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TGFA transforming growth factor alpha [ Homo sapiens (human) ]

Gene ID: 7039, updated on 2-Nov-2024

Summary

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Official Symbol
TGFAprovided by HGNC
Official Full Name
transforming growth factor alphaprovided by HGNC
Primary source
HGNC:HGNC:11765
See related
Ensembl:ENSG00000163235 MIM:190170; AllianceGenome:HGNC:11765
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TFGA
Summary
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]
Expression
Broad expression in esophagus (RPKM 11.6), gall bladder (RPKM 8.1) and 17 other tissues See more
Orthologs
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Genomic context

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See TGFA in Genome Data Viewer
Location:
2p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70447284..70553826, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70458007..70564581, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70674416..70780958, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene bromodomain containing 7 pseudogene 6 Neighboring gene tRNA-undetermined (NNN) 9-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70683068-70683568 Neighboring gene uncharacterized LOC107985895 Neighboring gene TGFA intronic transcript 1 Neighboring gene Sharpr-MPRA regulatory region 10182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70741406-70741908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70751144-70751760 Neighboring gene uncharacterized LOC124907824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11613 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:70796083-70797282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:70823358-70824557 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:70847073-70847578 Neighboring gene uncharacterized LOC105374794 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:70904853-70906052 Neighboring gene adducin 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:70937501-70938030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70939798-70940354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70940355-70940910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70940911-70941466 Neighboring gene Sharpr-MPRA regulatory region 8528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70963227-70963968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70971761-70972262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70994467-70995032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70995033-70995598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70996008-70996572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16008 Neighboring gene folliculogenesis specific bHLH transcription factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic effect of transforming growth factor alpha gene variants on the risk of nonsyndromic cleft lip with or without palate in korean populations. Kim BM, et al. Cleft Palate Craniofac J, 2015 May. PMID 24805869
  2. TGF-alpha regulates TLR expression and function on epidermal keratinocytes. Miller LS, et al. J Immunol, 2005 May 15. PMID 15879109
  3. Microarray analysis of two single-nucleotide polymorphisms of transforming growth factor alpha in patients with nonsyndromic cleft of north china. Xu W, et al. Cleft Palate Craniofac J, 2014 Jul. PMID 23742131
  4. Rho/ROCK and MEK/ERK activation by transforming growth factor-alpha induces articular cartilage degradation. Appleton CT, et al. Lab Invest, 2010 Jan. PMID 19823173
  5. Putative association of transforming growth factor-alpha polymorphisms with clearance of hepatitis B virus and occurrence of hepatocellular carcinoma in patients with chronic hepatitis B virus infection. Kim YJ, et al. J Viral Hepat, 2010 Jul. PMID 19780938

See all (249) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TGFA expression is associated with poor prognosis and promotes the development of cervical cancer.
    Title: TGFA expression is associated with poor prognosis and promotes the development of cervical cancer.
  2. EGF, TGF-alpha and Amphiregulin Differently Regulate Endometrium-Derived Mesenchymal Stromal/Stem Cells.
    Title: EGF, TGF-α and Amphiregulin Differently Regulate Endometrium-Derived Mesenchymal Stromal/Stem Cells.
  3. CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA.
    Title: CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA.
  4. Autocrine TGF-alpha is associated with Benzo(a)pyrene-induced mucus production and MUC5AC expression during allergic asthma.
    Title: Autocrine TGF-alpha is associated with Benzo(a)pyrene-induced mucus production and MUC5AC expression during allergic asthma.
  5. Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.
    Title: Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.
  6. The Aryl Hydrocarbon Receptor-Dependent TGF-alpha/VEGF-B Ratio Correlates With Disease Subtype and Prognosis in Multiple Sclerosis.
    Title: The Aryl Hydrocarbon Receptor-Dependent TGF-α/VEGF-B Ratio Correlates With Disease Subtype and Prognosis in Multiple Sclerosis.
  7. Altered proTGFalpha/cleaved TGFalpha ratios offer new therapeutic strategies in renal carcinoma.
    Title: Altered proTGFα/cleaved TGFα ratios offer new therapeutic strategies in renal carcinoma.
  8. LncRNA LINC00857 strengthens the malignancy behaviors of pancreatic adenocarcinoma cells by serving as a competing endogenous RNA for miR-340-5p to upregulate TGFA expression.
    Title: LncRNA LINC00857 strengthens the malignancy behaviors of pancreatic adenocarcinoma cells by serving as a competing endogenous RNA for miR-340-5p to upregulate TGFA expression.
  9. IRF6, MSX1, TGFA, dental anomalies, and skeletal malocclusion.
    Title: IRF6, MSX1, TGFA, dental anomalies, and skeletal malocclusion.
  10. MicroRNA-374b inhibits breast cancer progression through regulating CCND1 and TGFA genes.
    Title: MicroRNA-374b inhibits breast cancer progression through regulating CCND1 and TGFA genes.
Submit: New GeneRIF Correction See all GeneRIFs (157)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A novel SNP associated with nighttime pulse pressure in young-onset hypertension patients could be a genetic prognostic factor for cardiovascular events in a general cohort in Taiwan.
EBI GWAS Catalog
Common variants at 1p36 are associated with superior frontal gyrus volume.
EBI GWAS Catalog
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
EBI GWAS Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Joint influence of small-effect genetic variants on human longevity.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates transcription of the transforming growth factor alpha gene in an epidermal growth factor-dependent manner PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables epidermal growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables epidermal growth factor receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables growth factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor ligand activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in ERBB2-EGFR signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hepatocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
  
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
protransforming growth factor alpha
Names
TGF-alpha

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029975.1 RefSeqGene

    Range
    5190..111732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001099691.3 → NP_001093161.1  protransforming growth factor alpha isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001093161.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is one amino acid shorter than isoform 1.
    Source sequence(s)
    BC005308, BI760767, BM453873, CD369689, CN274505, DA373586, X70340
    Consensus CDS
    CCDS46316.1
    UniProtKB/Swiss-Prot
    P01135
    Related
    ENSP00000404099.2, ENST00000418333.6
    Conserved Domains (2) summary
    PHA02887
    Location:43 → 82
    PHA02887; EGF-like protein; Provisional
    PHA03099
    Location:46 → 120
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

  2. NM_001308158.2 → NP_001295087.1  protransforming growth factor alpha isoform 3 precursor

    See identical proteins and their annotated locations for NP_001295087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon. This results in a distinct 5' UTR, causes translation initiation at an alternate start codon, and a distinct 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK309066, BC005308, BI760767, BM453873, CD369689, X70340
    Consensus CDS
    CCDS77420.1
    UniProtKB/TrEMBL
    F8VNR3
    Related
    ENSP00000404131.1, ENST00000444975.5
    Conserved Domains (2) summary
    PHA02887
    Location:50 → 89
    PHA02887; EGF-like protein; Provisional
    PHA03099
    Location:53 → 127
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

  3. NM_001308159.2 → NP_001295088.1  protransforming growth factor alpha isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. These differences result in a distinct 5' UTR, causes translation initiation at an alternate start codon, and a distinct 5' coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus, lacks a single amino acid near the N-terminus of the protein, but is longer than isoform 1.
    Source sequence(s)
    AK309220, BC005308, BI760767, BM453873, CD369689, X70340
    Consensus CDS
    CCDS77419.1
    UniProtKB/TrEMBL
    E7EPT6
    Related
    ENSP00000414127.1, ENST00000450929.5
    Conserved Domains (2) summary
    PHA02887
    Location:49 → 88
    PHA02887; EGF-like protein; Provisional
    PHA03099
    Location:52 → 126
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

  4. NM_003236.4 → NP_003227.1  protransforming growth factor alpha isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003227.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BI760767, CD369689, DA229819, DA373586, DA462271, X70340
    Consensus CDS
    CCDS1905.1
    UniProtKB/Swiss-Prot
    A8K286, P01135, Q15577, Q53SK7, Q9BS56, Q9UEI3, Q9UKM1, Q9UKM2, Q9UKM3
    Related
    ENSP00000295400.6, ENST00000295400.11
    Conserved Domains (2) summary
    PHA02887
    Location:44 → 83
    PHA02887; EGF-like protein; Provisional
    PHA03099
    Location:47 → 121
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    70447284..70553826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    70458007..70564581 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P01135.1 GenPept UniProtKB/Swiss-Prot:P01135

Gene LinkOut

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Chemical Information
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