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	NIPBL
Symbol Alias	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2
Approved Name	Nipped-B homolog (Drosophila)
Name Alias	sister chromatid cohesion 2 homolog (yeast)
Location	5p13.2
Position	chr5:36876759-37066413, 1
External Links	HGNC: 28862 Entrez Gene: 25836 Ensembl: ENSG00000164190 UCSC: uc003jkl.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs10038294	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 46)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007420	brain development	biological process	IMP[8291537]	25
GO:0005634	nucleus	cellular component	IDA[16802858]	283

GO terms by database search (count: 44)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[16682347]	563
GO:0048557	embryonic digestive tract morphogenesis	biological process	IMP[19242925]	4
GO:0061038	uterus morphogenesis	biological process	IMP[19242925]	1
GO:0042471	ear morphogenesis	biological process	IMP[8291537]	1
GO:0007064	mitotic sister chromatid cohesion	biological process	IMP[16100726]	1
GO:0048703	embryonic viscerocranium morphogenesis	biological process	IEA	1
GO:0045444	fat cell differentiation	biological process	IEA	6
GO:0045778	positive regulation of ossification	biological process	IEA	2
GO:0036033	mediator complex binding	molecular function	IEA	1
GO:0000785	chromatin	cellular component	IEA	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0003007	heart morphogenesis	biological process	IMP[8291537]	5
GO:0008022	protein C-terminus binding	molecular function	IPI[17577209]	21
GO:0047485	protein N-terminus binding	molecular function	IPI[16802858]	12
GO:0034613	cellular protein localization	biological process	IMP[17468178]	4
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[18854353]	43
GO:0040018	positive regulation of multicellular organism growth	biological process	IEA	8
GO:0048589	developmental growth	biological process	IMP[15146186]	7
GO:0034088	maintenance of mitotic sister chromatid cohesion	biological process	IMP[16682347]	1
GO:0032116	SMC loading complex	cellular component	IDA[16682347]	1
GO:0035136	forelimb morphogenesis	biological process	IMP[15146186]	2
GO:0031065	positive regulation of histone deacetylation	biological process	IDA[18854353]	2
GO:0060325	face morphogenesis	biological process	IMP[15146186]	2
GO:0007605	sensory perception of sound	biological process	IMP[15146186]	18
GO:0003151	outflow tract morphogenesis	biological process	IMP[19242925]	4
GO:0035115	embryonic forelimb morphogenesis	biological process	IMP[19242925]	2
GO:0048638	regulation of developmental growth	biological process	IMP[19242925]	1
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0042634	regulation of hair cycle	biological process	IMP[15146186]	4
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0035261	external genitalia morphogenesis	biological process	IMP[15146186]	1
GO:0070087	chromo shadow domain binding	molecular function	IPI[15882967]	1
GO:0061010	gall bladder development	biological process	IMP[19242925]	1
GO:0019827	stem cell maintenance	biological process	IEA	3
GO:0048592	eye morphogenesis	biological process	IMP[8291537]	1
GO:0006974	cellular response to DNA damage stimulus	biological process	IMP[17468178]	14
GO:0045995	regulation of embryonic development	biological process	IMP[19242925]	2
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[18854353]	62
GO:0071481	cellular response to X-ray	biological process	IMP[17468178]	1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0001656	metanephros development	biological process	NAS[15146185]	8
GO:0042826	histone deacetylase binding	molecular function	IPI[18854353]	13
GO:0050890	cognition	biological process	IMP[15146186]	11

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NIPBL	DBN1	NO	yeast 2-hybrid	16169070
NIPBL	PRSS23	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10038294	chr5:36913976 - 36913976(1)	intron_variant	1(0/1/0)

LD-proxies (count: 0)

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 5	chr5:0-181538259	3 (0/2/1)
5p13.3-q13.3	chr5:28900000-77600000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:36876759..37066413 View in gBrowse