Gene
SERPIND1
serpin family D member 1
- HGNC 4838↗(opens in a new tab)
- Ensembl gene ENSG00000099937↗(opens in a new tab)
- NCBI Gene 3053↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q11.21
- Coordinates
- Chromosome 22: 20,774,113–20,787,720 (GRCh38)
- Exons
- 5 exons across 13.6 kb
- Protein
- 499 amino acids
- Also known as
- HC-II, HLS2, HC2, D22S673
- Previous symbols
- HCF2
- MANE Select transcript
- ENST00000215727.10NM_000185.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Thrombophilia
- Inherited Thrombophilia
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Anticoagulation (duration by genotype); avoid estrogen-containing contraceptives; LMWH for pregnancy prophylaxis; extended post-surgical anticoagulation; lifelong anticoagulation for compound/high-risk genotypes
How SERPIND1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 13.6 kb; 1,500 of those bases code for the protein.
Genes linked to the same conditions
- F2coagulation factor II, thrombinShares 1 condition
- F5coagulation factor VShares 1 condition
- F9coagulation factor IXShares 1 condition
- HRGhistidine rich glycoproteinShares 1 condition
- PROCprotein C, inactivator of coagulation factors Va and VIIIaShares 1 condition
- PROS1protein SShares 1 condition
- SERPINC1serpin family C member 1Shares 1 condition
- THBDthrombomodulinShares 1 condition
Traits linked to SERPIND1
The Human Phenotype Ontology lists these as features of the rare conditions SERPIND1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SERPIND1 gene: serpin family D member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/serpind1
Dante Labs. SERPIND1 gene: serpin family D member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/serpind1
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