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

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