ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SERPIND1
Previous Symbol	HCF2
Symbol Alias	HC-II, HLS2, HC2, D22S673
Approved Name	serpin peptidase inhibitor, clade D (heparin cofactor), member 1
Previous Name	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"
Name Alias	"heparin cofactor II"
Location	22q11.21
Position	chr22:21128167-21142008, 1
External Links	HGNC: 4838 Entrez Gene: 3053 Ensembl: ENSG00000099937 UCSC: uc002ztb.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type
CNV_Jarick[2012]_41	chr22:17616020-19792353 (NCBI36 / hg18)	2176334	22q11.21	dup
CNV_Jarick[2012]_42	chr22:19066315-19792353 (NCBI36 / hg18)	726039	22q11.21	dup
CNV_Jarick[2012]_40	chr22:17257787-19792353 (NCBI36 / hg18)	2534567	22q11.21	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005576	extracellular region	cellular component	NAS[14718574]	267
GO:0010951	negative regulation of endopeptidase activity	biological process	IBA	9
GO:0006935	chemotaxis	biological process	IEA	18
GO:0004866	endopeptidase inhibitor activity	molecular function	TAS[2647747]	4
GO:0007596	blood coagulation	biological process	IEA	85
GO:0008201	heparin binding	molecular function	IEA	28
GO:0004867	serine-type endopeptidase inhibitor activity	molecular function	IBA	14
GO:0030162	regulation of proteolysis	biological process	IBA	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04610	Complement and coagulation cascades	11

Genes shared at least 5 GO terms with SERPIND1 (count: 1)

Gene Symbol	Pathway Count	Pathway List
SERPINC1	6	extracellular region; negative regulation of endopeptidase activity; blood coagulation; heparin binding; serine-type endopeptidase inhibitor activity; regulation of proteolysis;

Genes shared at least 2 KEGG pathways with SERPIND1 (count: 0)

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Region: chr22:21128167..21142008 View in gBrowse