2230535	chr3:52766268 - 52766268(1)	downstream_gene_variant; synonymous_variant
rs11235	chr3:52711071 - 52711071(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs13082208	chr3:52747523 - 52747523(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs3755799	chr3:52775177 - 52775177(1)	upstream_gene_variant
rs2268025	chr3:52761208 - 52761208(1)	intron_variant
rs2019065	chr3:52775509 - 52775509(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p21	chr3:43600000-54400000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
19065143	In SZ:Smallest P-value per gene=0.00199, Product of P truncation <=0.01=0.00196, Product of P truncation <=0.001=0.00199 It showed evidence for association with SZ.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr3:52708449..52770949 View in gBrowse