CleftGeneDB-Search

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	Species	Evidence	Details
1:1 ortholog	TGFA	7039	P01135	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Tgfa	21802	P48030		Mus musculus	Prediction	More>>
1:1 ortholog	TGFA		H2QI26		Pan troglodytes	Prediction	More>>
1:1 ortholog	TGFA		F1SLD3		Sus scrofa	Prediction	More>>
1:1 ortholog	Tgfa	24827	P01134		Rattus norvegicus	Prediction	More>>
1:1 ortholog	tgfa		I3ISP4		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TGFA	rs11466297A> C	Genotyping;PCR-RFLP	26605011
TGFA	rs3771497T>G	Genotyping; TDT	24805869
TGFA	rs3821261T>G	Genotyping;TDT	19444471
TGFA	rs3771475A>G	Genotyping;TDT	19444471
TGFA	rs2902345	TaqMan	23029012
TGFA	rs3771494T>C	PCR	23940636
TGFA	rs3771523G>A; c.3822G>A	PCR	23940636
TGFA	rs11466285T>C; c.3851T>C	PCR	23940636
TGFA	rs7605323T>C	Genotyping	21462296

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs212241800	p.Thr5Ile	missense variant	-	NC_000072.6:g.86195519C>T	UniProt
rs13462262	p.Gly57Glu	missense variant	-	NC_000072.6:g.86263234G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005154	epidermal growth factor receptor binding	ISO
GO:0005154	epidermal growth factor receptor binding	ISS
GO:0005154	epidermal growth factor receptor binding	IBA
GO:0005154	epidermal growth factor receptor binding	IDA
GO:0005515	protein binding	IDA
GO:0008083	growth factor activity	ISS
GO:0008083	growth factor activity	ISO
GO:0008083	growth factor activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000187	activation of MAPK activity	ISS
GO:0000187	activation of MAPK activity	ISO
GO:0000187	activation of MAPK activity	IBA
GO:0001525	angiogenesis	IDA
GO:0007173	epidermal growth factor receptor signaling pathway	ISO
GO:0007173	epidermal growth factor receptor signaling pathway	IBA
GO:0007173	epidermal growth factor receptor signaling pathway	IDA
GO:0008284	positive regulation of cell population proliferation	ISO
GO:0008284	positive regulation of cell population proliferation	IBA
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0042060	wound healing	IEA
GO:0042493	response to drug	IEA
GO:0043066	negative regulation of apoptotic process	ISO
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	ISS
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	ISO
GO:0045840	positive regulation of mitotic nuclear division	ISS
GO:0045840	positive regulation of mitotic nuclear division	ISO
GO:0048523	negative regulation of cellular process	ISO
GO:0050679	positive regulation of epithelial cell proliferation	ISS
GO:0050679	positive regulation of epithelial cell proliferation	ISO
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA
GO:0051781	positive regulation of cell division	IEA
GO:0060749	mammary gland alveolus development	IGI
GO:0072574	hepatocyte proliferation	ISO
GO:0072574	hepatocyte proliferation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IBA
GO:0005634	nucleus	ISO
GO:0009986	cell surface	ISO
GO:0016021	integral component of membrane	IEA
GO:0016323	basolateral plasma membrane	ISO
GO:0031410	cytoplasmic vesicle	ISO
GO:0048471	perinuclear region of cytoplasm	ISO
GO:0005886	plasma membrane	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1257604	PIP3 activates AKT signaling	IEA
R-MMU-1280215	Cytokine Signaling in Immune system	IEA
R-MMU-162582	Signal Transduction	IEA
R-MMU-168256	Immune System	IEA
R-MMU-177929	Signaling by EGFR	IEA
R-MMU-179812	GRB2 events in EGFR signaling	IEA
R-MMU-180292	GAB1 signalosome	IEA
R-MMU-180336	SHC1 events in EGFR signaling	IEA
R-MMU-182971	EGFR downregulation	IEA
R-MMU-199418	Negative regulation of the PI3K/AKT network	IEA
R-MMU-199977	ER to Golgi Anterograde Transport	IEA
R-MMU-199991	Membrane Trafficking	IEA
R-MMU-204005	COPII-mediated vesicle transport	IEA
R-MMU-212718	EGFR interacts with phospholipase C-gamma	IEA
R-MMU-392499	Metabolism of proteins	IEA
R-MMU-446203	Asparagine N-linked glycosylation	IEA
R-MMU-5653656	Vesicle-mediated transport	IEA
R-MMU-5673001	RAF/MAP kinase cascade	IEA
R-MMU-5683057	MAPK family signaling cascades	IEA
R-MMU-5684996	MAPK1/MAPK3 signaling	IEA
R-MMU-5694530	Cargo concentration in the ER	IEA
R-MMU-597592	Post-translational protein modification	IEA
R-MMU-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	IEA
R-MMU-8856825	Cargo recognition for clathrin-mediated endocytosis	IEA
R-MMU-8856828	Clathrin-mediated endocytosis	IEA
R-MMU-8939211	ESR-mediated signaling	IEA
R-MMU-9006925	Intracellular signaling by second messengers	IEA
R-MMU-9006931	Signaling by Nuclear Receptors	IEA
R-MMU-9006934	Signaling by Receptor Tyrosine Kinases	IEA
R-MMU-9009391	Extra-nuclear estrogen signaling	IEA
R-MMU-948021	Transport to the Golgi and subsequent modification	IEA
R-MMU-9607240	FLT3 Signaling	IEA

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