Details for: F12

Gene ID: 2161

Symbol: F12

Ensembl ID: ENSG00000131187

Description: coagulation factor XII

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are 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: 14,387
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.09
    Marker Score: 4,318
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.93
    Marker Score: 8,333
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.91
    Marker Score: 12,271
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.63
    Marker Score: 5,339
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.47
    Marker Score: 2,987
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.27
    Marker Score: 2,415
  • 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: 1,255
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.1
    Marker Score: 8,592
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16,316
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.02
    Marker Score: 8,824
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • 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: 2,412
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.93
    Marker Score: 633
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,241
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,736
  • 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: 5,296
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,258
  • 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: 4,803
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 457
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.71
    Marker Score: 3,397
  • 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: 2,883
  • 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: 1,588
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 442
  • 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: 5,192
  • 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: 288
  • 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: 280
  • 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: 316
  • 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: 1,066
  • 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: 2,131
  • 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: 591
  • 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: 1,916
  • 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

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Coagulation factor XII is a zymogen that is activated by contact activation, a process triggered by the binding of negatively charged surfaces, such as collagen, and the presence of negatively charged ions, like calcium. Once activated, F12 initiates a cascade of reactions that ultimately lead to the formation of fibrin clots. The F12 protein exhibits a unique ability to form a complex with the protein C inhibitor, which regulates the activity of protein C, a critical regulator of coagulation and fibrinolysis. **Pathways and Functions:** F12 is integral to the intrinsic pathway of blood coagulation, which is triggered by the contact of blood with negatively charged surfaces. This pathway involves the activation of factor XII, which in turn activates factor XI, leading to the activation of factor IX and ultimately the formation of thrombin and fibrin. F12 also plays a role in the regulation of fibrinolysis, as it interacts with the protein C inhibitor to modulate the activity of protein C. Furthermore, F12 is involved in the activation of the contact activation system (CAS) and the kallikrein-kinin system (KKS), which are critical components of the innate immune response. The F12 protein also exhibits serine-type endopeptidase activity, which allows it to process and activate other proteins. **Clinical Significance:** Dysregulation of F12 has been implicated in various pathological conditions, including hereditary angioedema, a disorder characterized by recurrent episodes of severe edema. Defects in the F12 gene or the serping1 gene, which encodes a binding protein for F12, have been identified as the primary causes of hereditary angioedema. Additionally, alterations in F12 expression have been linked to various cardiovascular and autoimmune diseases, highlighting the protein's potential as a therapeutic target. **Implications for Immunology:** The study of F12 has significant implications for our understanding of the immune response and the regulation of coagulation and fibrinolysis. The protein's involvement in the activation of the CAS and KKS highlights its role in the innate immune response, while its interaction with the protein C inhibitor suggests a complex regulatory mechanism that modulates coagulation and fibrinolysis. Further research is needed to fully elucidate the mechanisms by which F12 regulates these processes and to explore its potential as a therapeutic target for various diseases. **Conclusion:** In conclusion, coagulation factor XII is a multifaceted protein that plays a critical role in the regulation of coagulation, fibrinolysis, and the immune response. Its dysregulation has been implicated in various pathological conditions, highlighting the need for further research into the mechanisms by which F12 regulates these processes. As our understanding of F12 continues to evolve, it is likely that this protein will emerge as a key player in the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 856038412

Symbol: FA12_HUMAN

Name: Coagulation factor XII

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.