Skip to content
Use your HSA or FSA funds

Gene

F12

coagulation factor XII

Summary

Cytogenetic location
5q35.3
Coordinates
Chromosome 5: 177,402,141–177,409,564 (GRCh38)
Exons
14 exons across 7.4 kb
Protein
615 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000253496.4NM_000505.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Angioedema

    • Autosomal dominant

      Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      On-demand therapy: C1-INH concentrate, icatibant (B2 receptor antagonist), or ecallantide; prophylaxis: lanadelumab, garadacumab, C1-INH concentrate; avoidance of estrogen-containing medications in type 3

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How F12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where F12 sits. F12 and 21 genes near it on chromosome 5, from 176,905,853 to 177,905,852.Chromosome 55q35.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3177 Mb177.2 Mb177.4 Mb177.6 Mb177.8 MbUIMC1: 176,902,225–177,022,646, reverse strandUIMC1ZNF346: 177,022,059–177,081,202, forward strandZNF346FGFR4: 177,086,456–177,098,156, forward strandFGFR4NSD1: 177,131,787–177,300,213, forward strandNSD1RAB24: 177,301,198–177,303,766, reverse strandRAB24MXD3: 177,301,461–177,312,757, reverse strandMXD3PRELID1: 177,303,787–177,306,958, forward strandPRELID1LMAN2: 177,315,805–177,351,840, reverse strandLMAN2RGS14: 177,357,654–177,374,390, forward strandRGS14SLC34A1: 177,379,235–177,398,848, forward strandSLC34A1PFN3: 177,400,109–177,400,661, reverse strandPFN3F12: 177,402,141–177,409,564, reverse strandF12GRK6: 177,403,204–177,442,901, forward strandGRK6PRR7: 177,446,445–177,456,291, forward strandPRR7DBN1: 177,456,225–177,474,401, reverse strandDBN1PDLIM7: 177,482,838–177,497,664, reverse strandPDLIM7DOK3: 177,501,888–177,511,274, reverse strandDOK3DDX41: 177,511,569–177,516,979, reverse strandDDX41FAM193B: 177,519,788–177,554,601, reverse strandFAM193BTMED9: 177,592,174–177,597,242, forward strandTMED9B4GALT7: 177,600,081–177,611,056, forward strandB4GALT7FAM153A: 177,707,981–177,784,435, reverse strandFAM153ADiagram of F12: 14 exons on the reverse strand of chromosome 5Exon 13: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 14: 177,402,141–177,402,459, 319 basesExon 13: 177,402,550–177,402,698, 149 basesExon 12: 177,403,254–177,403,397, 144 basesExon 11: 177,403,481–177,403,617, 137 basesExon 10: 177,403,859–177,404,090, 232 basesExon 9: 177,404,196–177,404,413, 218 basesExon 8: 177,404,499–177,404,664, 166 basesExon 7: 177,404,810–177,404,914, 105 basesExon 6: 177,405,054–177,405,185, 132 basesExon 5: 177,405,323–177,405,433, 111 basesExon 4: 177,405,735–177,405,805, 71 basesExon 3: 177,405,962–177,406,061, 100 basesExon 2: 177,409,046–177,409,103, 58 basesExon 1: 177,409,471–177,409,564, 94 bases14131211109876543215′3′

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 kb of the gene's 7.4 kb; 1,848 of those bases code for the protein.

How a genome test reads F12

13

positions in F12 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 7.4 kb of F12, introns included, not only the 2 kb of exons.

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.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • 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

APA

Dante Labs. (n.d.). F12 gene: coagulation factor XII. Retrieved 16 October 2026, from https://dantelabs.com/genes/f12

Vancouver

Dante Labs. F12 gene: coagulation factor XII [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/f12

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test