SERPIND1

Chr 22q11.21

serpin family D member 1

Aliases:: HC-II, HLS2, HC2, D22S673
MANE:: ENST00000215727.10

OMIM: 142360 ↗NCBI: 3053 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SERPIND1 · P05546

v62025-08-01

Predicted Aligned Error matrix for SERPIND1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

499 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)11%
Low(50–70)3%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Inherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

heparin cofactor 2 deficiency
0.72
Venous thrombosis
0.67
hemorrhage
0.27
neurodegenerative disease
0.27
thrombotic disease
0.12
ovarian carcinoma
0.08
ovarian cancer
0.08
Varicose veins
0.07
hereditary thrombophilia due to congenital protein C deficiency
0.06
thrombophilia due to thrombin defect
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Heparin cofactor 2

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 glycosaminoglycan-independent manner