Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3053
Gene name Gene Name - the full gene name approved by the HGNC.	Serpin family D member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SERPIND1
Synonyms (NCBI Gene) Gene synonyms aliases	D22S673, HC2, HCF2, HCII, HLS2, LS2, THPH10
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HLS2, THPH10
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that intera

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018769	hsa-miR-335-5p	Microarray	18185580
MIRT2325041	hsa-miR-3120-3p	CLIP-seq
MIRT2325042	hsa-miR-4270	CLIP-seq
MIRT2325043	hsa-miR-4441	CLIP-seq
MIRT2325044	hsa-miR-513a-5p	CLIP-seq
MIRT2325045	hsa-miR-556-5p	CLIP-seq
MIRT2325046	hsa-miR-600	CLIP-seq
MIRT2620652	hsa-miR-1236	CLIP-seq
MIRT2620653	hsa-miR-3183	CLIP-seq
MIRT2620654	hsa-miR-4723-3p	CLIP-seq
MIRT2620655	hsa-miR-4778-3p	CLIP-seq
MIRT2620652	hsa-miR-1236	CLIP-seq
MIRT2620653	hsa-miR-3183	CLIP-seq
MIRT2620654	hsa-miR-4723-3p	CLIP-seq
MIRT2620655	hsa-miR-4778-3p	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	2647747
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA	21873635
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006935	Process	Chemotaxis	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0008201	Function	Heparin binding	IEA
GO:0010951	Process	Negative regulation of endopeptidase activity	IBA	21873635
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
142360	4838	ENSG00000099937

Protein

UniProt ID

P05546

Protein name

Heparin cofactor 2 (Heparin cofactor II) (HC-II) (Protease inhibitor leuserpin-2) (HLS2) (Serpin D1)

Protein function

Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glyc

PDB

1JMJ , 1JMO , 2NAT , 2NCU , 2NCV , 2NCW , 6J12 , 6KBO , 6KBV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00079	Serpin	129 → 496	Serpin (serine protease inhibitor)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in liver. Also present in plasma. {ECO:0000269|PubMed:32827448}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in plasma (at protein level) (PubMed:32827448). Expressed in liver (PubMed:32827448). {ECO:0000269|Pub

Sequence

MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFH
KENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTDSDVSAGNILQLFHGK
SRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSI
LHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVNDLYIQKQFPILLDFKTKV
REYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWV
NKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVP
HKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDK
NGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIY
EHRTSCLLFMGRVANPSRS

Sequence length

499

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Heparin cofactor ii deficiency	Heparin cofactor II deficiency (disorder)	rs587777759, rs587777760, rs121912420	11204559, 2647747, 15337701, 10391209
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154 View all (56 more)	2214444

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Heparin cofactor II deficiency	heparin cofactor 2 deficiency			GenCC

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Autism Spectrum Disorder	Associate	37031449
Blood Coagulation Disorders	Associate	34248840
Carcinoma Hepatocellular	Associate	34469466
Carcinoma Squamous Cell	Associate	32596344
COVID 19	Associate	34248840
Diabetes Mellitus Type 2	Associate	34248840
Glioma	Associate	35093128
Ischemic Attack Transient	Associate	29385837

SERPIND1 (serpin family D member 1)