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

    Gene ID: 7039, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000129669
    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]
    Orthologs
    Location:
    2p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (70447280..70554015, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70674412..70781147, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 136 member A Neighboring gene bromodomain containing 7 pseudogene 6 Neighboring gene uncharacterized LOC105374793 Neighboring gene uncharacterized LOC107985895 Neighboring gene TGFA intronic transcript 1 Neighboring gene uncharacterized LOC105374794 Neighboring gene adducin 2 Neighboring gene folliculogenesis specific bHLH transcription factor

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI 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.
    NHGRI GWA Catalog
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    NHGRI GWA Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog
    Joint influence of small-effect genetic variants on human longevity.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    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

    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystem (from WikiPathways)
      Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystemThis pathway is based on Figure 8 of "Mapping drug physico-chemical features to pathway activity reveals molecular networks linked to toxicity outcome."(See bibliography). These 3 pathways demonstr...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
      Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • EGFR tyrosine kinase inhibitor resistance, organism-specific biosystem (from KEGG)
      EGFR tyrosine kinase inhibitor resistance, organism-specific biosystemEGFR is a tyrosine kinase that participates in the regulation of cellular homeostasis. EGFR also serves as a stimulus for cancer growth. EGFR gene mutations and protein overexpression, both of which ...
    • EGFR tyrosine kinase inhibitor resistance, conserved biosystem (from KEGG)
      EGFR tyrosine kinase inhibitor resistance, conserved biosystemEGFR is a tyrosine kinase that participates in the regulation of cellular homeostasis. EGFR also serves as a stimulus for cancer growth. EGFR gene mutations and protein overexpression, both of which ...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • ErbB Signaling Pathway, organism-specific biosystem (from WikiPathways)
      ErbB Signaling Pathway, organism-specific biosystemThe ErbB protein family or epidermal growth factor receptor (EGFR) family is a family of four structurally related receptor tyrosine kinases. Insufficient ErbB signaling in humans is associated with ...
    • ErbB receptor signaling network, organism-specific biosystem (from Pathway Interaction Database)
      ErbB receptor signaling network, organism-specific biosystem
      ErbB receptor signaling network
    • ErbB signaling pathway, organism-specific biosystem (from KEGG)
      ErbB signaling pathway, organism-specific biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
    • ErbB signaling pathway, conserved biosystem (from KEGG)
      ErbB signaling pathway, conserved biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
    • Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystem (from WikiPathways)
      Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystemProtein sorting during formation of multivesicular bodies results in packaging of key molecules in exosomes. Exosomes bound-signaling ligands once released from host cells interacts with the receptor...
    • FOXM1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXM1 transcription factor network, organism-specific biosystem
      FOXM1 transcription factor network
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Glioma, organism-specific biosystem (from KEGG)
      Glioma, organism-specific biosystemGliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (a...
    • Glioma, conserved biosystem (from KEGG)
      Glioma, conserved biosystemGliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (a...
    • Lung fibrosis, organism-specific biosystem (from WikiPathways)
      Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
      Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Non-small cell lung cancer, conserved biosystem (from KEGG)
      Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Prostate cancer, organism-specific biosystem (from KEGG)
      Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Prostate cancer, conserved biosystem (from KEGG)
      Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Renal cell carcinoma, organism-specific biosystem (from KEGG)
      Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Renal cell carcinoma, conserved biosystem (from KEGG)
      Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, organism-specific biosystem (from REACTOME)
      TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, organism-specific biosystemTFAP2A and TFAP2C directly stimulate transcription of the estrogen receptor ESR1 gene (McPherson and Weigel 1999). TFAP2A expression correlates with ESR1 expression in breast cancer, and TFAP2C is fr...
    • Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystem (from REACTOME)
      Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystemThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) and TFAP2E (AP-2 epsilon). The AP...
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    epidermal growth factor receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    protransforming growth factor alpha
    Names
    TGF-alpha

    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
      5001..111736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099691.2NP_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, DA216480, DA373586, DA462271, X70340
      Consensus CDS
      CCDS46316.1
      UniProtKB/Swiss-Prot
      P01135
      Related
      ENSP00000404099.2, OTTHUMP00000225517, ENST00000418333.6, OTTHUMT00000376658
      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_001308158.1NP_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/Swiss-Prot
      P01135
      UniProtKB/TrEMBL
      F8VNR3
      Related
      ENSP00000404131.1, OTTHUMP00000203300, ENST00000444975.5, OTTHUMT00000329960
      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_001308159.1NP_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)
      AK309066, AK309220, BC005308, BI760767, BM453873, CD369689, X70340
      Consensus CDS
      CCDS77419.1
      UniProtKB/Swiss-Prot
      P01135
      UniProtKB/TrEMBL
      E7EPT6
      Related
      ENSP00000414127.1, OTTHUMP00000203301, ENST00000450929.5, OTTHUMT00000329961
      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_003236.3NP_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, DA216480, DA229819, DA373586, DA462271, X70340
      Consensus CDS
      CCDS1905.1
      UniProtKB/Swiss-Prot
      P01135
      Related
      ENSP00000295400.6, OTTHUMP00000160075, ENST00000295400.10, OTTHUMT00000251870
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      70447280..70554015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      70602969..70710469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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