STAT4 (signal transducer and activator of transcription 4) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: STAT4 (signal transducer and activator of transcription 4) Homo sapiens
Analyze
Symbol: STAT4
Name: signal transducer and activator of transcription 4
RGD ID: 1313964
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in several processes, including cell surface receptor signaling pathway; renal tubule development; and response to peptide hormone. Predicted to act upstream of or within several processes, including hematopoietic stem cell homeostasis; positive regulation of macromolecule metabolic process; and protein phosphorylation. Predicted to be located in nucleus. Predicted to be part of chromatin. Implicated in several diseases, including IgA glomerulonephritis; autoimmune disease (multiple); dermatomyositis; genital herpes; and systemic scleroderma (multiple). Biomarker of Sezary's disease; cholesteatoma; and viral hepatitis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: signal transducer and activator of transcription 4 variant 3; SLEB11
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 Ensembl2191,029,576 - 191,151,596 (-)EnsemblGRCh38hg38GRCh38
GRCh382191,029,576 - 191,172,684 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372191,894,302 - 192,016,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,602,551 - 191,724,170 (-)NCBINCBI36hg18NCBI36
Build 342191,719,811 - 191,841,431NCBI
Celera2185,488,908 - 185,610,548 (-)NCBI
Cytogenetic Map2q32.2-q32.3NCBI
HuRef2183,753,956 - 183,875,743 (-)NCBIHuRef
CHM1_12191,900,128 - 192,022,113 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal hip joint morphology  (IAGP)
Abnormal metatarsal morphology  (IAGP)
Abnormal myocardium morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal serum interleukin level  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormality of metacarpophalangeal joint  (IAGP)
Abnormality of the ankles  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the temporomandibular joint  (IAGP)
Abnormality of the wrist  (IAGP)
Acne  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Ankle swelling  (IAGP)
Anorexia  (IAGP)
Anterior chamber synechiae  (IAGP)
Anti-centromere antibody positivity  (IAGP)
Anti-La/SS-B antibody positivity  (IAGP)
Anti-mitochondrial M2 antibody positivity  (IAGP)
Anti-topoisomerase I antibody positivity  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Aortic regurgitation  (IAGP)
Arterial thrombosis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Ascites  (IAGP)
Ataxia  (IAGP)
Avascular necrosis  (IAGP)
Band keratopathy  (IAGP)
Biliary cirrhosis  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Cholestasis  (IAGP)
Cognitive impairment  (IAGP)
Confusion  (IAGP)
Cranial nerve paralysis  (IAGP)
Crohn's disease  (IAGP)
Dark urine  (IAGP)
Decreased serum complement C3  (IAGP)
Decreased serum complement C4  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Discoid lupus rash  (IAGP)
Dyspnea  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Encephalitis  (IAGP)
Endocarditis  (IAGP)
Enthesitis  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glaucoma  (IAGP)
Glomerulopathy  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hemoptysis  (IAGP)
Hepatosplenomegaly  (IAGP)
Hip osteoarthritis  (IAGP)
Hyperreflexia  (IAGP)
Immunologic hypersensitivity  (IAGP)
Increased circulating IgG level  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased hepatitis B virus antibody level  (IAGP)
Increased intracranial pressure  (IAGP)
Increased serum interferon-gamma level  (IAGP)
Increased total bilirubin  (IAGP)
Iridocyclitis  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Knee osteoarthritis  (IAGP)
Language impairment  (IAGP)
Leukopenia  (IAGP)
Low-grade fever  (IAGP)
Lupus anticoagulant  (IAGP)
Lymphadenopathy  (IAGP)
Lymphopenia  (IAGP)
Malabsorption  (IAGP)
Malar rash  (IAGP)
Memory impairment  (IAGP)
Meningitis  (IAGP)
Microangiopathic hemolytic anemia  (IAGP)
Migraine  (IAGP)
Mild postnatal growth retardation  (IAGP)
Mitral regurgitation  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myocardial infarction  (IAGP)
Myositis  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the liver  (IAGP)
Nephritis  (IAGP)
Nephrotic syndrome  (IAGP)
Oligoarthritis  (IAGP)
Oral ulcer  (IAGP)
Orchitis  (IAGP)
Pancreatitis  (IAGP)
Papule  (IAGP)
Paresthesia  (IAGP)
Pericardial effusion  (IAGP)
Pericarditis  (IAGP)
Photophobia  (IAGP)
Pleural effusion  (IAGP)
Pleuritis  (IAGP)
Proteinuria  (IAGP)
Psoriasiform dermatitis  (IAGP)
Psychosis  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Reduced consciousness/confusion  (IAGP)
Reduced visual acuity  (IAGP)
Renal insufficiency  (IAGP)
Retinopathy  (IAGP)
Retrobulbar optic neuritis  (IAGP)
Rheumatoid arthritis  (IAGP)
Sclerodactyly  (IAGP)
Scleroderma  (IAGP)
Seizure  (IAGP)
Severe postnatal growth retardation  (IAGP)
Splenomegaly  (IAGP)
Subcutaneous nodule  (IAGP)
Synovial hypertrophy  (IAGP)
Synovitis  (IAGP)
Systemic lupus erythematosus  (IAGP)
Thrombocytopenia  (IAGP)
Uveitis  (IAGP)
Vasculitis  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Viral hepatitis  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Xerostomia  (IAGP)
References

References - curated
1. Aiba Y, etal., J Hum Genet. 2015 Sep;60(9):525-31. doi: 10.1038/jhg.2015.59. Epub 2015 Jun 18.
2. Alonso-Perez E, etal., PLoS One. 2012;7(9):e45356. doi: 10.1371/journal.pone.0045356. Epub 2012 Sep 26.
3. Aprahamian T, etal., J Immunol. 2006 Sep 1;177(5):3028-34.
4. Avouac J, etal., Arthritis Rheum. 2011 Mar;63(3):800-9. doi: 10.1002/art.30171.
5. Banerjee K, etal., J Interferon Cytokine Res. 2007 Jan;27(1):65-75.
6. Bowes J, etal., Ann Rheum Dis. 2012 Aug;71(8):1350-4. doi: 10.1136/annrheumdis-2011-200802. Epub 2012 Feb 10.
7. Chakrabarti SK, etal., Am J Physiol Endocrinol Metab. 2011 Jan;300(1):E175-87. Epub 2010 Oct 26.
8. Chanthra N, etal., Asian Pac J Cancer Prev. 2015;16(18):8405-10.
9. Chowdhary VR, etal., J Immunol. 2012 Aug 15;189(4):2054-62. doi: 10.4049/jimmunol.1201097. Epub 2012 Jul 13.
10. Dieude P, etal., Arthritis Rheum. 2009 Aug;60(8):2472-9. doi: 10.1002/art.24688.
11. Eskiizmir G, etal., Am J Otolaryngol. 2014 Mar-Apr;35(2):130-6. doi: 10.1016/j.amjoto.2013.10.005. Epub 2013 Oct 30.
12. Gestermann N, etal., Genes Immun. 2010 Jul;11(5):432-8. doi: 10.1038/gene.2010.29. Epub 2010 Jun 10.
13. GOA_HUMAN data from the GO Consortium
14. Gourh P, etal., Arthritis Rheum. 2009 Dec;60(12):3794-806. doi: 10.1002/art.24958.
15. Hahn WH, etal., Cytokine. 2010 Apr;50(1):69-74. doi: 10.1016/j.cyto.2009.12.004. Epub 2010 Jan 4.
16. Holz A, etal., J Immunol. 1999 Nov 15;163(10):5374-82.
17. Hou S, etal., Arthritis Rheum. 2012 Dec;64(12):4104-13. doi: 10.1002/art.37708.
18. Hu K, etal., Hum Immunol. 2010 Jul;71(7):723-6. doi: 10.1016/j.humimm.2010.04.007. Epub 2010 May 14.
19. Jee Y, etal., J Neuroimmunol. 2001 Mar 1;114(1-2):40-7.
20. Joshita S, etal., Dis Markers. 2014;2014:727393. doi: 10.1155/2014/727393. Epub 2014 Feb 4.
21. Kawasaki A, etal., Arthritis Res Ther. 2008;10(5):R113. doi: 10.1186/ar2516. Epub 2008 Sep 19.
22. Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
23. Korman BD, etal., Genes Immun. 2008 Apr;9(3):267-70. doi: 10.1038/gene.2008.1. Epub 2008 Feb 14.
24. Kremer M, etal., Hepatology. 2006 Jul;44(1):216-27. doi: 10.1002/hep.21221.
25. Land KJ, etal., Endocrinology. 2006 Jan;147(1):111-9. Epub 2005 Sep 29.
26. Li CC, etal., Zhonghua Er Ke Za Zhi. 2007 Oct;45(10):727-31.
27. Li X, etal., Oncotarget. 2017 Apr 27;8(37):60933-60940. doi: 10.18632/oncotarget.17458. eCollection 2017 Sep 22.
28. Liao Y, etal., Liver Int. 2015 Mar;35(3):886-96. doi: 10.1111/liv.12643. Epub 2014 Aug 5.
29. Lu Y, etal., Immunol Res. 2015 Jun;62(2):146-52. doi: 10.1007/s12026-015-8645-1.
30. Matsukawa A, etal., J Exp Med. 2001 Mar 19;193(6):679-88.
31. Menke J, etal., Kidney Int. 2011 Feb;79(4):452-63. Epub 2010 Oct 27.
32. Migita K, etal., PLoS One. 2013 Aug 22;8(8):e71382. doi: 10.1371/journal.pone.0071382. eCollection 2013.
33. Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
34. Nebozhyn M, etal., Blood. 2006 Apr 15;107(8):3189-96. Epub 2006 Jan 10.
35. Oghumu S, etal., Eur J Immunol. 2014 Feb;44(2):450-9. doi: 10.1002/eji.201343477. Epub 2013 Nov 15.
36. OMIM Disease Annotation Pipeline
37. Palomino-Morales RJ, etal., J Rheumatol. 2010 May;37(5):1016-9. doi: 10.3899/jrheum.091007. Epub 2010 Apr 1.
38. Pei H, etal., Am J Physiol Endocrinol Metab. 2006 Jan;290(1):E92-E102. Epub 2005 Aug 23.
39. Piotrowski P, etal., Mol Biol Rep. 2012 Sep;39(9):8861-6. doi: 10.1007/s11033-012-1752-3. Epub 2012 Jun 24.
40. Pipeline to import KEGG annotations from KEGG into RGD
41. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
42. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
43. RGD automated import pipeline for gene-chemical interactions
44. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
45. Ronis MJ, etal., Exp Biol Med (Maywood). 2008 Mar;233(3):344-55. doi: 10.3181/0707-RM-203.
46. Rueda B, etal., Hum Mol Genet. 2009 Jun 1;18(11):2071-7. doi: 10.1093/hmg/ddp119. Epub 2009 Mar 13.
47. Sanchez E, etal., Ann Rheum Dis. 2011 Jun 30.
48. Sharma S, etal., Pediatr Allergy Immunol. 2012 Jun;23(4):315-23. doi: 10.1111/j.1399-3038.2011.01243.x. Epub 2011 Dec 23.
49. Stamm LM, etal., Eur J Immunol. 1999 Aug;29(8):2524-9.
50. Sugiura T, etal., Ann Rheum Dis. 2012 Oct;71(10):1646-50. doi: 10.1136/annrheumdis-2011-200839. Epub 2012 Mar 8.
51. Sugiura T, etal., PLoS One. 2014 Mar 14;9(3):e90019. doi: 10.1371/journal.pone.0090019. eCollection 2014.
52. Svensson A, etal., J Virol. 2012 Sep;86(17):9409-15. doi: 10.1128/JVI.00947-12. Epub 2012 Jun 20.
53. Taylor KE, etal., PLoS Genet. 2008 May 30;4(5):e1000084. doi: 10.1371/journal.pgen.1000084.
54. Vuong MT, etal., PLoS One. 2010 May 10;5(5):e10559. doi: 10.1371/journal.pone.0010559.
55. Wang C and Li Z, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2013 Dec;29(12):1233-6.
56. Wang Y, etal., Am J Pathol. 2014 Jun;184(6):1785-94. doi: 10.1016/j.ajpath.2014.02.023. Epub 2014 Apr 13.
57. Yang H, etal., Transpl Immunol. 2011 May;24(4):216-9. doi: 10.1016/j.trim.2011.01.001. Epub 2011 Jan 13.
58. Yi L, etal., Int J Immunopathol Pharmacol. 2013 Apr-Jun;26(2):473-8.
59. You Q, etal., Biochem Pharmacol. 2013 Sep 15;86(6):836-43. doi: 10.1016/j.bcp.2013.07.006. Epub 2013 Jul 19.
60. Zervou MI, etal., Hum Immunol. 2009 Sep;70(9):738-41. doi: 10.1016/j.humimm.2009.05.008. Epub 2009 Jun 17.
61. Zheng L and Zhou H, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2017 Apr;33(4):521-525.
Additional References at PubMed
PMID:7638186   PMID:8007943   PMID:8700208   PMID:9284918   PMID:9630226   PMID:9890938   PMID:9989503   PMID:10415122   PMID:10779770   PMID:10961885   PMID:11397944   PMID:11801649  
PMID:12372421   PMID:12426389   PMID:12477932   PMID:12496413   PMID:12615922   PMID:12716907   PMID:12805384   PMID:14660657   PMID:14704793   PMID:15087447   PMID:15489334   PMID:15522880  
PMID:15637551   PMID:15744455   PMID:15963787   PMID:16081070   PMID:16301617   PMID:17046972   PMID:17095088   PMID:17532201   PMID:17703412   PMID:17804842   PMID:17932559   PMID:18029348  
PMID:18037959   PMID:18204098   PMID:18204446   PMID:18432273   PMID:18434327   PMID:18576330   PMID:18576336   PMID:18579578   PMID:18591661   PMID:18625278   PMID:18703106   PMID:18759272  
PMID:18802110   PMID:19019891   PMID:19092842   PMID:19109131   PMID:19110536   PMID:19120275   PMID:19165918   PMID:19225526   PMID:19258923   PMID:19274049   PMID:19282076   PMID:19332627  
PMID:19333953   PMID:19359411   PMID:19362457   PMID:19371230   PMID:19404967   PMID:19423540   PMID:19479340   PMID:19565500   PMID:19588142   PMID:19605742   PMID:19605749   PMID:19644876  
PMID:19674979   PMID:19684152   PMID:19710469   PMID:19717398   PMID:19737838   PMID:19741008   PMID:19762360   PMID:19838193   PMID:19877059   PMID:20049410   PMID:20131273   PMID:20153791  
PMID:20169389   PMID:20176035   PMID:20219786   PMID:20233754   PMID:20237121   PMID:20237496   PMID:20353580   PMID:20379614   PMID:20383147   PMID:20406964   PMID:20438785   PMID:20439292  
PMID:20444755   PMID:20453440   PMID:20453841   PMID:20453842   PMID:20454450   PMID:20498205   PMID:20503287   PMID:20584675   PMID:20716621   PMID:20797713   PMID:20822712   PMID:20848568  
PMID:20861858   PMID:20881011   PMID:20962850   PMID:21163111   PMID:21167895   PMID:21258797   PMID:21383967   PMID:21399635   PMID:21408207   PMID:21418779   PMID:21543583   PMID:21683716  
PMID:21740896   PMID:21750679   PMID:21779181   PMID:21826217   PMID:21873635   PMID:22001757   PMID:22069275   PMID:22077060   PMID:22133489   PMID:22483685   PMID:22569826   PMID:22714917  
PMID:22730365   PMID:22740693   PMID:22753649   PMID:22937072   PMID:23000144   PMID:23053960   PMID:23064011   PMID:23128233   PMID:23202532   PMID:23242368   PMID:23273568   PMID:23291587  
PMID:23295549   PMID:23360093   PMID:23628400   PMID:23727609   PMID:23740937   PMID:23748017   PMID:23773642   PMID:23912645   PMID:24014567   PMID:24097066   PMID:24162774   PMID:24312163  
PMID:24386384   PMID:24390342   PMID:24561123   PMID:24610875   PMID:24614117   PMID:24697319   PMID:24751105   PMID:24844303   PMID:24871463   PMID:24979672   PMID:25019342   PMID:25178516  
PMID:25179669   PMID:25351936   PMID:25365208   PMID:25369137   PMID:25486484   PMID:25665738   PMID:25771902   PMID:25781893   PMID:25814554   PMID:25852285   PMID:25864744   PMID:25913043  
PMID:25963842   PMID:26066297   PMID:26097239   PMID:26344197   PMID:26538132   PMID:26569609   PMID:26704347   PMID:26712637   PMID:26765219   PMID:26782418   PMID:26990433   PMID:27178308  
PMID:27234231   PMID:27235632   PMID:27342690   PMID:27394003   PMID:27444301   PMID:27494881   PMID:27960128   PMID:28107378   PMID:28114283   PMID:28145159   PMID:28400678   PMID:28420002  
PMID:28424905   PMID:28516569   PMID:28524764   PMID:28631694   PMID:28852993   PMID:29029192   PMID:29187449   PMID:29276866   PMID:29330562   PMID:29475858   PMID:29523850   PMID:29576322  
PMID:29956222   PMID:29963713   PMID:30041578   PMID:30044774   PMID:30054428   PMID:30426475   PMID:30463656   PMID:30502321   PMID:30620272   PMID:30642265   PMID:30660736   PMID:30864557  
PMID:30882006   PMID:30887509   PMID:31160486   PMID:31628681   PMID:31757580   PMID:31916109   PMID:32120844   PMID:32439233   PMID:32661180   PMID:32711605   PMID:32814053   PMID:32945358  
PMID:33512094   PMID:33636177   PMID:33796885  


Genomics

Comparative Map Data
STAT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2191,029,576 - 191,151,596 (-)EnsemblGRCh38hg38GRCh38
GRCh382191,029,576 - 191,172,684 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372191,894,302 - 192,016,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,602,551 - 191,724,170 (-)NCBINCBI36hg18NCBI36
Build 342191,719,811 - 191,841,431NCBI
Celera2185,488,908 - 185,610,548 (-)NCBI
Cytogenetic Map2q32.2-q32.3NCBI
HuRef2183,753,956 - 183,875,743 (-)NCBIHuRef
CHM1_12191,900,128 - 192,022,113 (-)NCBICHM1_1
Stat4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39152,026,265 - 52,146,348 (+)NCBIGRCm39mm39
GRCm39 Ensembl152,026,307 - 52,146,348 (+)Ensembl
GRCm38151,987,106 - 52,107,189 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl151,987,148 - 52,107,189 (+)EnsemblGRCm38mm10GRCm38
MGSCv37152,065,088 - 52,164,028 (+)NCBIGRCm37mm9NCBIm37
MGSCv36151,952,789 - 52,051,729 (+)NCBImm8
Celera152,546,764 - 52,645,629 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.67NCBI
Stat4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2949,472,660 - 49,588,540 (-)NCBI
Rnor_6.0 Ensembl954,287,541 - 54,484,533 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0954,340,649 - 54,457,753 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0954,051,154 - 54,167,491 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4946,510,251 - 46,650,076 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1946,511,665 - 46,651,490 (-)NCBI
Celera947,135,713 - 47,243,684 (-)NCBICelera
Cytogenetic Map9q22NCBI
Stat4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554038,061,471 - 8,144,276 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554038,061,471 - 8,144,252 (+)NCBIChiLan1.0ChiLan1.0
STAT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B196,247,617 - 196,394,154 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B196,247,881 - 196,366,011 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B78,331,402 - 78,549,231 (-)NCBIMhudiblu_PPA_v0panPan3
STAT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1371,566,563 - 1,685,378 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl371,566,585 - 1,829,894 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,514,598 - 2,633,404 (-)NCBI
ROS_Cfam_1.0371,453,968 - 1,572,676 (-)NCBI
UMICH_Zoey_3.1371,463,313 - 1,581,898 (-)NCBI
UNSW_CanFamBas_1.0371,431,241 - 1,549,848 (-)NCBI
UU_Cfam_GSD_1.0371,459,885 - 1,578,875 (-)NCBI
Stat4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303149,652,139 - 149,767,224 (-)NCBI
SpeTri2.0NW_0049365067,091,982 - 7,185,938 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1595,653,861 - 95,763,448 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11595,656,206 - 95,764,099 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215106,914,582 - 106,960,243 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.215107,069,138 - 107,073,997 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STAT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11076,553,626 - 76,708,540 (-)NCBI
ChlSab1.1 Ensembl1076,553,606 - 76,674,928 (-)Ensembl
Vero_WHO_p1.0NW_023666040122,773,405 - 122,923,766 (+)NCBI
Stat4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248544,975,724 - 5,056,940 (+)NCBI

Position Markers
RH17878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,894,403 - 191,894,569UniSTSGRCh37
Build 362191,602,648 - 191,602,814RGDNCBI36
Celera2185,489,005 - 185,489,171RGD
Cytogenetic Map2q32.2-q32.3UniSTS
HuRef2183,754,057 - 183,754,223UniSTS
GeneMap99-GB4 RH Map2603.26UniSTS
NCBI RH Map21500.6UniSTS
RH120206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,902,427 - 191,902,742UniSTSGRCh37
Build 362191,610,672 - 191,610,987RGDNCBI36
Celera2185,497,029 - 185,497,344RGD
Cytogenetic Map2q32.2-q32.3UniSTS
HuRef2183,762,081 - 183,762,396UniSTS
TNG Radiation Hybrid Map2105897.0UniSTS
PMC55319P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,897,693 - 191,897,843UniSTSGRCh37
Build 362191,605,938 - 191,606,088RGDNCBI36
Celera2185,492,295 - 185,492,445RGD
Cytogenetic Map2q32.2-q32.3UniSTS
HuRef2183,757,347 - 183,757,497UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1003
Count of miRNA genes:637
Interacting mature miRNAs:702
Transcripts:ENST00000358470, ENST00000392320, ENST00000409995, ENST00000413064, ENST00000432798, ENST00000450994, ENST00000463951, ENST00000470708, ENST00000495326, ENST00000495849
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 adipose tissue appendage entire extraembryonic component
High
Medium 79 595 318 31 697 32 46 9 678 9 357 334 113 4
Low 2234 2176 1304 566 1100 410 3511 1597 2621 343 1007 1174 166 1091 2138 2
Below cutoff 99 213 99 24 79 22 772 584 414 64 81 84 5 645 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB111353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX354560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF966132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC306142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ003482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC461693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF781077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358470   ⟹   ENSP00000351255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,029,576 - 191,151,590 (-)Ensembl
RefSeq Acc Id: ENST00000392320   ⟹   ENSP00000376134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,029,576 - 191,150,994 (-)Ensembl
RefSeq Acc Id: ENST00000409995   ⟹   ENSP00000386288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,131,491 - 191,150,971 (-)Ensembl
RefSeq Acc Id: ENST00000413064   ⟹   ENSP00000403238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,076,227 - 191,151,560 (-)Ensembl
RefSeq Acc Id: ENST00000432798   ⟹   ENSP00000414322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,148,128 - 191,151,595 (-)Ensembl
RefSeq Acc Id: ENST00000450994   ⟹   ENSP00000412397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,146,649 - 191,151,596 (-)Ensembl
RefSeq Acc Id: ENST00000463951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,031,208 - 191,033,607 (-)Ensembl
RefSeq Acc Id: ENST00000470708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,036,178 - 191,041,683 (-)Ensembl
RefSeq Acc Id: ENST00000495326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,076,024 - 191,151,015 (-)Ensembl
RefSeq Acc Id: ENST00000495849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,032,862 - 191,151,013 (-)Ensembl
RefSeq Acc Id: ENST00000647167   ⟹   ENSP00000495153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2191,066,430 - 191,151,555 (-)Ensembl
RefSeq Acc Id: NM_001243835   ⟹   NP_001230764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,151,596 (-)NCBI
HuRef2183,753,956 - 183,875,743 (-)NCBI
CHM1_12191,900,128 - 192,022,113 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003151   ⟹   NP_003142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,150,994 (-)NCBI
GRCh372191,894,302 - 192,037,404 (-)NCBI
Build 362191,602,551 - 191,724,170 (-)NCBI Archive
HuRef2183,753,956 - 183,875,743 (-)NCBI
CHM1_12191,900,128 - 192,021,777 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712719   ⟹   XP_006712782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,150,959 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511705   ⟹   XP_011510007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,172,684 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004784   ⟹   XP_016860273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,038,831 - 191,151,009 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001230764 (Get FASTA)   NCBI Sequence Viewer  
  NP_003142 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712782 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510007 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860273 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05605 (Get FASTA)   NCBI Sequence Viewer  
  AAH31212 (Get FASTA)   NCBI Sequence Viewer  
  AAL12164 (Get FASTA)   NCBI Sequence Viewer  
  AAY15055 (Get FASTA)   NCBI Sequence Viewer  
  AAY24184 (Get FASTA)   NCBI Sequence Viewer  
  ACA01857 (Get FASTA)   NCBI Sequence Viewer  
  ACA01858 (Get FASTA)   NCBI Sequence Viewer  
  ACA01859 (Get FASTA)   NCBI Sequence Viewer  
  ACA01860 (Get FASTA)   NCBI Sequence Viewer  
  ACA01861 (Get FASTA)   NCBI Sequence Viewer  
  ACA01862 (Get FASTA)   NCBI Sequence Viewer  
  ATE87180 (Get FASTA)   NCBI Sequence Viewer  
  BAD92280 (Get FASTA)   NCBI Sequence Viewer  
  BAG61799 (Get FASTA)   NCBI Sequence Viewer  
  BAG62516 (Get FASTA)   NCBI Sequence Viewer  
  BAG62759 (Get FASTA)   NCBI Sequence Viewer  
  BBJ35454 (Get FASTA)   NCBI Sequence Viewer  
  CAD22977 (Get FASTA)   NCBI Sequence Viewer  
  EAX10846 (Get FASTA)   NCBI Sequence Viewer  
  EAX10847 (Get FASTA)   NCBI Sequence Viewer  
  EAX10848 (Get FASTA)   NCBI Sequence Viewer  
  EAX10849 (Get FASTA)   NCBI Sequence Viewer  
  Q14765 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003142   ⟸   NM_003151
- UniProtKB: Q14765 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230764   ⟸   NM_001243835
- UniProtKB: Q14765 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712782   ⟸   XM_006712719
- Peptide Label: isoform X1
- UniProtKB: Q14765 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510007   ⟸   XM_011511705
- Peptide Label: isoform X1
- UniProtKB: Q14765 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860273   ⟸   XM_017004784
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000412397   ⟸   ENST00000450994
RefSeq Acc Id: ENSP00000403238   ⟸   ENST00000413064
RefSeq Acc Id: ENSP00000376134   ⟸   ENST00000392320
RefSeq Acc Id: ENSP00000414322   ⟸   ENST00000432798
RefSeq Acc Id: ENSP00000386288   ⟸   ENST00000409995
RefSeq Acc Id: ENSP00000495153   ⟸   ENST00000647167
RefSeq Acc Id: ENSP00000351255   ⟸   ENST00000358470
Protein Domains
PFU   SH2   STAT_int

Promoters
RGD ID:6862356
Promoter ID:EPDNEW_H4343
Type:initiation region
Name:STAT4_1
Description:signal transducer and activator of transcription 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4344  EPDNEW_H4345  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,150,994 - 191,151,054EPDNEW
RGD ID:6862358
Promoter ID:EPDNEW_H4344
Type:initiation region
Name:STAT4_3
Description:signal transducer and activator of transcription 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4343  EPDNEW_H4345  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,151,596 - 191,151,656EPDNEW
RGD ID:6862360
Promoter ID:EPDNEW_H4345
Type:initiation region
Name:STAT4_2
Description:signal transducer and activator of transcription 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4343  EPDNEW_H4344  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,167,918 - 191,167,978EPDNEW
RGD ID:6798280
Promoter ID:HG_KWN:36416
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000335595
Position:
Human AssemblyChrPosition (strand)Source
Build 362191,614,561 - 191,615,061 (-)MPROMDB
RGD ID:6798284
Promoter ID:HG_KWN:36420
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000358470,   ENST00000409995,   OTTHUMT00000335586,   OTTHUMT00000335588,   OTTHUMT00000335589,   OTTHUMT00000335590,   OTTHUMT00000335593,   UC002USP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362191,723,714 - 191,724,214 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003151.4(STAT4):c.274-23582= single nucleotide variant Systemic lupus erythematosus 11 [RCV000024612] Chr2:191099907 [GRCh38]
Chr2:191964633 [GRCh37]
Chr2:2q32.2
risk factor
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
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
NM_003151.3(STAT4):c.215C>T (p.Ser72Phe) single nucleotide variant Malignant melanoma [RCV000065333] Chr2:191146671 [GRCh38]
Chr2:192011397 [GRCh37]
Chr2:191719642 [NCBI36]
Chr2:2q32.3
not provided
NM_003151.3(STAT4):c.1640C>T (p.Ser547Leu) single nucleotide variant Malignant melanoma [RCV000060431] Chr2:191033986 [GRCh38]
Chr2:191898712 [GRCh37]
Chr2:191606957 [NCBI36]
Chr2:2q32.2
not provided
NM_003151.3(STAT4):c.1620+1G>A single nucleotide variant Malignant melanoma [RCV000060432] Chr2:191034547 [GRCh38]
Chr2:191899273 [GRCh37]
Chr2:191607518 [NCBI36]
Chr2:2q32.2
not provided
NM_003151.3(STAT4):c.1252-5505C>T single nucleotide variant Lung cancer [RCV000091771] Chr2:191046653 [GRCh38]
Chr2:191911379 [GRCh37]
Chr2:2q32.2
uncertain significance
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 2q31.3-32.3(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 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
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
NM_003151.4(STAT4):c.1113-4C>T single nucleotide variant not provided [RCV001520909]|not specified [RCV000455357] Chr2:191058115 [GRCh38]
Chr2:191922841 [GRCh37]
Chr2:2q32.2
benign
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 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
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 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 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2q32.2-32.3(chr2:191683388-191913799)x3 copy number gain not provided [RCV000740821] Chr2:191683388..191913799 [GRCh37]
Chr2:2q32.2-32.3
benign
GRCh37/hg19 2q32.3(chr2:191917235-191954852)x1 copy number loss not provided [RCV000740822] Chr2:191917235..191954852 [GRCh37]
Chr2:2q32.3
benign
GRCh37/hg19 2q32.3(chr2:191995361-191998349)x1 copy number loss not provided [RCV000740823] Chr2:191995361..191998349 [GRCh37]
Chr2:2q32.3
benign
NM_003151.4(STAT4):c.343A>G (p.Ile115Val) single nucleotide variant not provided [RCV000917583] Chr2:191076256 [GRCh38]
Chr2:191940982 [GRCh37]
Chr2:2q32.2
likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_003151.4(STAT4):c.1515C>T (p.Tyr505=) single nucleotide variant not provided [RCV000901219] Chr2:191036219 [GRCh38]
Chr2:191900945 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.318A>G (p.Ser106=) single nucleotide variant not provided [RCV000972386] Chr2:191076281 [GRCh38]
Chr2:191941007 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.507C>T (p.Asp169=) single nucleotide variant not provided [RCV000883908] Chr2:191069730 [GRCh38]
Chr2:191934456 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.765C>T (p.Leu255=) single nucleotide variant not provided [RCV000908471] Chr2:191064824 [GRCh38]
Chr2:191929550 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.522G>A (p.Arg174=) single nucleotide variant not provided [RCV000979287] Chr2:191069715 [GRCh38]
Chr2:191934441 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1476T>C (p.Ser492=) single nucleotide variant not provided [RCV000879376] Chr2:191036258 [GRCh38]
Chr2:191900984 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.390C>T (p.Ser130=) single nucleotide variant not provided [RCV000920120] Chr2:191073173 [GRCh38]
Chr2:191937899 [GRCh37]
Chr2:2q32.2
likely 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
NM_003151.4(STAT4):c.816G>A (p.Leu272=) single nucleotide variant not provided [RCV000892266] Chr2:191062887 [GRCh38]
Chr2:191927613 [GRCh37]
Chr2:2q32.2
likely benign
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
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_003151.4(STAT4):c.1596C>T (p.His532=) single nucleotide variant not provided [RCV000896371] Chr2:191034572 [GRCh38]
Chr2:191899298 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1284C>T (p.Ser428=) single nucleotide variant not provided [RCV000927695] Chr2:191041116 [GRCh38]
Chr2:191905842 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1338C>A (p.Thr446=) single nucleotide variant not provided [RCV000888131] Chr2:191039295 [GRCh38]
Chr2:191904021 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1914C>T (p.Phe638=) single nucleotide variant not provided [RCV000939017] Chr2:191033088 [GRCh38]
Chr2:191897814 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.114T>C (p.Ile38=) single nucleotide variant not provided [RCV000886432] Chr2:191148090 [GRCh38]
Chr2:192012816 [GRCh37]
Chr2:2q32.3
benign
NM_003151.4(STAT4):c.1035-8C>T single nucleotide variant not provided [RCV000930819] Chr2:191058777 [GRCh38]
Chr2:191923503 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.782+7C>T single nucleotide variant not provided [RCV000908971] Chr2:191064800 [GRCh38]
Chr2:191929526 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1962T>C (p.Pro654=) single nucleotide variant not provided [RCV000936000] Chr2:191033040 [GRCh38]
Chr2:191897766 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.162G>A (p.Thr54=) single nucleotide variant not provided [RCV000935338] Chr2:191146724 [GRCh38]
Chr2:192011450 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.782+7C>G single nucleotide variant not provided [RCV000911776] Chr2:191064800 [GRCh38]
Chr2:191929526 [GRCh37]
Chr2:2q32.2
likely benign
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1
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
NM_003151.4(STAT4):c.1952A>T (p.Glu651Val) single nucleotide variant not provided [RCV001341751] Chr2:191033050 [GRCh38]
Chr2:191897776 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.383A>T (p.Glu128Val) single nucleotide variant not provided [RCV001326416] Chr2:191073180 [GRCh38]
Chr2:191937906 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV001344837] Chr2:191064867 [GRCh38]
Chr2:191929593 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.274-13dup duplication not provided [RCV001523143] Chr2:191076328..191076329 [GRCh38]
Chr2:191941054..191941055 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1620+12C>T single nucleotide variant not provided [RCV001516406] Chr2:191034536 [GRCh38]
Chr2:191899262 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.864T>C (p.Tyr288=) single nucleotide variant not provided [RCV001520922] Chr2:191062839 [GRCh38]
Chr2:191927565 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1715+15A>G single nucleotide variant not provided [RCV001447343] Chr2:191033896 [GRCh38]
Chr2:191898622 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1336-19dup duplication not provided [RCV001509882] Chr2:191039310..191039311 [GRCh38]
Chr2:191904036..191904037 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.783-9G>A single nucleotide variant not provided [RCV001460009] Chr2:191062929 [GRCh38]
Chr2:191927655 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1053A>C (p.Pro351=) single nucleotide variant not provided [RCV001500972] Chr2:191058751 [GRCh38]
Chr2:191923477 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.805C>A (p.Leu269Ile) single nucleotide variant not provided [RCV001514135] Chr2:191062898 [GRCh38]
Chr2:191927624 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.941+15A>T single nucleotide variant not provided [RCV001513276] Chr2:191062747 [GRCh38]
Chr2:191927473 [GRCh37]
Chr2:2q32.2
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11365 AgrOrtholog
COSMIC STAT4 COSMIC
Ensembl Genes ENSG00000138378 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351255 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376134 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386288 UniProtKB/TrEMBL
  ENSP00000403238 UniProtKB/TrEMBL
  ENSP00000412397 UniProtKB/TrEMBL
  ENSP00000414322 UniProtKB/TrEMBL
  ENSP00000495153 UniProtKB/TrEMBL
Ensembl Transcript ENST00000358470 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392320 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409995 UniProtKB/TrEMBL
  ENST00000413064 UniProtKB/TrEMBL
  ENST00000432798 UniProtKB/TrEMBL
  ENST00000450994 UniProtKB/TrEMBL
  ENST00000647167 UniProtKB/TrEMBL
Gene3D-CATH 1.10.532.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138378 GTEx
HGNC ID HGNC:11365 ENTREZGENE
Human Proteome Map STAT4 Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAA_fam_Ub-bd_PFU UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT4_SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_TF_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_TF_coiled-coil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_TF_DNA-bd_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_TF_prot_interaction UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6775 UniProtKB/Swiss-Prot
NCBI Gene 6775 ENTREZGENE
OMIM 600558 OMIM
  612253 OMIM
PANTHER PTHR11801 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11801:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_int UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36185 PharmGKB
PROSITE PFU UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART STAT_int UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47655 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A291B130_HUMAN UniProtKB/TrEMBL
  A0A2R8Y693_HUMAN UniProtKB/TrEMBL
  A0A510GAL5_HUMAN UniProtKB/TrEMBL
  B7SIX5_HUMAN UniProtKB/TrEMBL
  C9JFG0_HUMAN UniProtKB/TrEMBL
  C9JM11_HUMAN UniProtKB/TrEMBL
  D3DPI9_HUMAN UniProtKB/TrEMBL
  E9PBE2_HUMAN UniProtKB/TrEMBL
  E9PG69_HUMAN UniProtKB/TrEMBL
  Q14765 ENTREZGENE
  Q53RU2_HUMAN UniProtKB/TrEMBL
  Q53S87_HUMAN UniProtKB/TrEMBL
  STAT4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96NZ6 UniProtKB/Swiss-Prot