Human Gene TGFA (ENST00000295400.11_11) from GENCODE V47lift37
  Description: transforming growth factor alpha, transcript variant 1 (from RefSeq NM_003236.4)
Gencode Transcript: ENST00000295400.11_11
Gencode Gene: ENSG00000163235.16_16
Transcript (Including UTRs)
   Position: hg19 chr2:70,674,416-70,780,958 Size: 106,543 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr2:70,677,991-70,780,899 Size: 102,909 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:70,674,416-70,780,958)mRNA (may differ from genome)Protein (160 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TGFA_HUMAN
DESCRIPTION: RecName: Full=Protransforming growth factor alpha; Contains: RecName: Full=Transforming growth factor alpha; Short=TGF-alpha; AltName: Full=EGF-like TGF; Short=ETGF; AltName: Full=TGF type 1; Flags: Precursor;
FUNCTION: TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar.
SUBUNIT: Interacts with the PDZ domains of MAGI3, SDCBP and SNTA1. The interaction with SDCBP, is required for the targeting to the cell surface. In the endoplasmic reticulum, in its immature form (i.e. with a prosegment and lacking full N-glycosylation), interacts with CNIH. In the Golgi apparatus, may form a complex with CNIH and GORASP2. Interacts (via cytoplasmic C-terminal domain) with NKD2.
SUBCELLULAR LOCATION: Transforming growth factor alpha: Secreted, extracellular space.
SUBCELLULAR LOCATION: Protransforming growth factor alpha: Cell membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Isoform 1, isoform 3 and isoform 4 are expressed in keratinocytes and tumor-derived cell lines.
SIMILARITY: Contains 1 EGF-like domain.

-  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: TGFA
Diseases sorted by gene-association score: tooth agenesis* (115), cleft lip (18), pancreatic cancer (6), cleft lip/palate (6), bone marrow necrosis (5), bazex syndrome (4), endometrial cancer (4), breast cancer (4), prostate cancer (3), renal cell carcinoma (3), cleft palate, isolated (3), lung cancer (3), warthin tumor (2), hepatic adenoma, somatic (2), hypereosinophilic syndrome, idiopathic, resistant to imatinib (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 10.94 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 115.91 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 -33.8059-0.573 Picture PostScript Text
3' UTR -1047.703575-0.293 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
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR015497 - EGF_rcpt_ligand

SCOP Domains:
161084 - MAPEG domain-like
57196 - EGF/Laminin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1GK5 - NMR 1MOX - X-ray MuPIT 1YUF - NMR MuPIT 1YUG - NMR MuPIT 2TGF - NMR MuPIT 3E50 - X-ray MuPIT 3TGF - NMR MuPIT 4TGF - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P01135
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005154 epidermal growth factor receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity

Biological Process:
GO:0000187 activation of MAPK activity
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0008283 cell proliferation
GO:0045741 positive regulation of epidermal growth factor-activated receptor activity
GO:0045840 positive regulation of mitotic nuclear division
GO:0048208 COPII vesicle coating
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051781 positive regulation of cell division

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  X70340 - H.sapiens mRNA for transforming growth factor alpha.
LP895408 - Sequence 272 from Patent EP3253886.
AF149096 - Homo sapiens transforming growth factor-alpha variant I mRNA, alternatively spliced product, complete cds.
AF149097 - Homo sapiens transforming growth factor-alpha variant I mRNA, alternatively spliced product, complete cds.
AF149098 - Homo sapiens transforming growth factor-alpha variant II mRNA, alternatively spliced product, complete cds.
BC005308 - Homo sapiens transforming growth factor, alpha, mRNA (cDNA clone MGC:12380 IMAGE:3828239), complete cds.
K03222 - Human (cell line 1027 F57) transforming growth factor-alpha mRNA, complete cds.
M31172 - Human transforming growth factor-alpha mRNA, complete cds.
E02045 - cDNA encoding human transforming growth factor-alpha,TGF-alpha.
AK309220 - Homo sapiens cDNA, FLJ99261.
AK309066 - Homo sapiens cDNA, FLJ99107.
AB590465 - Synthetic construct DNA, clone: pFN21AE1129, Homo sapiens TGFA gene for transforming growth factor, alpha, without stop codon, in Flexi system.
CU675103 - Synthetic construct Homo sapiens gateway clone IMAGE:100016717 5' read TGFA mRNA.
KJ892270 - Synthetic construct Homo sapiens clone ccsbBroadEn_01664 TGFA gene, encodes complete protein.
BT006833 - Homo sapiens transforming growth factor, alpha mRNA, complete cds.
AK290151 - Homo sapiens cDNA FLJ76379 complete cds, highly similar to Homo sapiens transforming growth factor, alpha (TGFA), mRNA.
AK312899 - Homo sapiens cDNA, FLJ93345.
JD329607 - Sequence 310631 from Patent EP1572962.
HW241593 - JP 2013511559-A/11: Modulation of Epidermal Growth Factor Receptor Ligands.
JB090913 - Sequence 11 from Patent EP2504014.
JD410448 - Sequence 391472 from Patent EP1572962.
JD519604 - Sequence 500628 from Patent EP1572962.
JD555059 - Sequence 536083 from Patent EP1572962.
JD496369 - Sequence 477393 from Patent EP1572962.
JD465760 - Sequence 446784 from Patent EP1572962.
JD299279 - Sequence 280303 from Patent EP1572962.
JD429768 - Sequence 410792 from Patent EP1572962.
JD562547 - Sequence 543571 from Patent EP1572962.
JD133916 - Sequence 114940 from Patent EP1572962.
JD519954 - Sequence 500978 from Patent EP1572962.
JD251534 - Sequence 232558 from Patent EP1572962.
JD429850 - Sequence 410874 from Patent EP1572962.
JD251605 - Sequence 232629 from Patent EP1572962.
JD071232 - Sequence 52256 from Patent EP1572962.
JD350866 - Sequence 331890 from Patent EP1572962.
JD079233 - Sequence 60257 from Patent EP1572962.
JD050277 - Sequence 31301 from Patent EP1572962.
JD067333 - Sequence 48357 from Patent EP1572962.
JD564925 - Sequence 545949 from Patent EP1572962.
JD566432 - Sequence 547456 from Patent EP1572962.
JD560337 - Sequence 541361 from Patent EP1572962.
JD093307 - Sequence 74331 from Patent EP1572962.
JD126357 - Sequence 107381 from Patent EP1572962.
HW241592 - JP 2013511559-A/10: Modulation of Epidermal Growth Factor Receptor Ligands.
JB090912 - Sequence 10 from Patent EP2504014.
JD090738 - Sequence 71762 from Patent EP1572962.
JD048462 - Sequence 29486 from Patent EP1572962.
JD306107 - Sequence 287131 from Patent EP1572962.
CQ873704 - Sequence 123 from Patent WO2004076622.
DD413541 - Regulation of Mammalian Cells.
JD386254 - Sequence 367278 from Patent EP1572962.
HW241591 - JP 2013511559-A/9: Modulation of Epidermal Growth Factor Receptor Ligands.
JB090911 - Sequence 9 from Patent EP2504014.
JD483808 - Sequence 464832 from Patent EP1572962.
JD424960 - Sequence 405984 from Patent EP1572962.
JD490760 - Sequence 471784 from Patent EP1572962.
JD305554 - Sequence 286578 from Patent EP1572962.
HW241590 - JP 2013511559-A/8: Modulation of Epidermal Growth Factor Receptor Ligands.
JB090910 - Sequence 8 from Patent EP2504014.
JD363734 - Sequence 344758 from Patent EP1572962.
HW241589 - JP 2013511559-A/7: Modulation of Epidermal Growth Factor Receptor Ligands.
JB090909 - Sequence 7 from Patent EP2504014.
JD094639 - Sequence 75663 from Patent EP1572962.
JD261555 - Sequence 242579 from Patent EP1572962.
JD287363 - Sequence 268387 from Patent EP1572962.
JD137035 - Sequence 118059 from Patent EP1572962.
JD256245 - Sequence 237269 from Patent EP1572962.
JD441654 - Sequence 422678 from Patent EP1572962.
JD330967 - Sequence 311991 from Patent EP1572962.
JD553873 - Sequence 534897 from Patent EP1572962.
JD528660 - Sequence 509684 from Patent EP1572962.
JD474471 - Sequence 455495 from Patent EP1572962.
JD209598 - Sequence 190622 from Patent EP1572962.
JD565540 - Sequence 546564 from Patent EP1572962.
JD442298 - Sequence 423322 from Patent EP1572962.
AY548763 - Homo sapiens transforming growth factor alpha mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P01135 (Reactome details) participates in the following event(s):

R-HSA-5694445 CNIH1 binds TFGA and AREG precursors
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-5694530 Cargo concentration in the ER
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-8939211 ESR-mediated signaling
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-212436 Generic Transcription Pathway
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-162582 Signal Transduction
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-74160 Gene expression (Transcription)
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8K286, ENST00000295400.1, ENST00000295400.10, ENST00000295400.2, ENST00000295400.3, ENST00000295400.4, ENST00000295400.5, ENST00000295400.6, ENST00000295400.7, ENST00000295400.8, ENST00000295400.9, NM_003236, P01135, Q15577, Q53SK7, Q9BS56, Q9UEI3, Q9UKM1, Q9UKM2, Q9UKM3, TGFA_HUMAN, uc317llj.1, uc317llj.2
UCSC ID: ENST00000295400.11_11
RefSeq Accession: NM_003236.4
Protein: P01135 (aka TGFA_HUMAN)

-  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.