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

    Gene ID: 7039, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    Preferred Names
    protransforming growth factor alpha
    Names
    TGF-alpha

    NCBI Reference Sequences (RefSeq)

    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_001099691.3NP_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:4382
      PHA02887; EGF-like protein; Provisional
      PHA03099
      Location:46120
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    2. NM_001308158.2NP_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:5089
      PHA02887; EGF-like protein; Provisional
      PHA03099
      Location:53127
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    3. NM_001308159.2NP_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:4988
      PHA02887; EGF-like protein; Provisional
      PHA03099
      Location:52126
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    4. NM_003236.4NP_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:4483
      PHA02887; EGF-like protein; Provisional
      PHA03099
      Location:47121
      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)