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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]
TGFA (Transforming Growth Factor Alpha) is a Protein Coding gene. Diseases associated with TGFA include Tooth Agenesis and Cholesteatoma Of Middle Ear. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include growth factor activity and epidermal growth factor receptor binding. An important paralog of this gene is BTC.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005154 | epidermal growth factor receptor binding | IEA,IDA | 11278323 |
GO:0005515 | protein binding | IPI | 12297049 |
GO:0008083 | growth factor activity | IDA | 11278323 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 12743035 |
GO:0005634 | nucleus | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
3 | ErbB signaling pathway | ||
4 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
5 | Transport to the Golgi and subsequent modification |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0000187 | activation of MAPK activity | IDA | 11278323 |
GO:0001525 | angiogenesis | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | -- |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGFA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGFA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgfa 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGFA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgfa 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TGFA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TGFA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TGFA 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485434 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgfa 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709603 | Benign: not provided | 70,456,379(-) | C/T | MISSENSE_VARIANT | |
714126 | Benign: not provided | 70,514,916(-) | T/C | INTRON_VARIANT | |
746325 | Benign: not provided | 70,456,428(-) | A/G | SYNONYMOUS_VARIANT | |
750438 | Likely Benign: not provided | 70,465,606(-) | G/A | INTRON_VARIANT | |
764953 | Likely Benign: not provided | 70,450,875(-) | A/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3892614 | CNV | gain | 25118596 |
nsv1000118 | CNV | gain | 25217958 |
nsv472110 | CNV | novel sequence insertion | 20440878 |
nsv834255 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tooth agenesis |
|
|
cholesteatoma of middle ear |
|
|
cleft lip |
|
|
gastritis, familial giant hypertrophic |
|
|
cleft lip with or without cleft palate |
|
|