ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	PAFAH1B1
Previous Symbol	MDCR, MDS
Symbol Alias	LIS1, PAFAH
Approved Name	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Previous Name	###############################################################################################################################################################################################################################################################
Location	17p13.3
Position	chr17:2496923-2588909, +
External Links	HGNC: 8574 Entrez Gene: 5048 Ensembl: ENSG00000007168 UCSC: uc002fuw.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 70)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000226	microtubule cytoskeleton organization	Biological Process	ISS[10729324]	39

GO terms by database search (count: 69)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051660	establishment of centrosome localization	Biological Process		1
GO:0051081	nuclear envelope disassembly	Biological Process		1
GO:0051219	phosphoprotein binding	Molecular Function		4
GO:0048854	brain morphogenesis	Biological Process	IMP[9063735]	3
GO:0050885	neuromuscular process controlling balance	Biological Process	IMP[9063735]	8
GO:0047496	vesicle transport along microtubule	Biological Process	ISS[10729324]	2
GO:0048471	perinuclear region of cytoplasm	Cellular Component		87
GO:0046329	negative regulation of JNK cascade	Biological Process		6
GO:0046469	platelet activating factor metabolic process	Biological Process	ISS[8028668]	1
GO:0045773	positive regulation of axon extension	Biological Process		7
GO:0045931	positive regulation of mitotic cell cycle	Biological Process		5
GO:0045502	dynein binding	Molecular Function	IDA[11889140]	6
GO:0045505	dynein intermediate chain binding	Molecular Function		1
GO:0042803	protein homodimerization activity	Molecular Function		113
GO:0036035	osteoclast development	Biological Process		1
GO:0043274	phospholipase binding	Molecular Function	ISS[8028668]	3
GO:0043025	neuronal cell body	Cellular Component		51
GO:0032403	protein complex binding	Molecular Function		27
GO:0032319	regulation of Rho GTPase activity	Biological Process	ISS[10729324]	1
GO:0034452	dynactin binding	Molecular Function	ISS[11056532]	1
GO:0033267	axon part	Cellular Component		2
GO:0031513	nonmotile primary cilium	Cellular Component		2
GO:0031512	motile primary cilium	Cellular Component		4
GO:0031982	vesicle	Cellular Component		6
GO:0031965	nuclear membrane	Cellular Component		27
GO:0030426	growth cone	Cellular Component		20
GO:0030036	actin cytoskeleton organization	Biological Process	ISS[10729324]	21
GO:0031252	cell leading edge	Cellular Component		4
GO:0031023	microtubule organizing center organization	Biological Process	IMP[11163258]	3
GO:0021766	hippocampus development	Biological Process		7
GO:0021819	layer formation in cerebral cortex	Biological Process		2
GO:0021895	cerebral cortex neuron differentiation	Biological Process		1
GO:0021987	cerebral cortex development	Biological Process	IMP[9063735]	11
GO:0016042	lipid catabolic process	Biological Process		32
GO:0017145	stem cell division	Biological Process		1
GO:0019226	transmission of nerve impulse	Biological Process	ISS[10729324]	3
GO:0021540	corpus callosum morphogenesis	Biological Process	IMP[9063735]	2
GO:0008201	heparin binding	Molecular Function	ISS[8028668]	26
GO:0008344	adult locomotory behavior	Biological Process	IMP[9063735]	12
GO:0009306	protein secretion	Biological Process		2
GO:0010977	negative regulation of neuron projection development	Biological Process		4
GO:0007405	neuroblast proliferation	Biological Process	ISS[10729324]	2
GO:0007611	learning or memory	Biological Process		6
GO:0008017	microtubule binding	Molecular Function	ISS[10729324]	32
GO:0008090	retrograde axon cargo transport	Biological Process	ISS[10729324]	1
GO:0001961	positive regulation of cytokine-mediated signaling pathway	Biological Process		1
GO:0005515	protein binding	Molecular Function		910
GO:0001675	acrosome assembly	Biological Process		3
GO:0001764	neuron migration	Biological Process	IMP[11163258]; ISS[10729324]	21
GO:0005730	nucleolus	Cellular Component		243
GO:0005737	cytoplasm	Cellular Component		690
GO:0005634	nucleus	Cellular Component		770
GO:0005635	nuclear envelope	Cellular Component	IDA[11940666]	19
GO:0005871	kinesin complex	Cellular Component		5
GO:0005875	microtubule associated complex	Cellular Component	IDA[11889140]	13
GO:0005813	centrosome	Cellular Component		71
GO:0005829	cytosol	Cellular Component	ISS[8028668]	447
GO:0007097	nuclear migration	Biological Process		1
GO:0007268	synaptic transmission	Biological Process	ISS[10729324]	96
GO:0005938	cell cortex	Cellular Component	IDA[11940666]	26
GO:0007017	microtubule-based process	Biological Process	IDA[11940666]	4
GO:0000086	G2/M transition of mitotic cell cycle	Biological Process		29
GO:0000235	astral microtubule	Cellular Component	IDA[11940666]	1
GO:0000132	establishment of mitotic spindle orientation	Biological Process	IMP[11056532]	7
GO:0000087	M phase of mitotic cell cycle	Biological Process		19
GO:0001667	ameboidal cell migration	Biological Process		3
GO:0000776	kinetochore	Cellular Component	IDA[11940666]	15
GO:0000278	mitotic cell cycle	Biological Process		63
GO:0000236	mitotic prometaphase	Biological Process		17

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00565	Ether lipid metabolism	15

Genes shared at least 5 GO terms with PAFAH1B1 (count: 114)

Gene Symbol	Pathway Count	Pathway List
NDE1	14	vesicle transport along microtubule; cerebral cortex development; neuroblast proliferation; microtubule binding; protein binding; neuron migration; centrosome; cytosol; G2/M transition of mitotic cell cycle; establishment of mitotic spindle orientation; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
SNCA	12	phosphoprotein binding; perinuclear region of cytoplasm; dynein binding; phospholipase binding; growth cone; adult locomotory behavior; microtubule binding; protein binding; cytoplasm; nucleus; cytosol; cell cortex;
CLASP1	12	microtubule organizing center organization; microtubule binding; protein binding; centrosome; cytosol; cell cortex; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
CDK5RAP2	11	perinuclear region of cytoplasm; protein complex binding; microtubule binding; protein binding; cytoplasm; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; establishment of mitotic spindle orientation; mitotic cell cycle;
GSK3B	10	perinuclear region of cytoplasm; neuronal cell body; growth cone; hippocampus development; protein binding; nucleolus; cytoplasm; nucleus; centrosome; cytosol;
CEP57	10	protein homodimerization activity; microtubule binding; protein binding; nucleolus; cytoplasm; nucleus; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
PLK1	10	microtubule binding; protein binding; nucleus; centrosome; cytosol; G2/M transition of mitotic cell cycle; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
CLASP2	9	microtubule organizing center organization; protein binding; cytoplasm; cytosol; cell cortex; microtubule cytoskeleton organization; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase;
KIF23	9	microtubule binding; protein binding; nucleus; kinesin complex; centrosome; cytosol; microtubule cytoskeleton organization; M phase of mitotic cell cycle; mitotic cell cycle;
KIF2C	9	protein binding; nucleus; kinesin complex; cytosol; microtubule cytoskeleton organization; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
MAPRE1	9	protein binding; cytoplasm; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase;
SMC1A	9	protein binding; nucleolus; cytoplasm; nucleus; microtubule cytoskeleton organization; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
XPO1	9	protein binding; nucleolus; cytoplasm; nuclear envelope; cytosol; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
MAP1S	8	perinuclear region of cytoplasm; neuronal cell body; microtubule binding; protein binding; nucleus; microtubule associated complex; cytosol; microtubule cytoskeleton organization;
MAPT	8	positive regulation of axon extension; growth cone; microtubule binding; protein binding; neuron migration; microtubule associated complex; cytosol; microtubule cytoskeleton organization;
SMC3	8	dynein binding; protein binding; cytoplasm; nucleus; microtubule cytoskeleton organization; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase;
APC	8	microtubule binding; protein binding; cytoplasm; nucleus; centrosome; cytosol; microtubule cytoskeleton organization; kinetochore;
CEP164	8	protein binding; nucleolus; cytoplasm; nucleus; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
CKAP5	8	protein binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase;
NUMA1	8	protein binding; nucleolus; cytoplasm; nucleus; cytosol; G2/M transition of mitotic cell cycle; establishment of mitotic spindle orientation; mitotic cell cycle;
TUBGCP2	8	protein binding; nucleolus; nucleus; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; mitotic cell cycle;
ZW10	8	protein binding; nucleus; cytosol; establishment of mitotic spindle orientation; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
DCTN3	7	perinuclear region of cytoplasm; protein binding; centrosome; cytosol; microtubule-based process; G2/M transition of mitotic cell cycle; mitotic cell cycle;
KATNB1	7	dynein binding; neuronal cell body; growth cone; microtubule binding; cytoplasm; centrosome; microtubule cytoskeleton organization;
MAPK1	7	axon part; protein binding; nucleolus; cytoplasm; nucleus; cytosol; synaptic transmission;
TSC1	7	growth cone; hippocampus development; cerebral cortex development; protein binding; cytoplasm; cytosol; cell cortex;
TUBG1	7	protein binding; cytoplasm; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; mitotic cell cycle;
CENPC1	7	cytoplasm; nucleus; cytosol; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
CEP250	6	perinuclear region of cytoplasm; protein binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
KAT5	6	perinuclear region of cytoplasm; protein complex binding; protein binding; nucleolus; nucleus; cytosol;
MALT1	6	perinuclear region of cytoplasm; protein binding; nucleolus; cytoplasm; nucleus; cytosol;
NF2	6	perinuclear region of cytoplasm; actin cytoskeleton organization; protein binding; nucleolus; cytoplasm; nucleus;
PDE2A	6	perinuclear region of cytoplasm; protein homodimerization activity; protein binding; cytoplasm; nucleus; cytosol;
PRKAR2B	6	perinuclear region of cytoplasm; cytoplasm; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
PSMC3	6	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; cytosol; mitotic cell cycle;
TPPP	6	perinuclear region of cytoplasm; microtubule binding; protein binding; cytoplasm; nucleus; microtubule cytoskeleton organization;
USP2	6	perinuclear region of cytoplasm; positive regulation of mitotic cell cycle; protein binding; nucleus; centrosome; cell cortex;
MEN1	6	negative regulation of JNK cascade; protein binding; nucleolus; cytoplasm; nucleus; cytosol;
CRYAB	6	protein homodimerization activity; microtubule binding; protein binding; cytoplasm; nucleus; cytosol;
DAXX	6	protein homodimerization activity; protein binding; nucleolus; cytoplasm; nucleus; cytosol;
NTRK2	6	protein homodimerization activity; neuronal cell body; growth cone; cerebral cortex development; neuron migration; cytosol;
RNF40	6	protein homodimerization activity; protein complex binding; protein binding; nucleolus; cytoplasm; nucleus;
TFAP2A	6	protein homodimerization activity; protein binding; nucleolus; cytoplasm; nucleus; centrosome;
ARHGEF2	6	neuronal cell body; microtubule binding; protein binding; cytosol; microtubule cytoskeleton organization; establishment of mitotic spindle orientation;
RCC1	6	nuclear membrane; protein binding; nucleolus; cytoplasm; nucleus; microtubule cytoskeleton organization;
PRC1	6	microtubule binding; protein binding; nucleolus; cytoplasm; nucleus; microtubule cytoskeleton organization;
TUBGCP5	6	microtubule binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; mitotic cell cycle;
TUBGCP6	6	microtubule binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; mitotic cell cycle;
UXT	6	microtubule binding; protein binding; cytoplasm; nucleus; centrosome; microtubule cytoskeleton organization;
CENPJ	6	protein binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; mitotic cell cycle;
GPSM2	6	protein binding; nucleolus; cytoplasm; nucleus; cell cortex; establishment of mitotic spindle orientation;
INCENP	6	protein binding; cytosol; M phase of mitotic cell cycle; kinetochore; mitotic cell cycle; mitotic prometaphase;
RFWD2	6	protein binding; nucleolus; cytoplasm; nucleus; centrosome; cytosol;
ACHE	5	perinuclear region of cytoplasm; protein homodimerization activity; protein binding; nucleus; synaptic transmission;
ATXN2	5	perinuclear region of cytoplasm; protein binding; nucleolus; cytoplasm; nucleus;
BSPRY	5	perinuclear region of cytoplasm; cell leading edge; nucleolus; cytoplasm; nucleus;
HERC5	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; cytosol;
KLHL20	5	perinuclear region of cytoplasm; protein binding; nucleolus; cytoplasm; nucleus;
PARK2	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; cytosol;
SNAP25	5	perinuclear region of cytoplasm; growth cone; protein binding; cytoplasm; synaptic transmission;
TPD52L1	5	perinuclear region of cytoplasm; protein homodimerization activity; protein binding; cytoplasm; G2/M transition of mitotic cell cycle;
ILK	5	positive regulation of axon extension; neuronal cell body; protein binding; cytoplasm; cytosol;
CDC25B	5	positive regulation of mitotic cell cycle; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
BNIP3	5	protein homodimerization activity; protein binding; cytoplasm; nucleus; nuclear envelope;
CORO1A	5	protein homodimerization activity; actin cytoskeleton organization; protein binding; cytoplasm; nucleus;
MAP3K11	5	protein homodimerization activity; protein binding; cytoplasm; centrosome; microtubule-based process;
MTMR2	5	protein homodimerization activity; protein binding; cytoplasm; nucleus; cytosol;
PAFAH1B2	5	protein homodimerization activity; lipid catabolic process; nucleolus; cytoplasm; cytosol;
PYCARD	5	protein homodimerization activity; protein binding; cytoplasm; nucleus; cytosol;
RCHY1	5	protein homodimerization activity; protein binding; nucleolus; cytoplasm; nucleus;
TRIM5	5	protein homodimerization activity; protein binding; nucleolus; cytoplasm; nucleus;
SLC6A3	5	neuronal cell body; protein complex binding; protein binding; cytoplasm; synaptic transmission;
STRN3	5	neuronal cell body; protein complex binding; protein binding; cytoplasm; nucleus;
ARRB2	5	protein complex binding; protein binding; cytoplasm; nucleus; cytosol;
CCND1	5	protein complex binding; protein binding; nucleus; cytosol; mitotic cell cycle;
RELA	5	protein complex binding; protein binding; cytoplasm; nucleus; cytosol;
PAK1	5	nuclear membrane; growth cone; protein binding; cytoplasm; cytosol;
APBB1	5	growth cone; protein binding; neuron migration; cytoplasm; nucleus;
PRKG1	5	actin cytoskeleton organization; protein binding; neuron migration; cytoplasm; cytosol;
ROCK2	5	actin cytoskeleton organization; protein binding; nucleus; centrosome; cytosol;
TH	5	cerebral cortex development; protein binding; cytoplasm; nucleus; cytosol;
ATXN1	5	adult locomotory behavior; protein binding; nucleolus; cytoplasm; nucleus;
NR4A2	5	adult locomotory behavior; protein binding; neuron migration; cytoplasm; nucleus;
HOOK3	5	microtubule binding; protein binding; cytoplasm; centrosome; microtubule cytoskeleton organization;
KIF11	5	microtubule binding; cytoplasm; kinesin complex; cytosol; microtubule cytoskeleton organization;
NUSAP1	5	microtubule binding; nucleolus; cytoplasm; nucleus; microtubule cytoskeleton organization;
AATF	5	protein binding; nucleolus; cytoplasm; nucleus; centrosome;
AIP	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
ALKBH8	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
BAIAP2	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
CDC45	5	protein binding; cytoplasm; nucleus; centrosome; mitotic cell cycle;
CEP76	5	protein binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
CHEK1	5	protein binding; nucleus; centrosome; cytosol; G2/M transition of mitotic cell cycle;
CNTRL	5	protein binding; centrosome; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
CSNK1E	5	protein binding; nucleus; cytosol; G2/M transition of mitotic cell cycle; mitotic cell cycle;
DCPS	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
DHX9	5	protein binding; nucleolus; cytoplasm; nucleus; centrosome;
FLII	5	protein binding; nucleolus; cytoplasm; nucleus; centrosome;
HSPA8	5	protein binding; nucleolus; nucleus; cytosol; synaptic transmission;
IARS	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
ID2	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
MPHOSPH6	5	protein binding; nucleolus; cytoplasm; nucleus; M phase of mitotic cell cycle;
PDCD4	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
PPP1CA	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
PPP4C	5	protein binding; cytoplasm; nucleus; centrosome; microtubule cytoskeleton organization;
PRKCB	5	protein binding; cytoplasm; nucleus; cytosol; synaptic transmission;
PRKD1	5	protein binding; cytoplasm; nucleus; cytosol; cell cortex;
PTTG1	5	protein binding; cytoplasm; nucleus; cytosol; mitotic cell cycle;
SART1	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
STXBP3	5	protein binding; nucleolus; cytoplasm; nucleus; cytosol;
TNFAIP3	5	protein binding; cytoplasm; nucleus; centrosome; cytosol;
CENPV	5	nucleolus; cytoplasm; nucleus; ameboidal cell migration; kinetochore;
KIF22	5	cytoplasm; nucleus; microtubule associated complex; cytosol; kinetochore;
CENPL	5	nucleus; cytosol; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase;

Genes shared at least 2 KEGG pathways with PAFAH1B1 (count: 14)

Gene Symbol	Pathway Count	Pathway List
LPCAT1	2	Metabolic pathways; Ether lipid metabolism;
LPCAT4	2	Metabolic pathways; Ether lipid metabolism;
PAFAH1B2	2	Metabolic pathways; Ether lipid metabolism;
PLA2G10	2	Metabolic pathways; Ether lipid metabolism;
PLA2G1B	2	Metabolic pathways; Ether lipid metabolism;
PLA2G2A	2	Metabolic pathways; Ether lipid metabolism;
PLA2G2D	2	Metabolic pathways; Ether lipid metabolism;
PLA2G2E	2	Metabolic pathways; Ether lipid metabolism;
PLA2G3	2	Metabolic pathways; Ether lipid metabolism;
PLA2G4B	2	Metabolic pathways; Ether lipid metabolism;
PLA2G5	2	Metabolic pathways; Ether lipid metabolism;
PLA2G6	2	Metabolic pathways; Ether lipid metabolism;
PLD1	2	Metabolic pathways; Ether lipid metabolism;
PLD2	2	Metabolic pathways; Ether lipid metabolism;

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Region: chr17:2496923..2588909 View in gBrowse