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	NUMB
Previous Symbol	C14orf41
Approved Name	numb homolog (Drosophila)
Previous Name	numb (Drosophila) homolog, "chromosome 14 open reading frame 41"
Location	14q24.3
Position	chr14:73275107-73463642, -1
External Links	HGNC: 8060 Entrez Gene: 8650 Ensembl: ENSG00000133961 UCSC: uc001xny.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
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
Goes, F. S.,2012	SNP: rs2333194	OR = 0.83,P-value(Meta) = 0.000000703 Suggestive association was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 24)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045296	cadherin binding	molecular function	IEA	7
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005634	nucleus	cellular component	IEA	283
GO:0005887	integral component of plasma membrane	cellular component	TAS[7596406]	158
GO:0007411	axon guidance	biological process	TAS	60

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045294	alpha-catenin binding	molecular function	IEA	3
GO:0021849	neuroblast division in subventricular zone	biological process	ISS	1
GO:0016323	basolateral plasma membrane	cellular component	IEA	21
GO:0005769	early endosome	cellular component	IEA	13
GO:0034332	adherens junction organization	biological process	IEA	6
GO:0008013	beta-catenin binding	molecular function	IEA	14
GO:0005515	protein binding	molecular function	IPI[17203073]	563
GO:0045177	apical part of cell	cellular component	IEA	13
GO:0019897	extrinsic component of plasma membrane	cellular component	IEA	2
GO:0007219	Notch signaling pathway	biological process	TAS	14
GO:0021670	lateral ventricle development	biological process	ISS	2
GO:0030335	positive regulation of cell migration	biological process	IGI[19581412]; IMP[19581412]	16
GO:0030136	clathrin-coated vesicle	cellular component	IDA[19581412]	9
GO:0045746	negative regulation of Notch signaling pathway	biological process	IEA	1
GO:0050769	positive regulation of neurogenesis	biological process	ISS	2
GO:0030862	positive regulation of polarized epithelial cell differentiation	biological process	IEA	1
GO:0060487	lung epithelial cell differentiation	biological process	IEA	1
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:1903077	negative regulation of protein localization to plasma membrane	biological process	IMP[19581412]	2

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04330	Notch signaling pathway	7

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 21)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NUMB	PRKCA	NO	in vitro	17203073
NUMB	AP2A2	NO	in vivo	17203073
NUMB	PRKCE	YES	in vitro	17203073
NUMB	DPYSL2	YES	in vitro;in vivo	12942088 , 11121447
NUMB	EPS15	NO	in vitro;in vivo	9303539
NUMB	ITGB3	NO	in vitro	12606711
NUMB	AP2A1	NO	in vivo	12942088
NUMB	PRKCB	NO	in vitro	17203073
NUMB	PRKCD	NO	in vitro	17203073
NUMB	LNX2	NO	in vitro;in vivo;yeast 2-hybrid	11922143 , 11782429
NUMB	MDM2	NO	in vitro;yeast 2-hybrid	12646252 , 9632782
NUMB	ITGB2	YES	in vitro	12606711
NUMB	ITGB5	NO	in vitro	12606711
NUMB	APP	NO	in vitro;in vivo	12011466
NUMB	PRKCH	NO	in vitro	17203073
NUMB	NOTCH1	NO	in vitro;in vivo	12682059 , 8755477
NUMB	LNX1	YES	in vitro;in vivo;yeast 2-hybrid	11782429 , 9535908
NUMB	PRKCG	NO	in vitro	17203073
NUMB	L1CAM	NO	in vivo	12942088
NUMB	ITCH	YES	in vitro;in vivo	12682059
NUMB	SIAH1	NO	in vitro;in vivo;yeast 2-hybrid	11752454

Related other genetic factors

Gene related SNPs (count: 27)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2333194	chr14:73300506 - 73300506(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 26)

rs_ID	Location	Functional Annotation
rs12435797	chr14:73330961 - 73330961(1)	intron_variant; non_coding_transcript_variant
rs12586996	chr14:73342516 - 73342516(1)	intron_variant; non_coding_transcript_variant
rs10137332	chr14:73316246 - 73316246(1)	intron_variant; non_coding_transcript_variant
rs17126867	chr14:73324563 - 73324563(1)	intron_variant; non_coding_transcript_variant
rs10483853	chr14:73289591 - 73289591(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10141031	chr14:73306901 - 73306901(1)	intron_variant; non_coding_transcript_variant
rs17182286	chr14:73282200 - 73282200(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs17126584	chr14:73288038 - 73288038(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10220356	chr14:73342768 - 73342768(1)	intron_variant; non_coding_transcript_variant
rs8013402	chr14:73281790 - 73281790(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7140876	chr14:73326230 - 73326230(1)	intron_variant; non_coding_transcript_variant
rs7159794	chr14:73337735 - 73337735(1)	intron_variant; non_coding_transcript_variant
rs11624521	chr14:73294124 - 73294124(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs10162414	chr14:73296524 - 73296524(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs177377	chr14:73286811 - 73286811(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs10135560	chr14:73422717 - 73422717(1)	intron_variant; non_coding_transcript_variant
rs881035	chr14:73402685 - 73402685(1)	intron_variant; non_coding_transcript_variant
rs11159014	chr14:73363814 - 73363814(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs8017087	chr14:73361584 - 73361584(1)	intron_variant; non_coding_transcript_variant
rs10220341	chr14:73317727 - 73317727(1)	intron_variant; non_coding_transcript_variant
rs10135747	chr14:73422744 - 73422744(1)	intron_variant; non_coding_transcript_variant
rs7140324	chr14:73420982 - 73420982(1)	intron_variant; non_coding_transcript_variant
rs12589279	chr14:73386429 - 73386429(1)	intron_variant; non_coding_transcript_variant
rs8009393	chr14:73372872 - 73372872(1)	intron_variant; non_coding_transcript_variant
rs10136726	chr14:73345517 - 73345517(1)	intron_variant; non_coding_transcript_variant
rs10142258	chr14:73343509 - 73343509(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q24	chr14:67400000-78800000	1 (0/0/1)
14q24.1-q32.12	chr14:67400000-94200000	1 (0/0/1)
14q22-24	chr14:50400000-78800000	1 (0/0/1)
Chr 14	chr14:0-107043718	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr14:73275107..73463642 View in gBrowse