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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
IRF6, MSX1, TGFA, dental anomalies, and skeletal malocclusion.
Title: IRF6, MSX1, TGFA, dental anomalies, and skeletal malocclusion.
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 EBI GWAS CatalogPubMed
Common variants at 1p36 are associated with superior frontal gyrus volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint influence of small-effect genetic variants on human longevity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12714 (e-PCR)
- UniSTS:78359

PMC312794P1 (e-PCR)
- UniSTS:272920

PMC99897P1 (e-PCR)
- UniSTS:273693

TGFA_427 (e-PCR)
- UniSTS:277806

SHGC-107216 (e-PCR)
- UniSTS:170286

D2S2800 (e-PCR)
- UniSTS:63545

SHGC-107207 (e-PCR)
- UniSTS:170302

GDB:181258 (e-PCR)
- UniSTS:155226

GDB:363429 (e-PCR)
- UniSTS:156770

GDB:186558 (e-PCR)
- UniSTS:155494

RH70888 (e-PCR)
- UniSTS:67689

D2S292 (e-PCR), detects polymorphism
- UniSTS:47980

SHGC-172026 (e-PCR)
- UniSTS:183448

GDB:120435 (e-PCR)
- UniSTS:109478

GDB:206703 (e-PCR)
- UniSTS:156116

GDB:206704 (e-PCR)
- UniSTS:156117

GDB:206705 (e-PCR)
- UniSTS:156118

D2S292 (e-PCR), detects polymorphism
- UniSTS:38651

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

NG_029975.1 RefSeqGene

Range

5190..111732

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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