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/... See more...

Aliases for TGFA Gene

Aliases for TGFA Gene

  • Transforming Growth Factor Alpha 2 3 5
  • Protransforming Growth Factor Alpha 3 4
  • 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
  • GC02M070410
  • 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]

CIViC Summary for TGFA Gene

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 Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Gene Ontology (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 Summary 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

Additional gene information for TGFA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFA Gene

Genomics for TGFA Gene

GeneHancer (GH) Regulatory Elements for TGFA Gene

Promoters and enhancers for TGFA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J070551 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 759.1 +0.8 838 4.1 CTCF POLR2A NR2F1 MAX RAD21 ZNF24 GLIS2 ZIC2 HMG20B ZBTB8A TGFA lnc-ADD2-2 VAX2 RF00994-491
GH02J070467 Enhancer 0.8 Ensembl 52.1 +81.0 80993 10.4 SIX5 USF2 HCFC1 MYC HLF L3MBTL2 MAX PRDM1 ZIC2 ZBTB8A TGFA TIA1 ZNF638 MPHOSPH10 GMCL1 ANKRD53 TEX261 CLEC4F PCBP1-AS1 TGFA-IT1
GH02J070370 Enhancer 0.9 Ensembl ENCODE dbSUPER 30.5 +182.3 182341 2.4 RFX1 CEBPB JUN GABPA MAX ZNF10 EP300 RFX5 STAT3 CEBPG TGFA ADD2 HSALNG0015807 ENSG00000229229
GH02J070380 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 21 +172.2 172152 3 POLR2A NCOA3 GABPA JUND MAX EP300 ELF1 HSF1 FOS ZBTB40 TGFA TEX261 ANKRD53 HSALNG0015807 ENSG00000229229
GH02J070509 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +44.1 44092 2.6 TCF7L2 MAFK ZNF680 ZBTB20 KLF4 CTCF SMARCE1 TGFA CD207 ASPRV1 FIGLA TGFA-IT1 RF00994-491 lnc-ADD2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFA gene promoter:
  • c-Ets-1
  • Evi-1
  • FOXC1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • p53

Genomic Locations for TGFA Gene

Genomic Locations for TGFA Gene
chr2:70,447,280-70,554,193
(GRCh38/hg38)
Size:
106,914 bases
Orientation:
Minus strand
chr2:70,674,412-70,781,325
(GRCh37/hg19)
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

  • Glycosylation at Asn25

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TGFA

No data available for DME Specific Peptides for TGFA Gene

Domains & Families for TGFA Gene

Gene Families for TGFA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for TGFA Gene

Suggested Antigen Peptide Sequences for TGFA Gene

GenScript: Design optimal peptide antigens:
  • Transforming growth factor, alpha, isoform CRA_d (Q15578_HUMAN)
  • Transforming growth factor alpha (Q9UE87_HUMAN)
  • Transforming growth factor-alpha variant I (Q9UKM3_HUMAN)
  • Transforming growth factor alpha (Q9UQ91_HUMAN)
  • Protransforming growth factor alpha (TGFA_HUMAN)
genes like me logo Genes that share domains with TGFA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TGFA Gene

Function for TGFA Gene

Molecular function for TGFA Gene

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.
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

Phenotypes From GWAS Catalog for TGFA Gene

Gene Ontology (GO) - Molecular Function for TGFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005154 epidermal growth factor receptor binding IDA,IEA 11278323
GO:0005515 protein binding IPI 12297049
GO:0008083 growth factor activity 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

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFA gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
golgi apparatus 2
cytoskeleton 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS --
GO:0005615 extracellular space IDA,IEA 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

PathCards logo

SuperPathways for TGFA Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ErbB signaling pathway
4 ERK Signaling
.61
.61
.58
.51
.49
5 Transport to the Golgi and subsequent modification
genes like me logo Genes that share pathways with TGFA: view

Pathways by source for TGFA Gene

55 Qiagen pathways for TGFA Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
2 Cell Signaling Technology pathways for TGFA Gene

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:0000165 MAPK cascade TAS --
GO:0000187 activation of MAPK activity IDA 11278323
GO:0001525 angiogenesis IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
genes like me logo Genes that share ontologies with TGFA: view

Drugs & Compounds for TGFA Gene

(74) Drugs for TGFA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(65) 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

CRISPR Products

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for TGFA Gene

  • Nervous system(4.6)
  • Intestine(4.3)
  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • chin
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGFA: view

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 33 32
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TGFA 33 32
  • 94.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfa 17 33 32
  • 88.47 (n)
dog
(Canis familiaris)
Mammalia TGFA 33 32
  • 88.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfa 32
  • 87.63 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFA 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFA 33
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFA 33 32
  • 74.89 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485434 32
  • 70.04 (n)
zebrafish
(Danio rerio)
Actinopterygii tgfa 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TGFA: view image

Paralogs for TGFA Gene

Paralogs for TGFA Gene

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

  • TGFA_HUMAN
  • E7EPT6_HUMAN
  • F8VNR3_HUMAN
  • F8WA74_HUMAN
  • H0Y6S5_HUMAN
  • Q15578_HUMAN
  • Q9UE87_HUMAN
  • Q9UQ91_HUMAN
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 Variation AA Info Type
rs1000010326 -- 70,458,329(-) T/C intron_variant
rs1000011962 -- 70,551,917(-) G/A/C intron_variant
rs1000088676 -- 70,506,112(-) G/A intron_variant
rs1000123469 -- 70,545,925(-) G/A intron_variant
rs1000166490 -- 70,455,462(-) C/T intron_variant

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)

Additional Variant Information for TGFA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TGFA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tooth agenesis
  • familial tooth agenesis
cleft lip
  • cheiloschisis
cholesteatoma of middle ear
  • cholesteatoma
endometrial cancer
  • endometrial cancer, familial
bone marrow necrosis
- elite association - COSMIC cancer census association via MalaCards
Search TGFA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TGFA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JC (Genomics 1999) 2 3 4 23 56
  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 SW … Kim TY (Cancer science 2010) 3 23 43 56
  3. Cysteines 153 and 154 of transmembrane transforming growth factor-alpha are palmitoylated and mediate cytoplasmic protein association. (PMID: 8910478) Shum L … Derynck R (The Journal of biological chemistry 1996) 3 4 23 56
  4. Transforming growth factor-alpha: characterization of the BamHI, RsaI, and TaqI polymorphic regions. (PMID: 8100397) Qian JF … May E (American journal of human genetics 1993) 3 4 23 56
  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 (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 43 56

Products for TGFA Gene

Sources for TGFA Gene