The F2 gene homepage

General information
Gene symbol F2
Gene name coagulation factor II (thrombin)
Chromosome 11
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NG_008953.1
Transcript reference NM_000506.3
Exon/intron information NM_000506.3 exon/intron table
Associated with diseases HYPOPROTHROMBINEMIA, RPRGL, RPRGL2, THPH1, stroke, ischemic, susceptibility to
Citation reference(s) PubMed: McVey et al., 2020
Refseq URL Genomic reference sequence
Curators (1) Daniel J Hampshire
Total number of public variants reported 75
Unique public DNA variants reported 60
Individuals with public variants 70
Hidden variants -
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created May 03, 2013
Date last updated January 11, 2023
Version F2:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000506.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/F2
External URL EAHAD Coagulation Factor Variant Databases
HGNC 3535
Entrez Gene 2147
PubMed articles F2
OMIM - Gene 176930
OMIM - Diseases HYPOPROTHROMBINEMIA (deficiency, prothrombin (hypoprothrombinemia, dysprothrombinaemia))
RPRGL2 (pregnancy loss, recurrent, susceptibility to, type 2 (RPRGL-2))
THPH1 (thrombophilia,due to thrombin defect (THPH1))
stroke, ischemic, susceptibility to
HGMD F2
GeneCards F2
GeneTests F2
Orphanet F2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007333 11 coagulation factor II (thrombin) NM_000506.3 NP_000497.1 75


Copyright & disclaimer
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Mutation Databases are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. All individuals accessing and using the information contained in these mutation databases managed by EAHAD explicitly agree to abide by the database policy.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.