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

Gene ID: 7039, updated on 24-Nov-2020

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
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

Genomic context

See TGFA in Genome Data Viewer
Location:
2p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70447284..70553826, 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 bromodomain containing 7 pseudogene 6 Neighboring gene tRNA-undetermined (NNN) 9-1 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

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

Associated conditions

Description Tests
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.
GeneReviews: Not available
Common variants at 1p36 are associated with superior frontal gyrus volume.
GeneReviews: Not available
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
GeneReviews: Not available
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available
Joint influence of small-effect genetic variants on human longevity.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
epidermal growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epidermal growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
activation of MAPK activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of MAPK activity IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of epidermal growth factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of epidermal growth factor-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of mitotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
 
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 
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
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 region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
protransforming growth factor alpha
Names
TGF-alpha

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P01135
    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/Swiss-Prot
    P01135
    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
    P01135
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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