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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TGFA Gene

protein-coding GIFtS: 63
GCID: GC02M070674

transforming growth factor, alpha

Explore 211 diseases affiliated with
TGFA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transforming Growth Factor, Alpha¹ ²
TFGA²
TGF-Alpha¹
Protransforming Growth Factor Alpha²

External Ids:	HGNC: 11765¹	Entrez Gene: 7039²	Ensembl: ENSG00000163235⁷	OMIM: 190170⁵	UniProtKB: P01135³

Export aliases for TGFA gene to outside databases

Previous GC identifers: GC02M070683 GC02M070885 GC02M070648 GC02M070586 GC02M070410

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TGFA:

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)

UniProtKB/Swiss-Prot: TGFA_HUMAN, P01135

Function: 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

Gene Wiki entry for TGFA (TGF alpha)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TGFA gene promoter:
p53 Evi-1 c-Ets-1 NF-AT NF-AT4 FOXC1 NF-AT2 NF-AT3 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TGFA promoter sequence

Search SABiosciences Chromatin IP Primers for TGFA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGFA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13 Ensembl cytogenetic band: 2p13.3 HGNC cytogenetic band: 2p13

TGFA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFA gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M070674: view genomic region (about GC identifiers)

Start:	70,674,412 bp from pter	End:	70,781,325 bp from pter
Size:	106,914 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TGFA_HUMAN, P01135 (See protein sequence)

Recommended Name: Protransforming growth factor alpha precursor

Size: 160 amino acids; 17006 Da

Subunit: Interacts with the PDZ domains of MAGI3, SDCBP and SNTA1. The interaction with SDCBP, is required for the

targeting to the cell surface. In the endoplasmic reticulum, in its immature form (i.e. with a prosegment and lacking

full N-glycosylation), interacts with CNIH. In the Golgi apparatus, may form a complex with CNIH and GORASP2.

Interacts (via cytoplasmic C-terminal domain) with NKD2

Subcellular location: Transforming growth factor alpha: Secreted, extracellular space

Subcellular location: Protransforming growth factor alpha: Cell membrane; Single-pass type I membrane protein

6/8 PDB 3D structures from and Proteopedia for TGFA (see all 8):

1GK5 (3D)

1MOX (3D)

1YUF (3D)

1YUG (3D)

2TGF (3D)

3E50 (3D)

Secondary accessions: A8K286 Q15577 Q53SK7 Q9BS56 Q9UEI3 Q9UKM1 Q9UKM2 Q9UKM3

Alternative splicing: 5 isoforms: P01135-1 P01135-2 P01135-3 P01135-4 P01135-5

Explore the universe of human proteins at neXtProt for TGFA: NX_P01135

TGFA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001093161.1 NP_003227.1

ENSEMBL proteins:

ENSP00000295400 ENSP00000407432 ENSP00000387493 ENSP00000404099 ENSP00000414127

ENSP00000404131 ENSP00000377787

Human Recombinant Protein Products:

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	Novus Biologicals TGFA Proteins Novus Biologicals TGFA Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	12743035
GO:0005634	nucleus	IEA	--
GO:0005886	plasma membrane	NAS	10918572
GO:0009986	cell surface	IDA	12743035
GO:0016021	integral to membrane	IEA	--

TGFA for ontologies About GeneDecksing

TGFA Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TGFA for domains About GeneDecksing

3 InterPro domains/families:

IPR015497 EGF_rcpt_ligand

IPR000742 EG-like_dom

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry P01135

ProtoNet protein and cluster: P01135

2 Blocks protein families:

IPB001336 Type I EGF signature

IPB006210 Type I EGF

UniProtKB/Swiss-Prot: TGFA_HUMAN, P01135

Similarity: Contains 1 EGF-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TGFA_HUMAN, P01135

Function: 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

Genatlas biochemistry entry for TGFA:

transforming growth factor,alpha,17kDa,expressed in macrophages,brain cells,keratinocyte,also expressed at high levels

in the epithelial tissue of the medial edge of the palatal shelves at the time of shelf fusion in mice,epidermal

growth factor family,involved in mitogenesis and angiogenenesis,potentially mutated in cleft lip with or without cleft

palate

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFA
		8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFA (see all 53):
		hsa-miR-323-3p hsa-miR-2052 hsa-miR-301a hsa-miR-374a hsa-miR-759 hsa-miR-34b hsa-miR-23a hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: TGFA 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFA

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IEA	--
GO:0004708	MAP kinase kinase activity	IDA	11278323
GO:0005154	epidermal growth factor receptor binding	IDA	11278323
GO:0005515	protein binding	IPI	15064403
GO:0008083	growth factor activity	IDA	11278323

TGFA for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TGFA: Tgfa^tm1Ard Tgfa^tm1Unc
     12 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Tgfa):

adipose tissue	cardiovascular system	craniofacial	digestive/alimentary	endocrine/exocrine gland
growth/size	immune system	integument	muscle	reproductive system
skeleton	vision/eye

TGFA for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/26 super-pathways (see all 26) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic Pathways in Synovial Fibroblasts

8/14 pathways (see all 14)
Apoptotic Pathways in Synovial Fibroblasts	1.00	ERK5 Signaling	0.61
p53 Mediated Apoptosis	0.84	eIF2 Pathway	0.60
Mitochondrial Apoptosis	0.73	Rac1 Pathway	0.58
Telomerase Components in Cell Signaling	0.72	Nuclear Receptor Activation by Vitamin-A	0.57

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

TGF-Beta Pathway

	TGF-Beta Pathway	1.00			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.50

Nanog in Mammalian ESC Pluripotency

	Nanog in Mammalian ESC Pluripotency	1.00			14-3-3 Induced Intracellular Signaling	0.59
	GSK3 Signaling	0.61			eNOS Signaling	0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for TGFA

	Development ERBB-family signaling
	Development EGFR signaling pathway

5/55 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TGFA (see all 55)

	Nuclear Receptor Activation by Vitamin-A
	Paxillin Interactions
	Telomerase Components in Cell Signaling
	Mitochondrial Apoptosis
	Molecular Mechanisms of Cancer

2 Cell Signaling Technology (CST) Pathways for TGFA

	Angiogenesis
	Tyrosine Kinases / Adaptors

3 GeneGo (Thomson Reuters) Pathways for TGFA

	Development ERBB-family signaling
	Mucin expression in CF via TLRs, EGFR signaling pathways
	Development EGFR signaling pathway

4 BioSystems Pathways for TGFA

	ErbB signaling pathway
	Direct p53 effectors
	ErbB receptor signaling network
	FOXM1 transcription factor network

1 PharmGKB Pathway for TGFA

EGFR Inhibitor Pathway, Pharmacodynamics

5/7 Kegg Pathways (Kegg details for TGFA) (see all 7):

	ErbB signaling pathway
	Pathways in cancer
	Renal cell carcinoma
	Pancreatic cancer
	Glioma

TGFA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TGFA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/27 Interacting proteins for TGFA (P01135^{2, 3} ENSP00000295400⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAGI2	Q86UL8²^,³, ENSP00000346151⁴	MINT-1894829 I2D: score=2 STRING: ENSP00000346151
MAGI3	Q5TCQ9²^,³, ENSP00000304604⁴	MINT-1894801 I2D: score=3 STRING: ENSP00000304604
NKD2	Q969F2³, ENSP00000296849⁴	I2D: score=3 STRING: ENSP00000296849
GORASP1	Q9BQQ3³, ENSP00000313869⁴	I2D: score=2 STRING: ENSP00000313869
ERBB2	P04626³, ENSP00000269571⁴	I2D: score=1 STRING: ENSP00000269571

About this table

Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPK cascade	IDA	11278323
GO:0000187	activation of MAPK activity	IDA	11278323
GO:0001525	angiogenesis	IEA	--
GO:0001934	positive regulation of protein phosphorylation	--	--
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	--

TGFA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TGFA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TGFA
10/139 Novoseek chemical compound relationships for TGFA gene (see all 139) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ag 1478	73.4	11	15355899 (1), 10722725 (1), 11178955 (1), 12600830 (1) (see all 9)
pd153035	72.5	4	8980296 (1), 16443372 (1), 11178955 (1)
tyrosine	68.5	153	1572907 (5), 7980404 (4), 9716460 (2), 2302227 (2) (see all 94)
gefitinib	64.9	34	16230376 (5), 11350918 (4), 16585207 (4), 16568376 (2) (see all 11)
8-chloro-camp	60.1	5	1850725 (1), 9815703 (1), 8381655 (1), 14691008 (1)
vegf	59.7	244	18685072 (7), 19628074 (6), 15379270 (5), 10938383 (5) (see all 99)
estrogen	57.9	151	7720660 (8), 9605408 (4), 11698343 (4), 8360257 (3) (see all 61)
thymidine	56.9	53	1717146 (3), 8033155 (2), 7714549 (2), 11466216 (2) (see all 35)
cetuximab	53.5	11	19276250 (3), 16806963 (1), 16675911 (1), 20047592 (1) (see all 5)
tgf beta1	53	29	14627647 (6), 10598907 (3), 10928772 (3), 16139244 (2) (see all 12)

Search CenterWatch for drugs/clinical trials and news about TGFA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TGFA gene (2 alternative transcripts):

NM_001099691.2 NM_003236.3

Unigene Cluster for TGFA:

Transforming growth factor, alpha

Hs.170009 [show with all ESTs]

Unigene Representative Sequence: NM_003236

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000295400(uc010fdq.3 uc010fdr.3 uc002sgs.4 uc002sgt.4 uc002sgu.3 uc002sgv.3 uc002sgw.3)

ENST00000419940 ENST00000445399 ENST00000418333 ENST00000450929 ENST00000444975

ENST00000394241 ENST00000460808 ENST00000474101

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		hsa-miR-323-3p hsa-miR-2052 hsa-miR-301a hsa-miR-374a hsa-miR-759 hsa-miR-34b hsa-miR-23a hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: TGFA 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFA

Additional cDNA sequence:

AF149096.1 AF149097.1 AF149098.1 AK290151.1 AK309066.1 AK309220.1 AK312899.1 AY548763.1

BC005308.1 BT006833.1 K03222.1 M31172.1 X70340.1

3 DOTS entries:

DT.409431 DT.92422695 DT.120952753

24/68 AceView cDNA sequences (see all 68):

BU728692 BI760767 BC005308 BQ942216 AI858901 BX093407 AV727156 AL698738

AW340378 AY548763 M31172 AA933077 BM453873 BM663384 AW452101 BF062540

BT006833 AF149096 BV206634 K03222 BI964715 AI347589 BG740369 AF149097

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TGFA (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11
SP1:							-		-				-		-												-
SP2:							-		-				-		-												-
SP3:							-		-				-		-												-		-		-
SP4:							-		-				-		-
SP5:							-		-				-		-												-		-		-

ECgene alternative splicing isoforms for TGFA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TGFA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

TGFA expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Early Embryo (Zygote)

Morula

8-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Morula

Morula Cells

Early Embryo

Early Embryo (Zygote)

Zygote

Early Embryo

Skeletal Muscle

Hyoid Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Mandibular Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Adipose

Body Subcutaneous White Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

See TGFA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TGFA

SOURCE GeneReport for Unigene cluster: Hs.170009

UniProtKB/Swiss-Prot: TGFA_HUMAN, P01135

Tissue specificity: Isoform 1, isoform 3 and isoform 4 are expressed in keratinocytes and tumor-derived cell lines

SABiosciences Expression via Pathway-Focused PCR Arrays including TGFA (see all 9):

Growth Factors in human mouse rat

Angiogenic Growth Factors in human mouse rat

Wound Healing in human mouse rat

Liver Cancer in human mouse rat

Angiogenesis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TGFA gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TGFA¹	transforming growth factor, alpha	74.89(n) 74.03(a)		414743 NM_001001614.1 NP_001001614.1
zebrafish (Danio rerio)	Actinopterygii	tgfa¹	transforming growth factor, alpha	64.17(n) 57.94(a)		100034402 NM_001144052.1 NP_001137524.1

ENSEMBL Gene Tree for TGFA (if available)
TreeFam Gene Tree for TGFA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TGFA gene

MSANTD3-TMEFF1² BTC² TMEFF2² TMEFF1²

4 SIMAP similar genes for TGFA using alignment to 8 protein entries: TGFA_HUMAN (see all proteins):

BTC EGF EPGN NRG4

TGFA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs147716972^1,2	C,	unknown	70480126(+)	`AGTTAA/C/GCACAG`	2	--	int¹		0	--	--	--	--
rs11466307^1,2	C,F,H,	--	70410145(-)	`CCTGTG/AAACTT`	2	--	ds500¹		19		NA EU NS EA WA	2144
rs11466305^1,2	H	--	70410342(-)	`TTGATG/TTGGTA`	2	--	ds500¹		7		NA EU NS EA	512
rs11466304^1,2	C,F,H,	--	70410388(-)	`TCCCAG/TTGTAT`	2	--	ds500¹		16		NA EU NS EA WA	1814
rs11466302^1,2	C,H,	--	70411142(-)	`CAGGAG/AACCCC`	2	--	ut3¹ ese³		7		NA EU NS EA WA	490
rs3771525^1,2	C,	--	70411157(-)	`GGCTCC/TAACAC`	2	--	ut3¹ ese³		0	--	--	--	--
rs11466301^1,2	C,F,H,	--	70411218(-)	`TTCGAG/AGGCAC`	2	--	ut3¹		9		NA EU NS EA WA	630
rs11466300^1,2	C,F,	--	70411437(-)	`CACACG/ATGGAA`	2	--	ut3¹ ese³		5		NA EU WA	214
rs11466299^1,2	C,F,H	--	70411464(-)	`GATCTG/AGAAGA`	2	--	ut3¹		6		NA EU NS	498
rs11466298^1,2	C,F,H,	--	70411553(-)	`TCCCAC/GTGCTC`	2	--	ut3¹ ese³		8		NA EU NS EA WA	628

HapMap Linkage Disequilibrium report for TGFA (70674412 - 70781325 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TGFA: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TGFA

DNA2.0 Custom Variant and Variant Library Synthesis for TGFA

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TGFA for disorders           About GeneDecksing

OMIM gene information: 190170    OMIM disorders: --

20/211 diseases for TGFA (see all 211):    About MalaCards

cleft lip/palate cleft lip acanthosis nigricans bronchiolo-alveolar adenocarcinoma

spinal cord injury restrictive dermopathy middle ear cholesteatoma cleft palate

renal clear cell carcinoma non-small cell lung carcinoma cleft lip +/- cleft palate congenital diaphragmatic hernia

hypothalamic hamartomas barrett's esophagus nonpapillary renal cell carcinoma squamous cell carcinoma

pre-eclampsia oral submucous fibrosis precocious puberty gastroesophageal reflux disease

6 diseases from the University of Copenhagen DISEASES database for TGFA:

Cleft lip Cleft palate Carcinoma Breast cancer

Cholesteatoma Hepatocellular carcinoma

10/97 Novoseek disease relationships for TGFA gene (see all 97) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	70.4	926	11727256 (8), 1746909 (5), 1519669 (5), 7687782 (5) (see all 99)
menetrier disease	64.4	35	1451986 (5), 8636814 (5), 8522306 (4), 15887112 (3) (see all 9)
cholesteatoma middle ear	61.7	8	8817015 (2), 8369082 (1), 12725186 (1), 11078065 (1)
cleft lip	61.3	76	18788876 (3), 9003904 (3), 15449618 (3), 17334078 (3) (see all 36)
cleft palate	60.4	62	15449618 (3), 8105683 (3), 17334078 (3), 10552925 (2) (see all 28)
carcinoma squamous cell	59.6	106	9828815 (5), 8843456 (4), 1863074 (3), 9625170 (3) (see all 54)
breast cancer	58.7	185	8508397 (5), 1912611 (4), 10668644 (4), 8137282 (3) (see all 90)
colon carcinoma	57.3	62	8014008 (4), 8398905 (4), 11973637 (3), 9935234 (3) (see all 29)
carcinoma	56.9	189	8523820 (5), 9542514 (4), 8371007 (4), 8625090 (3) (see all 99)
hyperplasia	56.1	80	10233260 (2), 10708482 (2), 8371007 (2), 12607604 (2) (see all 51)

Genetic Association Database (GAD): TGFA
Human Genome Epidemiology (HuGE) Navigator: TGFA (44 documents)
Tumor Gene Database (TGDB): TGFA

Export disorders for TGFA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TGFA gene, integrated from 9 sources (see all 2052):
(articles sorted by number of sources associating them with TGFA)

Utopia: connect your pdf to the dynamic
world of online information

Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. (PubMed id 10552925)^{1, 2, 3, 9} Machida J....Murray J.C. (1999)
[The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate] (PubMed id 15449618)^{1, 4, 9} Zhang W.G....Liang J. (2004)
Transforming growth factor-alpha: characterization of the BamHI, RsaI, and TaqI polymorphic regions. (PubMed id 8100397)^{1, 2, 9} Qian J.F.... May E. (1993)
Oral clefts, maternal smoking, and TGFA: a meta-analysis of gene-environment interaction. (PubMed id 15643916)^{1, 4, 9} Zeiger J.S....Liang K.Y. (2005)
[Possible association due to linkage disequilibrium of TGFA, RARA and BCL3 with nonsyndromic cleft lip with or without cleft palate in the Chilean population] (PubMed id 16311697)^{1, 4, 9} Suazo J....Blanco R. (2005)
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study. (PubMed id 15222785)^{1, 4, 9} Passos-Bueno M.R....Araujo B. (2004)
Cysteines 153 and 154 of transmembrane transforming growth factor- alpha are palmitoylated and mediate cytoplasmic protein association. (PubMed id 8910478)^{1, 2, 9} Shum L.... Derynck R. (1996)
EGF receptor-independent action of TGF-alpha protects Naked2 from AO7-mediated ubiquitylation and proteasomal degradation. (PubMed id 18757723)^{1, 2} Ding W....Coffey R.J. (2008)
Microsatellite polymorphisms in the epidermal growth factor receptor (EGFR) gene and the transforming growth factor-alpha (TGFA) gene and risk of oral cancer in Puerto Rico. (PubMed id 15864136)^{1, 4} Kang D....Hayes R.B. (2005)
Genotyping for cytokine polymorphisms: allele frequencies in the Italian population. (PubMed id 12558814)^{1, 4} Uboldi de Capei M.U....Curtoni E.S. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7039	HGNC: 11765	AceView: TGFA	Ensembl:ENSG00000163235	euGenes: HUgn7039
ECgene: TGFA	Kegg: 7039	H-InvDB: TGFA

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TGFA	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TGFA	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for TGFA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TGFA gene:
Search GeneIP for patents involving TGFA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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transforming growth factor, alpha

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