Details for: F12

Gene ID: 2161

Symbol: F12

Ensembl ID: ENSG00000131187

Description: coagulation factor XII

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.68
    Marker Score: 14387
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.09
    Marker Score: 4317.5
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.93
    Marker Score: 8333
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.91
    Marker Score: 12271
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.63
    Marker Score: 5339
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.47
    Marker Score: 2987
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.27
    Marker Score: 2415
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.27
    Marker Score: 762
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.17
    Marker Score: 1255
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.1
    Marker Score: 8592
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16316
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.02
    Marker Score: 8824
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.93
    Marker Score: 632.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5241
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.91
    Marker Score: 621
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 321
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1258
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 685
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 298
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.72
    Marker Score: 4803
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 457
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.71
    Marker Score: 3397
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.71
    Marker Score: 266
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.69
    Marker Score: 233
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.69
    Marker Score: 777
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.69
    Marker Score: 527
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2883
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.67
    Marker Score: 1588
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 441.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.65
    Marker Score: 311
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.62
    Marker Score: 518
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.61
    Marker Score: 5192
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.57
    Marker Score: 871
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.56
    Marker Score: 210
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.55
    Marker Score: 515
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.55
    Marker Score: 287.5
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.54
    Marker Score: 545
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.52
    Marker Score: 166
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.52
    Marker Score: 143
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.51
    Marker Score: 220
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.46
    Marker Score: 202
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.45
    Marker Score: 110
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.43
    Marker Score: 146
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.43
    Marker Score: 515
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.42
    Marker Score: 736
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.4
    Marker Score: 532
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.38
    Marker Score: 665
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.37
    Marker Score: 886
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.36
    Marker Score: 279.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.35
    Marker Score: 514
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.34
    Marker Score: 336
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.33
    Marker Score: 80
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.32
    Marker Score: 315.5
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.32
    Marker Score: 399
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.32
    Marker Score: 119
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.3
    Marker Score: 306
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.3
    Marker Score: 948
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.3
    Marker Score: 1066
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.29
    Marker Score: 225
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.29
    Marker Score: 456
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.28
    Marker Score: 70
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.27
    Marker Score: 124
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.27
    Marker Score: 268
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.26
    Marker Score: 248
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.26
    Marker Score: 81
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.25
    Marker Score: 90
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.25
    Marker Score: 530
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.25
    Marker Score: 2131
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.25
    Marker Score: 260
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.25
    Marker Score: 71
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.24
    Marker Score: 590.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.23
    Marker Score: 98
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.23
    Marker Score: 63
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.22
    Marker Score: 59
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.22
    Marker Score: 317
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.22
    Marker Score: 129
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.22
    Marker Score: 150
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.21
    Marker Score: 46
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.21
    Marker Score: 65
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.21
    Marker Score: 54
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.19
    Marker Score: 94
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.19
    Marker Score: 439
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.19
    Marker Score: 63
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.19
    Marker Score: 1916
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.18
    Marker Score: 110
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.18
    Marker Score: 197
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.17
    Marker Score: 154

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Other Information

**Key characteristics:** * F12 is a glycoprotein with a molecular weight of approximately 120 kDa. * It is a secreted protein that is produced by hepatocytes and endothelial cells. * It is a key regulator of blood coagulation, as it is involved in the formation of fibrin clots. * It is produced in response to injury or infection and is released into the plasma. **Pathways and functions:** * F12 is produced in response to tissue damage or injury. * It binds to damaged tissue and triggers the activation of factor XIII, which leads to the formation of fibrin clots. * Fibrin clots help to stop bleeding and promote healing. * It also plays a role in inflammation and wound healing. **Clinical significance:** * Mutations in the F12 gene have been linked to several human diseases, including hereditary angioedema, bleeding disorders, and liver disease. * F12 is a potential therapeutic target for these diseases, as it can be used to prevent or treat bleeding episodes. **Additional notes:** * F12 is a highly conserved protein, with similar sequences found in animals. * It is a glycoprotein that is synthesized as a pro-protein and is processed to remove the signal peptide before it is released into the plasma. * It is a key regulator of blood coagulation, and its deficiency can lead to abnormal bleeding and clotting disorders.

Genular Protein ID: 856038412

Symbol: FA12_HUMAN

Name: Coagulation factor XII

UniProtKB Accession Codes:

P00748 P78339

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 5 CPTAC 2 CTD 1 ChEMBL 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 EC 2 EMBL 9 Ensembl 1 GO 22 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 16 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 15 PIR 1 PIRSF 1 PRINTS 3 PRO 1 PROSITE 12 PROSITE-ProRule 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 SAM 1 SIGNOR 1 SMART 6 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 2 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2888762

Title: Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region.

PubMed ID: 2888762

DOI: 10.1016/s0021-9258(19)76478-3

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 3754331

Title: cDNA sequence coding for human coagulation factor XII (Hageman).

PubMed ID: 3754331

DOI: 10.1093/nar/14.7.3146

PubMed ID: 3877053

Title: Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa.

PubMed ID: 3877053

DOI: 10.1016/s0021-9258(17)38776-8

PubMed ID: 3011063

Title: Characterization of a cDNA coding for human factor XII (Hageman factor).

PubMed ID: 3011063

DOI: 10.1021/bi00355a009

PubMed ID: 3886654

Title: Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor).

PubMed ID: 3886654

DOI: 10.1016/s0021-9258(18)89026-3

PubMed ID: 6604055

Title: Amino acid sequence of human beta-factor XIIa.

PubMed ID: 6604055

DOI: 10.1016/s0021-9258(17)44364-x

PubMed ID: 8528215

Title: The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.

PubMed ID: 8528215

DOI: 10.1093/hmg/4.7.1235

PubMed ID: 1544894

Title: O-linked fucose is present in the first epidermal growth factor domain of factor XII but not protein C.

PubMed ID: 1544894

DOI: 10.1016/s0021-9258(18)42736-6

PubMed ID: 14760718

Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.

PubMed ID: 14760718

DOI: 10.1002/pmic.200300556

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 2882793

Title: Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

PubMed ID: 2882793

PubMed ID: 21304106

Title: Histidine-rich glycoprotein binds factor XIIa with high affinity and inhibits contact-initiated coagulation.

PubMed ID: 21304106

DOI: 10.1182/blood-2010-07-290551

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 23385745

Title: The structure of the FnI-EGF-like tandem domain of coagulation factor XII solved using SIRAS.

PubMed ID: 23385745

DOI: 10.1107/s1744309113000286

PubMed ID: 2510163

Title: Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571-->Ser substitution.

PubMed ID: 2510163

DOI: 10.1073/pnas.86.21.8319

PubMed ID: 8049433

Title: Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg-353-->Pro leading to loss of a kallikrein cleavage site.

PubMed ID: 8049433

PubMed ID: 9354665

Title: Mutations in the human factor XII gene.

PubMed ID: 9354665

PubMed ID: 10361128

Title: Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation.

PubMed ID: 10361128

PubMed ID: 11776307

Title: Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency.

PubMed ID: 11776307

PubMed ID: 15205584

Title: Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency.

PubMed ID: 15205584

DOI: 10.1097/01.mbc.0000114447.59147.d1

PubMed ID: 15617741

Title: Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency.

PubMed ID: 15617741

DOI: 10.1016/j.thromres.2004.08.027

PubMed ID: 16638441

Title: Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

PubMed ID: 16638441

DOI: 10.1016/j.bbrc.2006.03.092

PubMed ID: 17186468

Title: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

PubMed ID: 17186468

DOI: 10.1086/509899

Sequence Information:

  • Length: 615
  • Mass: 67792
  • Checksum: F5B861BF635EB480
  • Sequence:
    • MRALLLLGFL LVSLESTLSI PPWEAPKEHK YKAEEHTVVL TVTGEPCHFP FQYHRQLYHK 
CTHKGRPGPQ PWCATTPNFD QDQRWGYCLE PKKVKDHCSK HSPCQKGGTC VNMPSGPHCL 
CPQHLTGNHC QKEKCFEPQL LRFFHKNEIW YRTEQAAVAR CQCKGPDAHC QRLASQACRT 
NPCLHGGRCL EVEGHRLCHC PVGYTGAFCD VDTKASCYDG RGLSYRGLAR TTLSGAPCQP 
WASEATYRNV TAEQARNWGL GGHAFCRNPD NDIRPWCFVL NRDRLSWEYC DLAQCQTPTQ 
AAPPTPVSPR LHVPLMPAQP APPKPQPTTR TPPQSQTPGA LPAKREQPPS LTRNGPLSCG 
QRLRKSLSSM TRVVGGLVAL RGAHPYIAAL YWGHSFCAGS LIAPCWVLTA AHCLQDRPAP 
EDLTVVLGQE RRNHSCEPCQ TLAVRSYRLH EAFSPVSYQH DLALLRLQED ADGSCALLSP 
YVQPVCLPSG AARPSETTLC QVAGWGHQFE GAEEYASFLQ EAQVPFLSLE RCSAPDVHGS 
SILPGMLCAG FLEGGTDACQ GDSGGPLVCE DQAAERRLTL QGIISWGSGC GDRNKPGVYT 
DVAYYLAWIR EHTVS

Genular Protein ID: 1025429362

Symbol: Q8IZZ5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IZZ5

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 5 CTD 1 DNASU 1 EC 1 EMBL 2 GO 4 Gene3D 4 Genevisible 1 GenomeRNAi 1 InterPro 16 KEGG 1 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 3 PROSITE 17 PROSITE-ProRule 3 PeptideAtlas 1 Pfam 5 PharmGKB 1 RefSeq 1 RuleBase 1 SAM 2 SMART 6 SUPFAM 3

Sequence Information:

  • Length: 615
  • Mass: 67735
  • Checksum: 030508870A0C7EDB
  • Sequence:
    • MRALLLLGFL LVSLESTLSI PPWEAPKEHK YKAEEHTVVL TVTGEPCHFP FQYHRQLYHK 
CTHKGRPGPQ PWCATTPNFD QDQRWGYCLE PKKVKDHCSK HSPCQKGGTC VNMPSGPHCL 
CPQHLTGNHC QKEKCFEPQL LRFFHKNEIW YRTEQAAVAR CQCKGPDAHC QRLASQACRT 
NPCLHGGRCL EVEGHRLCHC PVGYTGPFCD VDTKASCYDG RGLSYRGLAR TTLSGAPCQP 
WASEATYRNV TAEQARNWGL GGHAFCRNPD NDIRPWCFVL NRDRLSWEYC DLAQCQTPTQ 
AAPPTPVSPR LHVPLMPAQP APPKPQPTTR TPPQSQTPGA LPAKREQPPS LTRNGPLSCG 
QRLRKSLSSM TRVVGGLVAL RGAHPYIAAL YWGHSFCAGS LIAPCWVLTA AHCLQDRPAP 
EDLTVVLGQE RRNHSCEPCQ TLAVRSYRLH EAFSPVSYQH DLALLRLQED ADGSCALLSP 
YVQPVCLPSG AARPSETTLC QVAGCGHQFE GAEEYASFLQ EAQVPFLSLE RCSAPDVHGS 
SILPGMLCAG FLEGGTDACQ GDSGGPLVCE DQAAERRLTL QGIISWGSGC GDRNKPGVYT 
DVAYYLAWIR EHTVS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.