Gene: Tgfa

Basic information

Tag Content
Uniprot ID P48030
Entrez ID 21802
Genbank protein ID AAB50554.1; AAB50553.1; AAA40481.1;
Genbank nucleotide ID NM_031199.4
Ensembl protein ID ENSMUSP00000032066
Ensembl nucleotide ID ENSMUSG00000029999
Gene name Protransforming growth factor alpha
Gene symbol Tgfa
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
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
MVPATGQLAL LALGILLAVC QALENSTSPL SDSPVAAAVV SHFNKCPDSH TQYCFHGTCR 60
FLVQEEKPAC VCHSGYVGVR CEHADLLAVV AASQKKQAIT ALVVVSIVAL AVLIITCVLI 120
HCCQLRKHCE WCRALVCRHE KPSALLKGRT ACCHSETVV 159

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005154 epidermal growth factor receptor bindingISO
GO:0005154 epidermal growth factor receptor bindingISS
GO:0005154 epidermal growth factor receptor bindingIBA
GO:0005154 epidermal growth factor receptor bindingIDA
GO:0005515 protein bindingIDA
GO:0008083 growth factor activityISS
GO:0008083 growth factor activityISO
GO:0008083 growth factor activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000187 activation of MAPK activityISS
GO:0000187 activation of MAPK activityISO
GO:0000187 activation of MAPK activityIBA
GO:0001525 angiogenesisIDA
GO:0007173 epidermal growth factor receptor signaling pathwayISO
GO:0007173 epidermal growth factor receptor signaling pathwayIBA
GO:0007173 epidermal growth factor receptor signaling pathwayIDA
GO:0008284 positive regulation of cell population proliferationISO
GO:0008284 positive regulation of cell population proliferationIBA
GO:0008284 positive regulation of cell population proliferationIDA
GO:0042060 wound healingIEA
GO:0042493 response to drugIEA
GO:0043066 negative regulation of apoptotic processISO
GO:0045741 positive regulation of epidermal growth factor-activated receptor activityISS
GO:0045741 positive regulation of epidermal growth factor-activated receptor activityISO
GO:0045840 positive regulation of mitotic nuclear divisionISS
GO:0045840 positive regulation of mitotic nuclear divisionISO
GO:0048523 negative regulation of cellular processISO
GO:0050679 positive regulation of epithelial cell proliferationISS
GO:0050679 positive regulation of epithelial cell proliferationISO
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylationIDA
GO:0051781 positive regulation of cell divisionIEA
GO:0060749 mammary gland alveolus developmentIGI
GO:0072574 hepatocyte proliferationISO
GO:0072574 hepatocyte proliferationIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005615 extracellular spaceISO
GO:0005615 extracellular spaceIBA
GO:0005634 nucleusISO
GO:0009986 cell surfaceISO
GO:0016021 integral component of membraneIEA
GO:0016323 basolateral plasma membraneISO
GO:0031410 cytoplasmic vesicleISO
GO:0048471 perinuclear region of cytoplasmISO
GO:0005886 plasma membraneISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1257604 PIP3 activates AKT signalingIEA
R-MMU-1280215 Cytokine Signaling in Immune systemIEA
R-MMU-162582 Signal TransductionIEA
R-MMU-168256 Immune SystemIEA
R-MMU-177929 Signaling by EGFRIEA
R-MMU-179812 GRB2 events in EGFR signalingIEA
R-MMU-180292 GAB1 signalosomeIEA
R-MMU-180336 SHC1 events in EGFR signalingIEA
R-MMU-182971 EGFR downregulationIEA
R-MMU-199418 Negative regulation of the PI3K/AKT networkIEA
R-MMU-199977 ER to Golgi Anterograde TransportIEA
R-MMU-199991 Membrane TraffickingIEA
R-MMU-204005 COPII-mediated vesicle transportIEA
R-MMU-212718 EGFR interacts with phospholipase C-gammaIEA
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-446203 Asparagine N-linked glycosylationIEA
R-MMU-5653656 Vesicle-mediated transportIEA
R-MMU-5673001 RAF/MAP kinase cascadeIEA
R-MMU-5683057 MAPK family signaling cascadesIEA
R-MMU-5684996 MAPK1/MAPK3 signalingIEA
R-MMU-5694530 Cargo concentration in the ERIEA
R-MMU-597592 Post-translational protein modificationIEA
R-MMU-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingIEA
R-MMU-8856825 Cargo recognition for clathrin-mediated endocytosisIEA
R-MMU-8856828 Clathrin-mediated endocytosisIEA
R-MMU-8939211 ESR-mediated signalingIEA
R-MMU-9006925 Intracellular signaling by second messengersIEA
R-MMU-9006931 Signaling by Nuclear ReceptorsIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA
R-MMU-9009391 Extra-nuclear estrogen signalingIEA
R-MMU-948021 Transport to the Golgi and subsequent modificationIEA
R-MMU-9607240 FLT3 SignalingIEA

Functional annotations

Keywords

Keyword ID Keyword Term
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-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-miRNA interaction