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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
    mouse all
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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
    • 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 Variation Viewer (GRCh37.p13)

    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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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