Gene: TGFA

Basic information

Tag Content
Uniprot ID P01135; A8K286; Q15577; Q53SK7; Q9BS56; Q9UEI3; Q9UKM1; Q9UKM2; Q9UKM3;
Entrez ID 7039
Genbank protein ID AAF13491.1; BAF82840.1; AAY14705.1; AAF05089.1; AAP35479.1; AAA52530.1; AAF05090.1; AAF05091.1; CAA49806.1; EAW99810.1; AAY14793.1; AAD12238.1; AAP97822.2; AAH05308.1; EAW99812.1; AAA61157.1; AAA61159.1;
Genbank nucleotide ID NM_001308158.1; NM_001308159.1; NM_003236.3; NM_001099691.2;
Ensembl protein ID ENSP00000404099; ENSP00000387493; ENSP00000295400;
Ensembl nucleotide ID ENSG00000163235
Gene name Protransforming growth factor alpha
Gene symbol TGFA
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 23940636; 1361101; 1673285; 14981713; 14755461; 1352354; 19444471; 10918043; 25191068; 9345615; 16953426; 26605011; 23029012; 24805869; 7825598; 2570526; 9684776;
Functional description TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar.
Sequence
MVPSAGQLAL FALGIVLAAC QALENSTSPL SADPPVAAAV VSHFNDCPDS HTQFCFHGTC 60
RFLVQEDKPA CVCHSGYVGA RCEHADLLAV VAASQKKQAI TALVVVSIVA LAVLIITCVL 120
IHCCQVRKHC EWCRALICRH EKPSALLKGR TACCHSETVV

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTGFA7039P01135CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologTgfa21802P48030Mus musculusPredictionMore>>
1:1 orthologTGFAH2QI26Pan troglodytesPredictionMore>>
1:1 orthologTGFAF1SLD3Sus scrofaPredictionMore>>
1:1 orthologTgfa24827P01134Rattus norvegicusPredictionMore>>
1:1 orthologtgfaI3ISP4Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TGFArs11466297A> CGenotyping;PCR-RFLP26605011
TGFArs3771497T>GGenotyping; TDT24805869
TGFArs3821261T>GGenotyping;TDT19444471
TGFArs3771475A>GGenotyping;TDT19444471
TGFArs2902345TaqMan23029012
TGFArs3771494T>CPCR23940636
TGFArs3771523G>A; c.3822G>APCR23940636
TGFArs11466285T>C; c.3851T>CPCR23940636
TGFArs7605323T>CGenotyping21462296

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005154 epidermal growth factor receptor bindingIDA
GO:0005154 epidermal growth factor receptor bindingIBA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIDA
GO:0008083 growth factor activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000165 MAPK cascadeTAS
GO:0000187 activation of MAPK activityIDA
GO:0000187 activation of MAPK activityIBA
GO:0006357 regulation of transcription by RNA polymerase IITAS
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transportTAS
GO:0007165 signal transductionTAS
GO:0007173 epidermal growth factor receptor signaling pathwayIBA
GO:0007173 epidermal growth factor receptor signaling pathwayTAS
GO:0008284 positive regulation of cell population proliferationIBA
GO:0035556 intracellular signal transductionTAS
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathwayTAS
GO:0045741 positive regulation of epidermal growth factor-activated receptor activityIDA
GO:0045840 positive regulation of mitotic nuclear divisionIDA
GO:0048208 COPII vesicle coatingTAS
GO:0050679 positive regulation of epithelial cell proliferationIDA
GO:0051781 positive regulation of cell divisionIEA
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0061024 membrane organizationTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneIEA
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA
GO:0005789 endoplasmic reticulum membraneTAS
GO:0005886 plasma membraneNAS
GO:0009986 cell surfaceIDA
GO:0012507 ER to Golgi transport vesicle membraneTAS
GO:0016021 integral component of membraneIEA
GO:0016323 basolateral plasma membraneIDA
GO:0030665 clathrin-coated vesicle membraneTAS
GO:0031410 cytoplasmic vesicleIDA
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membraneTAS
GO:0048471 perinuclear region of cytoplasmIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-1643713 Signaling by EGFR in CancerTAS
R-HSA-168256 Immune SystemTAS
R-HSA-177929 Signaling by EGFRTAS
R-HSA-179812 GRB2 events in EGFR signalingTAS
R-HSA-180292 GAB1 signalosomeTAS
R-HSA-180336 SHC1 events in EGFR signalingTAS
R-HSA-182971 EGFR downregulationTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-199977 ER to Golgi Anterograde TransportTAS
R-HSA-199991 Membrane TraffickingTAS
R-HSA-204005 COPII-mediated vesicle transportTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-212718 EGFR interacts with phospholipase C-gammaTAS
R-HSA-2219528 PI3K/AKT Signaling in CancerTAS
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerTAS
R-HSA-392499 Metabolism of proteinsTAS
R-HSA-446203 Asparagine N-linked glycosylationTAS
R-HSA-5638302 Signaling by Overexpressed Wild-Type EGFR in CancerTAS
R-HSA-5638303 Inhibition of Signaling by Overexpressed EGFRTAS
R-HSA-5653656 Vesicle-mediated transportTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-5694530 Cargo concentration in the ERTAS
R-HSA-597592 Post-translational protein modificationTAS
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosisTAS
R-HSA-8856828 Clathrin-mediated endocytosisTAS
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsTAS
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptorsTAS
R-HSA-8939211 ESR-mediated signalingTAS
R-HSA-9006925 Intracellular signaling by second messengersTAS
R-HSA-9006931 Signaling by Nuclear ReceptorsTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9009391 Extra-nuclear estrogen signalingTAS
R-HSA-9018519 Estrogen-dependent gene expressionTAS
R-HSA-948021 Transport to the Golgi and subsequent modificationTAS
R-HSA-9607240 FLT3 SignalingTAS
R-HSA-9634638 Estrogen-dependent nuclear events downstream of ESR-membrane signalingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-1003 Cell membrane
KW-1015 Disulfide bond
KW-0245 EGF-like domain
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0449 Lipoprotein
KW-0472 Membrane
KW-0497 Mitogen
KW-0564 Palmitate
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom

PROSITE

PROSITE ID PROSITE Term
PS00022 EGF_1
PS01186 EGF_2
PS50026 EGF_3

Pfam

Pfam ID Pfam Term

Protein-protein interaction

Protein-miRNA interaction