SERPIND1 (serpin family D member 1)

2015-03-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
D22S673,HC2,HCF2,HCII,HLS2,LS2,THPH10

Other Information

Locus ID:

NCBI: 3053
MIM: 142360
HGNC: 4838
Ensembl: ENSG00000099937

Variants:

dbSNP: 3053
ClinVar: 3053
TCGA: ENSG00000099937
COSMIC: SERPIND1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099937ENST00000215727P05546
ENSG00000099937ENST00000406799P05546

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
236567342013Proteolytic activation transforms heparin cofactor II into a host defense molecule.14
229043202012Heparin cofactor II, a serine protease inhibitor, promotes angiogenesis via activation of the AMP-activated protein kinase-endothelial nitric-oxide synthase signaling pathway.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
153377012004Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis.8
155433402004High plasma heparin cofactor II activity protects from restenosis after femoropopliteal stenting.8
274306602016Analysis of the gene expression profile in response to human epididymis protein 4 in epithelial ovarian cancer cells.8
183833702008Beta2-glycoprotein I protects thrombin from inhibition by heparin cofactor II: potentiation of this effect in the presence of anti-beta2-glycoprotein I autoantibodies.7
251307702015Heparin co-factor II enhances cell motility and promotes metastasis in non-small cell lung cancer.7
163394022006Placental dermatan sulfate: isolation, anticoagulant activity, and association with heparin cofactor II.6

Citation

Dessen P

SERPIND1 (serpin family D member 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55122/serpind1