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 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:45,335,328-45,457,030)mRNA (may differ from genome)Protein (467 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.70 RPKM in Thyroid
Total median expression: 240.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -151.90352-0.432 Picture PostScript Text

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
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0042803 protein homodimerization activity
GO:0046332 SMAD binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001657 ureteric bud development
GO:0001701 in utero embryonic development
GO:0001706 endoderm formation
GO:0001707 mesoderm formation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007369 gastrulation
GO:0007389 pattern specification process
GO:0007492 endoderm development
GO:0007507 heart development
GO:0008285 negative regulation of cell proliferation
GO:0009749 response to glucose
GO:0009791 post-embryonic development
GO:0009880 embryonic pattern specification
GO:0009952 anterior/posterior pattern specification
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030073 insulin secretion
GO:0030324 lung development
GO:0030325 adrenal gland development
GO:0031016 pancreas development
GO:0035265 organ growth
GO:0035556 intracellular signal transduction
GO:0042060 wound healing
GO:0045165 cell fate commitment
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048340 paraxial mesoderm morphogenesis
GO:0048589 developmental growth
GO:0048617 embryonic foregut morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0051098 regulation of binding
GO:0060039 pericardium development
GO:0060395 SMAD protein signal transduction

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0032991 macromolecular complex


-  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.2
UCSC ID: ENST00000262160.11_12
RefSeq 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
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.