• Gene id: 2161

Gene Summary

• Gene Symbol: F12   Gene   UCSC   Ensembl
• Aliases: HAE3, HAEX, HAF
• Gene name: coagulation factor XII
• Alternate names: coagulation factor XII, Hageman factor, beta-factor XIIa part 1, beta-factor XIIa part 2, coagulation factor XIIa heavy chain, coagulation factor XIIa light chain,
• Gene location: 5q35.3 (177409563: 177402137)     Exons: 15     NC_000005.10
• Gene summary(Entrez): This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type
• OMIM: 610619

Protein Summary

• Protein general information: P00748  
  • Name: Coagulation factor XII (EC 3.4.21.38) (Hageman factor) (HAF) [Cleaved into: Coagulation factor XIIa heavy chain; Beta factor XIIa part 1; Coagulation factor XIIa light chain (Beta factor XIIa part 2)]
  • Length: 615  
  • Mass: 67792
• Sequence:

  MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCAT
  TPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIW
  YRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSY
  RGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQ
  AAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVG
  GLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLH
  EAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVP
  FLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYT
  DVAYYLAWIREHTVS

• Structural information:
  • Protein Domains: (42..9-)
    (/note="Fibronectin-type-II)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00478,-ECO:0000255|PROSITE-ProRule:PRU00479)
    (94..13-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (133..17-)
    (/note="Fibronec-)
  • Interpro: IPR014394  IPR001881  IPR013032  IPR000742  IPR000083   IPR000562  IPR036943  IPR000001  IPR013806  IPR018056  IPR038178  IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS00022 PS01186 PS50026 PS01253 PS51091 PS00023 PS51092 PS00021 PS50070 PS50240 PS00134 PS00135
  • CDD: cd00061 cd00062 cd00108 cd00190
  • PDB: 4BDW 4BDX 4XDE 4XE4 6B74 6B77 6GT6 6QF7
  • PDBsum: 4BDW 4BDX 4XDE 4XE4 6B74 6B77 6GT6 6QF7
  • STRING: ENSP00000253496
• Other Databases: GeneCards:  F12  Malacards:  F12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007596	blood coagulation	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0005791	rough endoplasmic reticulum	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0031638	zymogen activation	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007596	blood coagulation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0042730	fibrinolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0007596	blood coagulation	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0051787	misfolded protein binding	IC	molecular function
GO:0002353	plasma kallikrein-kinin cascade	IDA	biological process
GO:0002353	plasma kallikrein-kinin cascade	IDA	biological process
GO:0002542	Factor XII activation	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0010756	positive regulation of plasminogen activation	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0016540	protein autoprocessing	IDA	biological process
GO:0051788	response to misfolded protein	IDA	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	IC	biological process
GO:0030194	positive regulation of blood coagulation	IDA	biological process
GO:0031638	zymogen activation	IDA	biological process
GO:0031638	zymogen activation	IDA	biological process
GO:0031638	zymogen activation	IDA	biological process
GO:0051919	positive regulation of fibrinolysis	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Hereditary angioedema	KEGG:H01006
Factor XII deficiency	KEGG:H00941
Hereditary angioedema	KEGG:H01006
Factor XII deficiency	KEGG:H00941
Hereditary angioedema	PMID:9129025
Angioedema	PMID:16638441
Factor XII deficiency	PMID:20386432
Transient cerebral ischemia	PMID:16533887
Cerebral infarction	PMID:16533887
Myocardial infarction	PMID:16411408
type 2 diabetes mellitus	PMID:7974333
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq