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Aliases for TGFA Gene

Aliases for TGFA Gene

  • Transforming Growth Factor Alpha 2 3 5
  • Protransforming Growth Factor Alpha 3
  • Transforming Growth Factor, Alpha 2
  • TGF-Alpha 3
  • TFGA 3

External Ids for TGFA Gene

Previous GeneCards Identifiers for TGFA Gene

  • GC02M070683
  • GC02M070885
  • GC02M070648
  • GC02M070586
  • GC02M070674

Summaries for TGFA Gene

Entrez Gene Summary for TGFA Gene

  • This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for TGFA Gene

TGFA (Transforming Growth Factor Alpha) is a Protein Coding gene. Diseases associated with TGFA include Tooth Agenesis and Cleft Lip. Among its related pathways are Glioma and Activation of cAMP-Dependent PKA. GO annotations related to this gene include growth factor activity and epidermal growth factor receptor binding. An important paralog of this gene is BTC.

UniProtKB/Swiss-Prot for TGFA Gene

  • 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.

Gene Wiki entry for TGFA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFA Gene

Genomics for TGFA Gene

Regulatory Elements for TGFA Gene

Enhancers for TGFA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F070470 0.2 Ensembl 47.8 +81.1 81093 5.8 KLF17 MAX YBX1 FEZF1 PLRG1 ZIC2 ZNF366 POLR2A PATZ1 PRDM10 TGFA MPHOSPH10 TGFA-IT1 GC02M070401
GH02F070480 0.5 Ensembl 41.1 +74.0 73993 0.4 ATF3 CEBPB TGFA TGFA-IT1 GC02M070401
GH02F070370 1.1 ENCODE 30.5 +182.3 182342 2.4 ZNF146 RFX1 JUN BHLHE40 ZMYM3 CEBPB MAX EP300 GABPA RFX5 TGFA ADD2 BRD7P6 LOC105374793
GH02F070380 1.4 FANTOM5 Ensembl ENCODE 21 +172.2 172152 3.0 JUND GATA3 TAF1 HSF1 MAX FOS ZBTB40 TGFA TEX261 ANKRD53 LOC105374793 BRD7P6
GH02F070411 0.7 ENCODE 18.4 +141.6 141567 2.7 SCRT2 TGFA VAX2 GC02M070401 TGFA-IT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TGFA on UCSC Golden Path with GeneCards custom track

Promoters for TGFA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000592475 593 2001 ARID4B DMAP1 ZNF48 GLIS2 ZNF143 FOS SP3 MXD4 MIER2 REST

Genomic Location for TGFA Gene

Chromosome:
2
Start:
70,447,280 bp from pter
End:
70,554,193 bp from pter
Size:
106,914 bases
Orientation:
Minus strand

Genomic View for TGFA Gene

Genes around TGFA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFA Gene

Proteins for TGFA Gene

  • Protein details for TGFA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01135-TGFA_HUMAN
    Recommended name:
    Protransforming growth factor alpha
    Protein Accession:
    P01135
    Secondary Accessions:
    • A8K286
    • Q15577
    • Q53SK7
    • Q9BS56
    • Q9UEI3
    • Q9UKM1
    • Q9UKM2
    • Q9UKM3

    Protein attributes for TGFA Gene

    Size:
    160 amino acids
    Molecular mass:
    17006 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for TGFA Gene

    Alternative splice isoforms for TGFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFA Gene

Post-translational modifications for TGFA Gene

No data available for DME Specific Peptides for TGFA Gene

Domains & Families for TGFA Gene

Protein Domains for TGFA Gene

Graphical View of Domain Structure for InterPro Entry

P01135

UniProtKB/Swiss-Prot:

TGFA_HUMAN :
  • Contains 1 EGF-like domain.
Domain:
  • Contains 1 EGF-like domain.
genes like me logo Genes that share domains with TGFA: view

No data available for Gene Families for TGFA Gene

Function for TGFA Gene

Molecular function for TGFA Gene

GENATLAS Biochemistry:
transforming growth factor,alpha,17kDa,expressed in macrophages,brain cells,keratinocyte,also expressed at high levels in the epithelial tissue of the medial edge of the palatal shelves at the time of shelf fusion in mice,epidermal growth factor family,involved in mitogenesis and angiogenenesis,potentially mutated in cleft lip with or without cleft palate
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IEA --
GO:0005154 epidermal growth factor receptor binding IEA,IDA 11278323
GO:0005515 protein binding IPI 12297049
GO:0008083 growth factor activity IEA,IDA 11278323
genes like me logo Genes that share ontologies with TGFA: view
genes like me logo Genes that share phenotypes with TGFA: view

Human Phenotype Ontology for TGFA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFA Gene

MGI Knock Outs for TGFA:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TGFA Gene

Localization for TGFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFA Gene

Transforming growth factor alpha: Secreted, extracellular space.
Protransforming growth factor alpha: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGFA Gene COMPARTMENTS Subcellular localization image for TGFA gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for TGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IDA 12743035
GO:0005634 nucleus IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with TGFA: view

Pathways & Interactions for TGFA Gene

genes like me logo Genes that share pathways with TGFA: view

SIGNOR curated interactions for TGFA Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 11278323
GO:0001525 angiogenesis IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007173 epidermal growth factor receptor signaling pathway IEA --
GO:0008283 cell proliferation TAS 10861448
genes like me logo Genes that share ontologies with TGFA: view

Drugs & Compounds for TGFA Gene

(71) Drugs for TGFA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(68) Additional Compounds for TGFA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TGFA: view

Transcripts for TGFA Gene

Unigene Clusters for TGFA Gene

Transforming growth factor, alpha:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGFA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - - - -
SP6: - -
SP7: - -
SP8:

Relevant External Links for TGFA Gene

GeneLoc Exon Structure for
TGFA
ECgene alternative splicing isoforms for
TGFA

Expression for TGFA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TGFA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGFA Gene

This gene is overexpressed in Whole Blood (x4.9), Brain - Spinal cord (cervical c-1) (x4.9), and Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for TGFA Gene

This gene is overexpressed in Frontal cortex (61.3) and Retina (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TGFA Gene



Protein tissue co-expression partners for TGFA Gene

NURSA nuclear receptor signaling pathways regulating expression of TGFA Gene:

TGFA

SOURCE GeneReport for Unigene cluster for TGFA Gene:

Hs.170009

mRNA Expression by UniProt/SwissProt for TGFA Gene:

P01135-TGFA_HUMAN
Tissue specificity: Isoform 1, isoform 3 and isoform 4 are expressed in keratinocytes and tumor-derived cell lines.
genes like me logo Genes that share expression patterns with TGFA: view

Primer Products

Orthologs for TGFA Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGFA 34 35
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia TGFA 34 35
  • 94.58 (n)
mouse
(Mus musculus)
Mammalia Tgfa 34 16 35
  • 88.47 (n)
dog
(Canis familiaris)
Mammalia TGFA 34 35
  • 88.43 (n)
rat
(Rattus norvegicus)
Mammalia Tgfa 34
  • 87.63 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFA 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFA 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFA 34 35
  • 74.89 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485434 34
  • 70.04 (n)
zebrafish
(Danio rerio)
Actinopterygii tgfa 35
  • 33 (a)
OneToOne
Species where no ortholog for TGFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGFA Gene

ENSEMBL:
Gene Tree for TGFA (if available)
TreeFam:
Gene Tree for TGFA (if available)

Paralogs for TGFA Gene

Paralogs for TGFA Gene

(4) SIMAP similar genes for TGFA Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with TGFA: view

Variants for TGFA Gene

Sequence variations from dbSNP and Humsavar for TGFA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10172814 -- 70,453,818(+) CATGG(A/G)AAAAA intron-variant
rs10173132 -- 70,481,707(+) aactt(C/T)tgcct intron-variant, upstream-variant-2KB
rs10178514 -- 70,518,314(+) GGGGT(A/G)GTATC intron-variant
rs10178576 -- 70,509,396(+) CTTCC(C/T)TCTGT intron-variant
rs10179737 -- 70,483,632(+) TTCTA(C/T)CTGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TGFA Gene

Variant ID Type Subtype PubMed ID
esv3892614 CNV gain 25118596
nsv1000118 CNV gain 25217958
nsv472110 CNV novel sequence insertion 20440878
nsv834255 CNV gain 17160897

Variation tolerance for TGFA Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGFA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFA Gene

Disorders for TGFA Gene

MalaCards: The human disease database

(18) MalaCards diseases for TGFA Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tooth agenesis
  • familial tooth agenesis
cleft lip
  • cheiloschisis
cleft lip/palate
  • alveolar cleft lip and palate
pancreatic cancer
  • pancreatic carcinoma, somatic
bone marrow necrosis
- elite association - COSMIC cancer census association via MalaCards
Search TGFA in MalaCards View complete list of genes associated with diseases

Relevant External Links for TGFA

Genetic Association Database (GAD)
TGFA
Human Genome Epidemiology (HuGE) Navigator
TGFA
Tumor Gene Database (TGDB):
TGFA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGFA
genes like me logo Genes that share disorders with TGFA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TGFA Gene

Publications for TGFA Gene

  1. Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. (PMID: 10552925) Machida J. … Murray J.C. (Genomics 1999) 2 3 4 22 64
  2. Epidermal growth factor receptor intron 1 CA dinucleotide repeat polymorphism and survival of advanced gastric cancer patients treated with cetuximab plus modified FOLFOX6. (PMID: 20047592) Han S.W. … Kim T.Y. (Cancer Sci. 2010) 3 22 46 64
  3. Cysteines 153 and 154 of transmembrane transforming growth factor- alpha are palmitoylated and mediate cytoplasmic protein association. (PMID: 8910478) Shum L. … Derynck R. (J. Biol. Chem. 1996) 3 4 22 64
  4. Transforming growth factor-alpha: characterization of the BamHI, RsaI, and TaqI polymorphic regions. (PMID: 8100397) Qian J.F. … May E. (Am. J. Hum. Genet. 1993) 3 4 22 64
  5. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V. … Ndung'u T. (Clin. Infect. Dis. 2011) 3 46 64

Products for TGFA Gene

Sources for TGFA Gene

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