Human Gene SMAD2 (ENST00000262160.11_12) from GENCODE V47lift37
Description: SMAD family member 2, transcript variant 1 (from RefSeq NM_005901.6)
Gencode Transcript: ENST00000262160.11_12
Gencode Gene: ENSG00000175387.16_15
Transcript (Including UTRs)
Position: hg19 chr18:45,335,328-45,457,030 Size: 121,703 Total Exon Count: 11 Strand: -
Coding Region
Position: hg19 chr18:45,368,198-45,423,127 Size: 54,930 Coding Exon Count: 10
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: SMAD2
Diseases sorted by gene-association score: smad2-related thoracic aortic aneurysms and aortic dissections * (100), keloids (12), ureteral disease (12), hypertrophic scars (12), buschke-ollendorff syndrome (11), melorheostosis (10), pauci-immune glomerulonephritis (9), osteopoikilosis (8), clear cell adenocarcinoma (7), pancreatic cancer (7), vitreous disease (7), penile disease (7), chagas disease (7), renal fibrosis (6), nephrogenic systemic fibrosis (6), colorectal cancer (6), diffuse pulmonary fibrosis (5), urinary tract obstruction (5), hereditary spastic paraplegia 3a (4), hypochondrogenesis (4), charcot-marie-tooth disease, type 1c (3), breast cancer (2), pulmonary fibrosis, idiopathic (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
C059514
resveratrol
C459179
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide
D002251
Carbon Tetrachloride
D004317
Doxorubicin
D004997
Ethinyl Estradiol
D008070
Lipopolysaccharides
D019821
Simvastatin
D014212
Tretinoin
C006780
bisphenol A
C057693
troglitazone
C049325
1,2-dithiol-3-thione
C028474
1,4-bis(2-(3,5-dichloropyridyloxy))benzene
D015058
1-Naphthylisothiocyanate
C097240
15-deoxy-delta(12,14)-prostaglandin J2
C029497
2,3-bis(3'-hydroxybenzyl)butyrolactone
D015073
2-Acetylaminofluorene
D015123
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
D000082
Acetaminophen
D016573
Agrochemicals
D017311
Amlodipine
D000643
Ammonium Chloride
D001149
Arsenates
D017638
Asbestos, Crocidolite
D001280
Atrazine
D002994
Clofibrate
D019327
Copper Sulfate
D003375
Coumestrol
D016572
Cyclosporine
D004052
Diethylnitrosamine
D004054
Diethylstilbestrol
D004128
Dimethylnitrosamine
D004656
Enalapril
D004958
Estradiol
D000431
Ethanol
D005038
Ethylnitrosourea
D005047
Etoposide
D005839
Gentamicins
D005944
Glucosamine
D005947
Glucose
D056604
Grape Seed Extract
D006540
Herbicides
D006861
Hydrogen Peroxide
C487834
Leu-Ser-Lys-Leu peptide
D018021
Lithium Chloride
D008558
Melphalan
D008628
Mercury
D008731
Methoxychlor
D008769
Methylnitronitrosoguanidine
D008942
Mitoxantrone
D010100
Oxygen
D010634
Phenobarbital
D010656
Phenylephrine
D010795
Phthalic Acids
D011374
Progesterone
D012835
Silver Nitrate
D012999
Soman
D013311
Streptozocin
D013629
Tamoxifen
D013749
Tetrachlorodibenzodioxin
D013755
Tetradecanoylphorbol Acetate
D013806
Theophylline
D013853
Thioacetamide
D013893
Thiram
D014028
Tobacco Smoke Pollution
D014241
Trichloroethylene
D014635
Valproic Acid
D014640
Vancomycin
C521629
Wen-pi-tang-Hab-Wu-ling-san
D015032
Zinc
C058956
acteoside
C044946
benazepril
C070515
bisindolylmaleimide I
C012843
cinnamic aldehyde
C018021
cobaltous chloride
C007946
hispidin
C005499
honokiol
C081309
irbesartan
C551631
isoangustone A
C005219
methyl cellosolve
C007350
nitrofen
C084656
paricalcitol
C035988
procymidone
C005581
protocatechualdehyde
C089730
rosiglitazone
C496827
salubrinal
C017947
sodium arsenite
C471405
sorafenib
C061133
tamibarotene
C025643
vinclozolin
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR013790 - Dwarfin
IPR003619 - MAD_homology1_Dwarfin-type
IPR013019 - MAD_homology_MH1
IPR017855 - SMAD_dom-like
IPR001132 - SMAD_dom_Dwarfin-type
IPR008984 - SMAD_FHA_domain
Pfam Domains: PF03165 - MH1 domain
PF03166 - MH2 domain
SCOP Domains: 49879 - SMAD/FHA domain
56366 - SMAD MH1 domain
ModBase Predicted Comparative 3D Structure on Q53XR6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
JD308266 - Sequence 289290 from Patent EP1572962.JD435515 - Sequence 416539 from Patent EP1572962.JD435514 - Sequence 416538 from Patent EP1572962.DL492524 - Novel nucleic acids.JD141899 - Sequence 122923 from Patent EP1572962.JD207791 - Sequence 188815 from Patent EP1572962.JD411830 - Sequence 392854 from Patent EP1572962.JD411831 - Sequence 392855 from Patent EP1572962.JD417596 - Sequence 398620 from Patent EP1572962.JD208582 - Sequence 189606 from Patent EP1572962.JD488590 - Sequence 469614 from Patent EP1572962.JD110525 - Sequence 91549 from Patent EP1572962.JD158733 - Sequence 139757 from Patent EP1572962.JD344175 - Sequence 325199 from Patent EP1572962.JD481316 - Sequence 462340 from Patent EP1572962.JD211431 - Sequence 192455 from Patent EP1572962.DQ575152 - Homo sapiens piRNA piR-43264, complete sequence.DQ577359 - Homo sapiens piRNA piR-45471, complete sequence.JD306515 - Sequence 287539 from Patent EP1572962.JD085749 - Sequence 66773 from Patent EP1572962.JD527363 - Sequence 508387 from Patent EP1572962.DQ587652 - Homo sapiens piRNA piR-54764, complete sequence.DQ587653 - Homo sapiens piRNA piR-54765, complete sequence.LF211101 - JP 2014500723-A/18604: Polycomb-Associated Non-Coding RNAs.LF344001 - JP 2014500723-A/151504: Polycomb-Associated Non-Coding RNAs.LF344000 - JP 2014500723-A/151503: Polycomb-Associated Non-Coding RNAs.JD037352 - Sequence 18376 from Patent EP1572962.JD330833 - Sequence 311857 from Patent EP1572962.LF343999 - JP 2014500723-A/151502: Polycomb-Associated Non-Coding RNAs.LF343998 - JP 2014500723-A/151501: Polycomb-Associated Non-Coding RNAs.HW061227 - JP 2012529430-A/102: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.JB252035 - Sequence 102 from Patent EP2440214.LP764934 - Sequence 102 from Patent EP3276004.HW061228 - JP 2012529430-A/103: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.JB252036 - Sequence 103 from Patent EP2440214.LP764935 - Sequence 103 from Patent EP3276004.HW061229 - JP 2012529430-A/104: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.JB252037 - Sequence 104 from Patent EP2440214.LP764936 - Sequence 104 from Patent EP3276004.AY134745 - Homo sapiens medulloblastoma antigen MU-MB-50.13 mRNA, complete cds.AK126373 - Homo sapiens cDNA FLJ44409 fis, clone TUTER2002356.JD087203 - Sequence 68227 from Patent EP1572962.JD262484 - Sequence 243508 from Patent EP1572962.JD562070 - Sequence 543094 from Patent EP1572962.JD556856 - Sequence 537880 from Patent EP1572962.JD234056 - Sequence 215080 from Patent EP1572962.JD234055 - Sequence 215079 from Patent EP1572962.JD550230 - Sequence 531254 from Patent EP1572962.JD562069 - Sequence 543093 from Patent EP1572962.JD234052 - Sequence 215076 from Patent EP1572962.JD417361 - Sequence 398385 from Patent EP1572962.JD026495 - Sequence 7519 from Patent EP1572962.JD022182 - Sequence 3206 from Patent EP1572962.BC025699 - Homo sapiens SMAD family member 2, mRNA (cDNA clone MGC:34440 IMAGE:5221801), complete cds.BC014840 - Homo sapiens SMAD family member 2, mRNA (cDNA clone MGC:22139 IMAGE:4449540), complete cds.U68018 - Human mad protein homolog (hMAD-2) mRNA, complete cds.JD301861 - Sequence 282885 from Patent EP1572962.JD553995 - Sequence 535019 from Patent EP1572962.U59911 - Human chromosome 18 Mad homolog JV18-1 mRNA, complete cds.JD233080 - Sequence 214104 from Patent EP1572962.JD085057 - Sequence 66081 from Patent EP1572962.JD083966 - Sequence 64990 from Patent EP1572962.JD245269 - Sequence 226293 from Patent EP1572962.AF027964 - Homo sapiens MAD-related protein Smad2 mRNA, complete cds.JD284158 - Sequence 265182 from Patent EP1572962.U65019 - Human MAD-related protein 2 (MADR2) mRNA, complete cds.AK312963 - Homo sapiens cDNA, FLJ93422, Homo sapiens MAD, mothers against decapentaplegic homolog 2(Drosophila) (MADH2), mRNA.BT007422 - Homo sapiens MAD, mothers against decapentaplegic homolog 2 (Drosophila) mRNA, complete cds.DQ891501 - Synthetic construct clone IMAGE:100004131; FLH177530.01X; RZPDo839B03126D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.DQ893532 - Synthetic construct clone IMAGE:100006162; FLH164162.01X; RZPDo839D05162D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.KJ891567 - Synthetic construct Homo sapiens clone ccsbBroadEn_00961 SMAD2 gene, encodes complete protein.DQ893746 - Synthetic construct Homo sapiens clone IMAGE:100008206; FLH164158.01L; RZPDo839D05161D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.DQ894693 - Synthetic construct Homo sapiens clone IMAGE:100009153; FLH177526.01L; RZPDo839B03125D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.AB463263 - Synthetic construct DNA, clone: pF1KB9891, Homo sapiens SMAD2 gene for SMAD family member 2, without stop codon, in Flexi system.AK299218 - Homo sapiens cDNA FLJ50177 complete cds, highly similar to Mothers against decapentaplegic homolog 2(SMAD 2).JD130666 - Sequence 111690 from Patent EP1572962.JD168559 - Sequence 149583 from Patent EP1572962.JD126992 - Sequence 108016 from Patent EP1572962.JD477519 - Sequence 458543 from Patent EP1572962.MA579578 - JP 2018138019-A/151504: Polycomb-Associated Non-Coding RNAs.MA579577 - JP 2018138019-A/151503: Polycomb-Associated Non-Coding RNAs.MA579576 - JP 2018138019-A/151502: Polycomb-Associated Non-Coding RNAs.MA579575 - JP 2018138019-A/151501: Polycomb-Associated Non-Coding RNAs.MA446678 - JP 2018138019-A/18604: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_tgfbPathway - TGF beta signaling pathway
Other Names for This Gene
Alternate Gene Symbols: ENST00000262160.1, ENST00000262160.10, ENST00000262160.2, ENST00000262160.3, ENST00000262160.4, ENST00000262160.5, ENST00000262160.6, ENST00000262160.7, ENST00000262160.8, ENST00000262160.9, hCG_22544 , NM_005901, Q53XR6, Q53XR6_HUMAN, SMAD2 , uc317gxl.1, uc317gxl.2UCSC ID: ENST00000262160.11_12RefSeq Accession: NM_005901.6
Protein: Q53XR6
GeneReviews for This Gene
GeneReviews article(s) related to gene SMAD2:loeys-dietz (Loeys-Dietz Syndrome)taa (Heritable Thoracic Aortic Disease Overview)
Gene Model Information
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.