ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PLEKHB1
Previous Symbol	PHRET1
Symbol Alias	PHR1, KPL1
Approved Name	pleckstrin homology domain containing, family B (evectins) member 1
Previous Name	PH domain containing, retinal 1
Location	11q13.5-q14.1
Position	chr11:73357223-73373864, +
External Links	HGNC: 19079 Entrez Gene: 58473 Ensembl: ENSG00000021300 UCSC: uc001ouc.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lesch[2011]_7	chr11:72900000-73400000 (NCBI Build 35 (hg17))	500000	11q13.4	Duplication	Maternal (affected, also in affected sibling)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007275	multicellular organismal development	Biological Process		71
GO:0005737	cytoplasm	Cellular Component		690
GO:0005543	phospholipid binding	Molecular Function		61
GO:0004871	signal transducer activity	Molecular Function	TAS[10585447]	49
GO:0042803	protein homodimerization activity	Molecular Function		113
GO:0016021	integral to membrane	Cellular Component	IDA[10585447]	845
GO:0008022	protein C-terminus binding	Molecular Function		32
GO:0007602	phototransduction	Biological Process	NAS[10585447]	6
GO:0045595	regulation of cell differentiation	Biological Process		6

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with PLEKHB1 (count: 0)

Genes shared at least 2 KEGG pathways with PLEKHB1 (count: 0)

View in gBrowse

Region: chr11:73357223..73373864 View in gBrowse