TFPI (tissue factor pathway inhibitor) - Rat Genome Database

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Gene: TFPI (tissue factor pathway inhibitor) Homo sapiens
Analyze
Symbol: TFPI
Name: tissue factor pathway inhibitor
RGD ID: 1344546
HGNC Page HGNC
Description: Predicted to enable serine-type endopeptidase inhibitor activity. Involved in cellular response to steroid hormone stimulus and negative regulation of blood coagulation. Located in caveola; cell surface; and extracellular space. Implicated in several diseases, including factor VIII deficiency; osteonecrosis; thrombophilia (multiple); toxic shock syndrome; and transient cerebral ischemia. Biomarker of several diseases, including artery disease (multiple); factor V deficiency; idiopathic pulmonary fibrosis; ovarian hyperstimulation syndrome; and thrombophilia (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anti-convertin; EPI; extrinsic pathway inhibitor; LACI; lipoprotein-associated coagulation inhibitor; TFI; TFPI1; tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2187,464,230 - 187,565,760 (-)EnsemblGRCh38hg38GRCh38
GRCh382187,464,230 - 187,554,501 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372188,328,957 - 188,419,162 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362188,037,202 - 188,127,464 (-)NCBINCBI36hg18NCBI36
Build 342188,156,790 - 188,244,556NCBI
Celera2181,925,068 - 182,015,356 (-)NCBI
Cytogenetic Map2q32.1NCBI
HuRef2180,188,532 - 180,278,959 (-)NCBIHuRef
CHM1_12188,334,627 - 188,424,881 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
belinostat  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
busulfan  (EXP)
butan-1-ol  (EXP)
butanal  (EXP)
carbon nanotube  (ISO)
carvedilol  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
clomiphene  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (EXP)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP,ISO)
dimethyl sulfoxide  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
estrone  (EXP)
ethanol  (EXP)
etoposide  (EXP)
fluvastatin  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP,ISO)
geldanamycin  (EXP)
genistein  (EXP,ISO)
glucose  (EXP)
hexestrol  (EXP)
indole-3-methanol  (ISO)
irbesartan  (ISO)
irinotecan  (EXP)
isobutanol  (EXP)
Lasiocarpine  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
mestranol  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PD 0325901  (EXP)
pentanal  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
tamoxifen  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
topotecan  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Bombeli T, etal., Thromb Haemost. 2004 Jan;91(1):80-6.
2. Bregengard C, etal., Blood Coagul Fibrinolysis. 1993 Oct;4(5):699-706.
3. Castoldi E, etal., J Thromb Haemost. 2010 Feb;8(2):294-300. doi: 10.1111/j.1538-7836.2009.03712.x. Epub 2009 Nov 30.
4. Choi G, etal., Eur Respir J. 2007 Sep;30(3):423-8. Epub 2007 May 30.
5. Dahm A, etal., Blood. 2003 Jun 1;101(11):4387-92. Epub 2003 Jan 30.
6. Dai XL, etal., Mol Cells. 2008 Nov 30;26(5):490-5.
7. Duckers C, etal., Blood. 2008 Nov 1;112(9):3615-23. doi: 10.1182/blood-2008-06-162453. Epub 2008 Aug 11.
8. Duering C, etal., Thromb Haemost. 2004 Oct;92(4):707-12.
9. Elsayed YA, etal., Am J Clin Pathol. 1996 Nov;106(5):574-83.
10. Enkhbaatar P, etal., Thromb Haemost. 2001 Dec;86(6):1573-7.
11. Erez O, etal., J Matern Fetal Neonatal Med. 2008 Oct;21(10):732-44. doi: 10.1080/14767050802361807.
12. Ertenli I, etal., Ann Rheum Dis. 2001 Dec;60(12):1149-51.
13. Farid FA, etal., SAJCH. 2011 Dec;5(4):107-111.
14. Fujii M, etal., Thromb Res. 2000 Jul 15;99(2):111-7.
15. GOA_HUMAN data from the GO Consortium
16. Golino P, etal., Circulation. 2003 Dec 9;108(23):2864-9. Epub 2003 Dec 1.
17. Han X, etal., Arterioscler Thromb Vasc Biol. 1999 Oct;19(10):2563-7.
18. Hao J, etal., J Huazhong Univ Sci Technolog Med Sci. 2009 Dec;29(6):697-700. doi: 10.1007/s11596-009-0604-4. Epub 2009 Dec 29.
19. Hara S, etal., Lab Invest. 1997 Dec;77(6):581-9.
20. Hoke M, etal., Thromb Haemost. 2005 Oct;94(4):787-90.
21. Huang ZF, etal., Blood. 1997 Aug 1;90(3):944-51.
22. Iversen N, etal., Thromb Res. 2002 Jan 1;105(1):33-6.
23. Kijiyama N, etal., Biochem Biophys Res Commun. 2006 Jan 27;339(4):1113-9. Epub 2005 Dec 5.
24. Kobayashi M, etal., Thromb Haemost. 1995 Jan;73(1):10-4.
25. Maroney SA, etal., J Thromb Haemost. 2008 Jan;6(1):111-7. Epub 2007 Oct 25.
26. Maroney SA, etal., Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3927-31. doi: 10.1073/pnas.1119858109. Epub 2012 Feb 21.
27. Mochida S, etal., Hepatology. 1999 May;29(5):1532-40.
28. Mukai Y and Sato S, Pregnancy Hypertens. 2012 Jan;2(1):53-8. doi: 10.1016/j.preghy.2011.10.002. Epub 2011 Oct 21.
29. Niiro M, etal., Thromb Res. 2008;122(2):247-55. Epub 2007 Dec 11.
30. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
31. Ogiwara K, etal., Int J Hematol. 2014;99(5):577-87. doi: 10.1007/s12185-014-1572-4. Epub 2014 Apr 1.
32. Okugawa Y, etal., Am J Hematol. 2000 Nov;65(3):210-4.
33. Park JB, etal., PLoS One. 2011;6(11):e28327. doi: 10.1371/journal.pone.0028327. Epub 2011 Nov 29.
34. Parunov LA, etal., Thromb Res. 2014 Jan;133(1):112-9. doi: 10.1016/j.thromres.2013.10.036. Epub 2013 Nov 1.
35. Peled E, etal., Thromb Res. 2013 Jan;131(1):94-8. doi: 10.1016/j.thromres.2012.09.018. Epub 2012 Oct 9.
36. Pipeline to import KEGG annotations from KEGG into RGD
37. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
38. Potze W, etal., Br J Haematol. 2013 Sep;162(6):819-26. doi: 10.1111/bjh.12462. Epub 2013 Jul 11.
39. Rancourt RC, etal., Toxicol Appl Pharmacol. 2013 Oct 1;272(1):86-95. doi: 10.1016/j.taap.2013.05.020. Epub 2013 May 30.
40. Ravindranath TM, etal., Clin Appl Thromb Hemost. 2004 Oct;10(4):379-85.
41. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
42. RGD automated import pipeline for gene-chemical interactions
43. Rogolino A, etal., Blood Coagul Fibrinolysis. 2003 Apr;14(3):277-82.
44. Saito M, etal., Rinsho Ketsueki. 1996 Sep;37(9):794-8.
45. Schjetlein R, etal., Acta Obstet Gynecol Scand. 1999 Mar;78(3):191-7.
46. Schneider P, etal., Br J Haematol. 2010 Feb;148(4):582-92. doi: 10.1111/j.1365-2141.2009.07958.x. Epub 2009 Oct 28.
47. Sidelmann JJ, etal., Blood Coagul Fibrinolysis. 2008 Jul;19(5):405-9. doi: 10.1097/MBC.0b013e3283049639.
48. Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
49. Steppich B, etal., Thromb Haemost. 2005 Jan;93(1):35-9.
50. Sun Y, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2008 Jun;16(3):493-6.
51. Tardy-Poncet B, etal., Thromb Res. 2012 Dec;130(6):925-8. doi: 10.1016/j.thromres.2012.07.025. Epub 2012 Oct 15.
52. Ushigome H, etal., J Surg Res. 2002 Feb;102(2):102-9.
53. Westrick RJ, etal., Circulation. 2001 Jun 26;103(25):3044-6.
54. Yamashita T, etal., Circulation 2003 Nov 18;108(20):2450-2. Epub 2003 Nov 10.
55. Yoshimura N, etal., Transplantation. 1999 Jan 15;67(1):45-53.
56. Yu J, etal., Heart Vessels. 2011 Nov;26(6):646-53. doi: 10.1007/s00380-010-0106-0. Epub 2011 Jan 13.
57. Zhu Y, etal., Hunan Yi Ke Da Xue Xue Bao. 2000 Aug 28;25(4):401-2, 405.
Additional References at PubMed
PMID:1353057   PMID:1558967   PMID:1993173   PMID:2002045   PMID:2271516   PMID:2452157   PMID:2553722   PMID:2781520   PMID:2927510   PMID:3024756   PMID:3422166   PMID:3492226  
PMID:7498454   PMID:7598447   PMID:7706485   PMID:7841311   PMID:8104873   PMID:8327992   PMID:8639592   PMID:9199408   PMID:9242660   PMID:9252393   PMID:9867356   PMID:10348905  
PMID:10391209   PMID:10856975   PMID:10859319   PMID:10922378   PMID:10996745   PMID:11057878   PMID:11166776   PMID:11380428   PMID:11460016   PMID:11686353   PMID:11693665   PMID:11697721  
PMID:11772005   PMID:11776326   PMID:11816723   PMID:11848461   PMID:12028585   PMID:12038800   PMID:12117418   PMID:12193974   PMID:12195688   PMID:12270558   PMID:12408975   PMID:12428111  
PMID:12477932   PMID:12482841   PMID:12540955   PMID:12787023   PMID:12818258   PMID:12871406   PMID:12893029   PMID:14610342   PMID:15307537   PMID:15339683   PMID:15340161   PMID:15351861  
PMID:15467908   PMID:15489334   PMID:15604416   PMID:15817451   PMID:15845911   PMID:15886798   PMID:15892865   PMID:16113753   PMID:16246254   PMID:16247609   PMID:16261634   PMID:16335952  
PMID:16344560   PMID:16380494   PMID:16431924   PMID:16488980   PMID:16516912   PMID:16765424   PMID:16879232   PMID:17003923   PMID:17082321   PMID:17180732   PMID:17196206   PMID:17207965  
PMID:17469034   PMID:17702963   PMID:17704111   PMID:17762532   PMID:17890962   PMID:17931693   PMID:17951326   PMID:18029348   PMID:18045239   PMID:18067603   PMID:18180609   PMID:18217145  
PMID:18310227   PMID:18327407   PMID:18419747   PMID:18677291   PMID:18690350   PMID:18977990   PMID:19007969   PMID:19016004   PMID:19017259   PMID:19065458   PMID:19132232   PMID:19169266  
PMID:19238444   PMID:19244162   PMID:19277407   PMID:19322201   PMID:19350127   PMID:19401682   PMID:19411818   PMID:19467658   PMID:19581412   PMID:19630792   PMID:19631649   PMID:19689998  
PMID:19859836   PMID:19913121   PMID:20034913   PMID:20062932   PMID:20088940   PMID:20128871   PMID:20140262   PMID:20176395   PMID:20431849   PMID:20442653   PMID:20444258   PMID:20453636  
PMID:20492471   PMID:20519147   PMID:20523161   PMID:20628086   PMID:20978710   PMID:21029363   PMID:21132373   PMID:21244100   PMID:21293010   PMID:21344386   PMID:21378988   PMID:21474669  
PMID:21555871   PMID:21664032   PMID:21832049   PMID:21849050   PMID:21868574   PMID:21873635   PMID:21895962   PMID:21979881   PMID:22144186   PMID:22178066   PMID:22363056   PMID:22449009  
PMID:22461171   PMID:22627666   PMID:22632032   PMID:22658294   PMID:22749962   PMID:22836130   PMID:22900482   PMID:22918506   PMID:22932941   PMID:22939629   PMID:22985614   PMID:23038262  
PMID:23071754   PMID:23074276   PMID:23327927   PMID:23348798   PMID:23374966   PMID:23407778   PMID:23524311   PMID:23530052   PMID:23583979   PMID:23979162   PMID:24094893   PMID:24127605  
PMID:24226152   PMID:24233486   PMID:24233490   PMID:24275667   PMID:24448154   PMID:24461489   PMID:24620349   PMID:24716194   PMID:24740810   PMID:24966616   PMID:25163770   PMID:25303460  
PMID:25348176   PMID:25359215   PMID:25617766   PMID:25712553   PMID:25864889   PMID:25879386   PMID:25882602   PMID:26163243   PMID:26233570   PMID:26377606   PMID:26439863   PMID:26496276  
PMID:26598923   PMID:26603155   PMID:26681757   PMID:26765308   PMID:26826018   PMID:26945263   PMID:26968713   PMID:26999003   PMID:26999742   PMID:27207418   PMID:27801970   PMID:28211163  
PMID:28246607   PMID:28328938   PMID:28393401   PMID:28421636   PMID:28482260   PMID:28514442   PMID:28521572   PMID:28569919   PMID:28712870   PMID:28716011   PMID:28749986   PMID:28894953  
PMID:28983056   PMID:29452445   PMID:29864781   PMID:30366247   PMID:30439766   PMID:30695687   PMID:30861202   PMID:30896671   PMID:30952698   PMID:32445923   PMID:32780723   PMID:33465109  


Genomics

Comparative Map Data
TFPI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2187,464,230 - 187,565,760 (-)EnsemblGRCh38hg38GRCh38
GRCh382187,464,230 - 187,554,501 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372188,328,957 - 188,419,162 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362188,037,202 - 188,127,464 (-)NCBINCBI36hg18NCBI36
Build 342188,156,790 - 188,244,556NCBI
Celera2181,925,068 - 182,015,356 (-)NCBI
Cytogenetic Map2q32.1NCBI
HuRef2180,188,532 - 180,278,959 (-)NCBIHuRef
CHM1_12188,334,627 - 188,424,881 (-)NCBICHM1_1
Tfpi
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39284,263,199 - 84,307,119 (-)NCBIGRCm39mm39
GRCm39 Ensembl284,263,199 - 84,307,119 (-)Ensembl
GRCm38284,432,855 - 84,476,775 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl284,432,855 - 84,476,775 (-)EnsemblGRCm38mm10GRCm38
MGSCv37284,273,017 - 84,316,932 (-)NCBIGRCm37mm9NCBIm37
MGSCv36284,233,699 - 84,275,013 (-)NCBImm8
Celera286,041,007 - 86,084,914 (-)NCBICelera
Cytogenetic Map2DNCBI
Tfpi
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2369,533,156 - 69,582,547 (-)NCBI
Rnor_6.0 Ensembl371,852,744 - 71,893,618 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0371,852,738 - 71,902,127 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0378,373,808 - 78,423,115 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4367,654,389 - 67,697,178 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1367,550,760 - 67,593,550 (-)NCBI
Celera368,890,124 - 68,933,788 (-)NCBICelera
Cytogenetic Map3q24NCBI
Tfpi
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540310,924,893 - 11,004,284 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540310,925,155 - 11,004,229 (+)NCBIChiLan1.0ChiLan1.0
TFPI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B192,541,881 - 192,631,867 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B192,541,881 - 192,581,384 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B74,744,154 - 74,834,338 (-)NCBIMhudiblu_PPA_v0panPan3
TFPI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13629,457,131 - 29,546,455 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3629,459,371 - 29,511,310 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3629,358,584 - 29,410,512 (-)NCBI
ROS_Cfam_1.03629,680,362 - 29,769,683 (-)NCBI
UMICH_Zoey_3.13629,744,554 - 29,796,457 (-)NCBI
UNSW_CanFamBas_1.03629,679,616 - 29,731,462 (-)NCBI
UU_Cfam_GSD_1.03629,848,287 - 29,900,234 (-)NCBI
Tfpi
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303146,663,997 - 146,734,969 (-)NCBI
SpeTri2.0NW_00493650610,103,120 - 10,172,800 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TFPI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1592,345,075 - 92,409,905 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11592,345,083 - 92,409,962 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215102,535,224 - 102,694,356 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TFPI
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11073,004,762 - 73,105,772 (-)NCBI
ChlSab1.1 Ensembl1073,002,522 - 73,105,858 (-)Ensembl
Vero_WHO_p1.0NW_023666040126,397,666 - 126,498,612 (+)NCBI
Tfpi
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248992,401,861 - 2,473,762 (+)NCBI

Position Markers
SHGC-35690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,329,041 - 188,329,241UniSTSGRCh37
Build 362188,037,286 - 188,037,486RGDNCBI36
Celera2181,925,152 - 181,925,352RGD
Cytogenetic Map2q32UniSTS
HuRef2180,188,616 - 180,188,816UniSTS
GeneMap99-GB4 RH Map2590.19UniSTS
Whitehead-RH Map2917.2UniSTS
RH93109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,348,065 - 188,348,234UniSTSGRCh37
Build 362188,056,310 - 188,056,479RGDNCBI36
Celera2181,944,176 - 181,944,345RGD
Cytogenetic Map2q32UniSTS
HuRef2180,207,636 - 180,207,805UniSTS
GeneMap99-GB4 RH Map2588.81UniSTS
AL033893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,379,768 - 188,379,894UniSTSGRCh37
GRCh371113,372,946 - 113,373,072UniSTSGRCh37
Build 361113,174,469 - 113,174,595RGDNCBI36
Celera1111,601,787 - 111,601,913RGD
Celera2181,975,882 - 181,976,008UniSTS
Cytogenetic Map2q32UniSTS
HuRef2180,239,515 - 180,239,641UniSTS
HuRef1111,231,245 - 111,231,371UniSTS
RH121151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,418,075 - 188,418,391UniSTSGRCh37
Build 362188,126,320 - 188,126,636RGDNCBI36
Celera2182,014,212 - 182,014,528RGD
Cytogenetic Map2q32UniSTS
HuRef2180,277,815 - 180,278,131UniSTS
TNG Radiation Hybrid Map243731.0UniSTS
TFPI  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,361,649 - 188,361,802UniSTSGRCh37
Build 362188,069,894 - 188,070,047RGDNCBI36
Celera2181,957,761 - 181,957,914RGD
HuRef2180,221,395 - 180,221,548UniSTS
WI-17615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,391,504 - 188,391,646UniSTSGRCh37
Build 362188,099,749 - 188,099,891RGDNCBI36
Celera2181,987,618 - 181,987,760RGD
Cytogenetic Map2q32UniSTS
HuRef2180,251,247 - 180,251,389UniSTS
GeneMap99-GB4 RH Map2593.65UniSTS
Whitehead-RH Map2921.2UniSTS
RH44998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,392,904 - 188,393,013UniSTSGRCh37
Build 362188,101,149 - 188,101,258RGDNCBI36
Celera2181,989,018 - 181,989,127RGD
Cytogenetic Map2q32UniSTS
HuRef2180,252,647 - 180,252,756UniSTS
GeneMap99-GB4 RH Map2590.19UniSTS
SHGC-32709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,349,556 - 188,349,685UniSTSGRCh37
Build 362188,057,801 - 188,057,930RGDNCBI36
Celera2181,945,667 - 181,945,796RGD
Cytogenetic Map2q32UniSTS
HuRef2180,209,123 - 180,209,252UniSTS
TNG Radiation Hybrid Map243791.0UniSTS
GeneMap99-GB4 RH Map2593.65UniSTS
Whitehead-RH Map2919.8UniSTS
SGC32902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,343,371 - 188,343,470UniSTSGRCh37
Build 362188,051,616 - 188,051,715RGDNCBI36
Celera2181,939,482 - 181,939,581RGD
Cytogenetic Map2q32UniSTS
HuRef2180,202,944 - 180,203,043UniSTS
GeneMap99-GB4 RH Map2589.98UniSTS
Whitehead-RH Map2915.5UniSTS
A007F18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372188,329,915 - 188,330,079UniSTSGRCh37
Build 362188,038,160 - 188,038,324RGDNCBI36
Celera2181,926,026 - 181,926,190RGD
Cytogenetic Map2q32UniSTS
HuRef2180,189,490 - 180,189,654UniSTS
GeneMap99-GB4 RH Map2591.94UniSTS
D2S2820  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q32UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2318
Count of miRNA genes:776
Interacting mature miRNAs:861
Transcripts:ENST00000233156, ENST00000339091, ENST00000392365, ENST00000409676, ENST00000417013, ENST00000420747, ENST00000421427, ENST00000426055, ENST00000435414, ENST00000437725, ENST00000453013, ENST00000481132, ENST00000481389
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1887 1803 1221 526 435 442 3065 1367 711 300 747 1399 92 1202 2081 3
Low 529 765 504 98 618 23 1278 825 2781 113 682 187 81 1 2 707 3 2
Below cutoff 22 423 1 650 14 5 241 6 30 27 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB035127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF021834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU136083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY263365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY175080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000233156   ⟹   ENSP00000233156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,464,230 - 187,554,435 (-)Ensembl
RefSeq Acc Id: ENST00000339091   ⟹   ENSP00000342306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,478,585 - 187,554,438 (-)Ensembl
RefSeq Acc Id: ENST00000392365   ⟹   ENSP00000376172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,464,230 - 187,513,641 (-)Ensembl
RefSeq Acc Id: ENST00000409676   ⟹   ENSP00000386344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,478,578 - 187,554,431 (-)Ensembl
RefSeq Acc Id: ENST00000417013   ⟹   ENSP00000400179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,496,972 - 187,554,492 (-)Ensembl
RefSeq Acc Id: ENST00000420747   ⟹   ENSP00000402954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,497,016 - 187,554,461 (-)Ensembl
RefSeq Acc Id: ENST00000421427   ⟹   ENSP00000408170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,496,881 - 187,565,760 (-)Ensembl
RefSeq Acc Id: ENST00000435414   ⟹   ENSP00000409177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,467,875 - 187,513,653 (-)Ensembl
RefSeq Acc Id: ENST00000437725   ⟹   ENSP00000388159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,496,881 - 187,554,351 (-)Ensembl
RefSeq Acc Id: ENST00000453013   ⟹   ENSP00000394185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,496,884 - 187,554,492 (-)Ensembl
RefSeq Acc Id: ENST00000481132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,467,002 - 187,519,860 (-)Ensembl
RefSeq Acc Id: ENST00000481389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2187,483,930 - 187,496,976 (-)Ensembl
RefSeq Acc Id: NM_001032281   ⟹   NP_001027452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,478,578 - 187,554,435 (-)NCBI
GRCh372188,328,957 - 188,419,219 (-)ENTREZGENE
Build 362188,051,550 - 188,127,464 (-)NCBI Archive
HuRef2180,188,532 - 180,278,959 (-)ENTREZGENE
CHM1_12188,348,974 - 188,424,881 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318941   ⟹   NP_001305870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,478,578 - 187,554,435 (-)NCBI
CHM1_12188,348,974 - 188,424,881 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329239   ⟹   NP_001316168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,464,230 - 187,554,435 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329240   ⟹   NP_001316169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,464,230 - 187,554,435 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329241   ⟹   NP_001316170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,464,230 - 187,554,435 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006287   ⟹   NP_006278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,464,230 - 187,554,435 (-)NCBI
GRCh372188,328,957 - 188,419,219 (-)ENTREZGENE
Build 362188,037,202 - 188,127,464 (-)NCBI Archive
HuRef2180,188,532 - 180,278,959 (-)ENTREZGENE
CHM1_12188,334,627 - 188,424,881 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712720   ⟹   XP_006712783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,466,798 - 187,520,621 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511709   ⟹   XP_011510011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,466,796 - 187,544,626 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453058   ⟹   XP_024308826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,466,796 - 187,554,435 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453059   ⟹   XP_024308827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,477,809 - 187,554,500 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453060   ⟹   XP_024308828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,477,809 - 187,520,621 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453061   ⟹   XP_024308829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,477,809 - 187,554,501 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453062   ⟹   XP_024308830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,477,809 - 187,520,613 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006278   ⟸   NM_006287
- Peptide Label: isoform a precursor
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001027452   ⟸   NM_001032281
- Peptide Label: isoform b precursor
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712783   ⟸   XM_006712720
- Peptide Label: isoform X1
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510011   ⟸   XM_011511709
- Peptide Label: isoform X1
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305870   ⟸   NM_001318941
- Peptide Label: isoform b precursor
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316169   ⟸   NM_001329240
- Peptide Label: isoform a precursor
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316170   ⟸   NM_001329241
- Peptide Label: isoform a precursor
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316168   ⟸   NM_001329239
- Peptide Label: isoform a precursor
- UniProtKB: P10646 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308826   ⟸   XM_024453058
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308829   ⟸   XM_024453061
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308827   ⟸   XM_024453059
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308828   ⟸   XM_024453060
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308830   ⟸   XM_024453062
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000388159   ⟸   ENST00000437725
RefSeq Acc Id: ENSP00000394185   ⟸   ENST00000453013
RefSeq Acc Id: ENSP00000400179   ⟸   ENST00000417013
RefSeq Acc Id: ENSP00000342306   ⟸   ENST00000339091
RefSeq Acc Id: ENSP00000233156   ⟸   ENST00000233156
RefSeq Acc Id: ENSP00000376172   ⟸   ENST00000392365
RefSeq Acc Id: ENSP00000386344   ⟸   ENST00000409676
RefSeq Acc Id: ENSP00000402954   ⟸   ENST00000420747
RefSeq Acc Id: ENSP00000408170   ⟸   ENST00000421427
RefSeq Acc Id: ENSP00000409177   ⟸   ENST00000435414
Protein Domains
BPTI/Kunitz inhibitor

Promoters
RGD ID:6862286
Promoter ID:EPDNEW_H4308
Type:initiation region
Name:TFPI_1
Description:tissue factor pathway inhibitor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4309  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382187,554,435 - 187,554,495EPDNEW
RGD ID:6797150
Promoter ID:HG_KWN:36304
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:ENST00000374896,   NM_001032281,   NM_006287,   OTTHUMT00000334638,   OTTHUMT00000334639,   OTTHUMT00000334640,   OTTHUMT00000334641,   UC002UPZ.1,   UC002UQB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362188,127,111 - 188,127,611 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
NM_001032281.2(TFPI):c.640G>A (p.Gly214Arg) single nucleotide variant Malignant melanoma [RCV000065319] Chr2:187478792 [GRCh38]
Chr2:188343519 [GRCh37]
Chr2:188051764 [NCBI36]
Chr2:2q32.1
not provided
NM_006287.4(TFPI):c.552G>A (p.Val184=) single nucleotide variant Malignant melanoma [RCV000060428] Chr2:187484200 [GRCh38]
Chr2:188348927 [GRCh37]
Chr2:188057172 [NCBI36]
Chr2:2q32.1
not provided
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3
pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.1(chr2:187370142-188535099)x4 copy number gain not provided [RCV000740779] Chr2:187370142..188535099 [GRCh37]
Chr2:2q32.1
uncertain significance
GRCh37/hg19 2q32.1(chr2:188156578-188332692)x3 copy number gain not provided [RCV000740782] Chr2:188156578..188332692 [GRCh37]
Chr2:2q32.1
benign
GRCh37/hg19 2q32.1(chr2:188196469-188515037)x3 copy number gain not provided [RCV000740783] Chr2:188196469..188515037 [GRCh37]
Chr2:2q32.1
benign
GRCh37/hg19 2q32.1(chr2:188388311-188515037)x3 copy number gain not provided [RCV000740784] Chr2:188388311..188515037 [GRCh37]
Chr2:2q32.1
benign
NM_006287.6(TFPI):c.628+8T>C single nucleotide variant not provided [RCV000968838] Chr2:187484116 [GRCh38]
Chr2:188348843 [GRCh37]
Chr2:2q32.1
benign
GRCh37/hg19 2q32.1(chr2:188321109-188696676)x1 copy number loss not provided [RCV001005366] Chr2:188321109..188696676 [GRCh37]
Chr2:2q32.1
uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787402] Chr2:186356601..188906835 [GRCh37]
Chr2:2q32.1
pathogenic
GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1 copy number loss not provided [RCV000845864] Chr2:186861444..188658263 [GRCh37]
Chr2:2q32.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3 copy number gain not provided [RCV000847709] Chr2:186234826..188972311 [GRCh37]
Chr2:2q32.1
uncertain significance
NM_006287.6(TFPI):c.319+10T>C single nucleotide variant not provided [RCV000974936] Chr2:187496871 [GRCh38]
Chr2:188361598 [GRCh37]
Chr2:2q32.1
benign
NM_006287.6(TFPI):c.440C>A (p.Thr147Lys) single nucleotide variant not provided [RCV000955298] Chr2:187484906 [GRCh38]
Chr2:188349633 [GRCh37]
Chr2:2q32.1
benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11760 AgrOrtholog
COSMIC TFPI COSMIC
Ensembl Genes ENSG00000003436 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000233156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000342306 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376172 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386344 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388159 UniProtKB/TrEMBL
  ENSP00000394185 UniProtKB/TrEMBL
  ENSP00000400179 UniProtKB/TrEMBL
  ENSP00000402954 UniProtKB/TrEMBL
  ENSP00000408170 UniProtKB/TrEMBL
  ENSP00000409177 UniProtKB/TrEMBL
Ensembl Transcript ENST00000233156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000339091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409676 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417013 UniProtKB/TrEMBL
  ENST00000420747 UniProtKB/TrEMBL
  ENST00000421427 UniProtKB/TrEMBL
  ENST00000435414 UniProtKB/TrEMBL
  ENST00000437725 UniProtKB/TrEMBL
  ENST00000453013 UniProtKB/TrEMBL
Gene3D-CATH 4.10.410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000003436 GTEx
HGNC ID HGNC:11760 ENTREZGENE
Human Proteome Map TFPI Human Proteome Map
InterPro Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prtase_inh_Kunz-CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFPI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7035 UniProtKB/Swiss-Prot
NCBI Gene 7035 ENTREZGENE
OMIM 152310 OMIM
Pfam Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36475 PharmGKB
PIRSF TFPI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS BASICPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BPTI_KUNITZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPTI_KUNITZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J103_HUMAN UniProtKB/TrEMBL
  C9JKV3_HUMAN UniProtKB/TrEMBL
  C9JP39_HUMAN UniProtKB/TrEMBL
  C9JQ14_HUMAN UniProtKB/TrEMBL
  C9JT76_HUMAN UniProtKB/TrEMBL
  P10646 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O95103 UniProtKB/Swiss-Prot
  Q53TS4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TFPI  tissue factor pathway inhibitor    tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)  Symbol and/or name change 5135510 APPROVED
2011-08-16 TFPI  tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)  TFPI  tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)  Symbol and/or name change 5135510 APPROVED