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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TGIF1 Gene

protein-coding GIFtS: 63
GCID: GC18P003412

TGFB-induced factor homeobox 1

(Previous name: TGFB-induced factor (TALE family homeobox) )
(Previous symbols: HPE4, TGIF)

Explore 136 diseases affiliated with
TGIF1 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
TGFB-Induced Factor Homeobox 1¹ ²		5'-TG-3' Interacting Factor²
TGIF¹ ² ³ ⁵		Homeobox Protein TGIF²
HPE4¹ ² ⁵		Homeobox Protein TGIF1²
5'-TG-3'-Interacting Factor 1² ³		TALE Homeobox TG-Interacting Factor²
TGFB-Induced Factor (TALE Family Homeobox)¹		Transforming Growth Factor-Beta-Induced Factor²

External Ids:	HGNC: 11776¹	Entrez Gene: 7050²	Ensembl: ENSG00000177426⁷	OMIM: 602630⁵	UniProtKB: Q15583³

Export aliases for TGIF1 gene to outside databases

Previous GC identifers: GC18P003404 GC18P003376

(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 TGIF1:

The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical

homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds

to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II

promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of

the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may

participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are

associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been

observed at this locus and eight variants, encoding four distinct isoforms, are described. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583

Function: Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter

(CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid

responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation

of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear

signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities

Gene Wiki entry for TGIF1 (Homeobox protein TGIF1)

(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_000018.9 NC_018929.1 NT_010859.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TGIF1 gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGIF1 promoter sequence

Search SABiosciences Chromatin IP Primers for TGIF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGIF1

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

Entrez Gene cytogenetic band: 18p11.3 Ensembl cytogenetic band: 18p11.31 HGNC cytogenetic band: 18p11.31

TGIF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGIF1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18P003412: view genomic region (about GC identifiers)

Start:	3,411,606 bp from pter	End:	3,459,976 bp from pter
Size:	48,371 bases	Orientation:	plus 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: TGIF1_HUMAN, Q15583 (See protein sequence)

Recommended Name: Homeobox protein TGIF1

Size: 401 amino acids; 43013 Da

Subunit: Interacts with CTBP, SMAD2, SMAD3 and HDAC1

Subcellular location: Nucleus

1 PDB 3D structure from and Proteopedia for TGIF1:

2LK2 (3D)

Secondary accessions: F8VZB6 Q6ICR0 Q8N5X9 Q9NRS0

Alternative splicing: 3 isoforms: Q15583-1 Q15583-2 Q15583-3

Explore the universe of human proteins at neXtProt for TGIF1: NX_Q15583

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15583

TGIF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (8 alternative transcripts):

NP_003235.1 NP_733796.2 NP_775299.1 NP_775300.1 NP_775301.1 NP_775302.1 NP_775303.1 NP_777480.1

ENSEMBL proteins:

ENSP00000449287 ENSP00000449531 ENSP00000447747 ENSP00000448121 ENSP00000449973

ENSP00000384970 ENSP00000339631 ENSP00000384133 ENSP00000448934 ENSP00000446944

ENSP00000462285 ENSP00000450025 ENSP00000343969 ENSP00000327959 ENSP00000449580

ENSP00000449722 ENSP00000446838 ENSP00000449501 ENSP00000385206 ENSP00000383031

Reactome Protein details: Q15583
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: TGIF1 OriGene Protein Over-expression Lysate (see all 11): TGIF1 OriGene Custom Protein Services for TGIF1
	GenScript Custom Purified and Recombinant Proteins Services for TGIF1
	Novus Biologicals TGIF1 Proteins Novus Biologicals TGIF1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TGIF1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--

TGIF1 for ontologies About GeneDecksing

TGIF1 Antibody Products:

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	Abcam antibodies for TGIF1
	Uscn Antibodies for TGIF1
	ThermoFisher Antibodies for TGIF1

Assay Products for TGIF1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TGIF1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TGIF1

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

TGIF1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001356 Homeodomain

IPR009057 Homeodomain-like

IPR008422 Homeobox_KN_domain

Graphical View of Domain Structure for InterPro Entry Q15583

ProtoNet protein and cluster: Q15583

UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583

Similarity: Belongs to the TALE/TGIF homeobox family

Similarity: Contains 1 homeobox DNA-binding 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: TGIF1_HUMAN, Q15583

Function: Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter

(CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid

responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation

of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear

signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities

		10/309 SABiosciences Target genes for TGIF1 (see all 309):
		ABAT ACPT ACTG1 ACTL8 ADAM30 AIPL1 ALPP ANGPTL5 ANKRD20A1 ANKRD20A2

miRNA Products:		miRTarBase miRNAs that target TGIF1: hsa-mir-21 (MIRT004287)

		OriGene 3'-UTR Clone (see all 8): TGIF1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGIF1
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate TGIF1 (see all 19):
		hsa-miR-3673 hsa-miR-25 hsa-miR-139-5p hsa-miR-144 hsa-miR-23a hsa-miR-92b hsa-miR-3163 hsa-miR-92a

		SwitchGear 3'UTR luciferase reporter plasmid: TGIF1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGIF1 (see all 7) OriGene shRNA RFP: TGIF1 OriGene siRNA: TGIF1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGIF1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TGIF1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TGIF1 (see all 14) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TGIF1 (see all 8) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 8): TGIF1 (NM_174886)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGIF1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGIF1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TGIF1
		Search LifeMap BioReagents cell lines for TGIF1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGIF1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0003714	transcription corepressor activity	TAS	10764806
GO:0005515	protein binding	--	--
GO:0043565	sequence-specific DNA binding	IEA	--

TGIF1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TGIF1:

Elongated cells

Animal Models:
Mouse knock-outs for TGIF1: Tgif1^tm1Ychn Tgif1^tm1Dwot Tgif1^tm1.1Caw Tgif1^tm1Pah
12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Tgif1):

cardiovascular system	cellular	craniofacial	embryogenesis	growth/size
homeostasis/metabolism	limbs/digits/tail	mortality/aging	nervous system	normal
other	reproductive system

TGIF1 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 - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	1.00			Downregulation of SMAD2/3:SMAD4 transcriptional activity	0.56
	Signaling by TGF-beta Receptor Complex	0.61

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

TGF Beta Signaling Pathway

TGF Beta Signaling Pathway

1.00

EGFR1 Signaling Pathway

EGFR1 Signaling Pathway

1.00

TGF-beta Receptor Signaling Pathway

TGF-beta Receptor Signaling Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for TGIF1 (see all 6)

	EGFR1 Signaling Pathway
	TGF Beta Signaling Pathway
	TGF-beta Receptor Signaling Pathway
	Id Signaling Pathway
	Coregulation of Androgen receptor activity

5/6 Reactome Pathways for TGIF1 (see all 6)

	Signaling by TGF-beta Receptor Complex
	Downregulation of SMAD2/3:SMAD4 transcriptional activity
	Generic Transcription Pathway
	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
	Signal Transduction

TGIF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TGIF1

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

5/41 Interacting proteins for TGIF1 (Q15583^{2, 3} ENSP00000327959⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LGALS8	O00214²^,³, ENSP00000309576⁴	MINT-6798878 MINT-6799089 MINT-6799024 MINT-6799071 MINT-6799039 MINT-6799002 MINT-6799057 MINT-6798916 MINT-6798824 MINT-6798990 I2D: score=1 STRING: ENSP00000309576
PML	P29590²^,³, ENSP00000268058⁴	MINT-6799106 MINT-6799144 MINT-6799161 I2D: score=2 STRING: ENSP00000268058
MED31	Q9Y3C7²^,³	MINT-64253 I2D: score=5
LRIF1	Q5T3J3²^,³	MINT-64252 I2D: score=4
CTBP1	Q13363²^,³, ENSP00000290921⁴	MINT-14492 MINT-14493 I2D: score=4 STRING: ENSP00000290921

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	TAS	--
GO:0001843	neural tube closure	IEA	--
GO:0006351	transcription, DNA-dependent	TAS	--
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	--

TGIF1 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

TGIF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TGIF1
10/55 Novoseek chemical compound relationships for TGIF1 gene (see all 55) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tgf beta1	82.9	12	15034302 (1), 18039529 (1), 19242377 (1), 20021962 (1) (see all 12)
cmdb7	69.7	2	9662260 (1), 9663468 (1)
vegf	49.9	29	16562680 (7), 10027603 (1), 9808988 (1), 14668934 (1) (see all 22)
4-hydroxytamoxifen	35.7	2	11530283 (1), 1551100 (1)
retinoic acid	34.6	21	16192631 (3), 17998248 (2), 16428452 (2), 16534781 (1) (see all 11)
estrogen	29.5	11	2334912 (1), 18463975 (1), 8831902 (1), 11115535 (1) (see all 10)
ribonucleic acid	25.5	1	7962292 (1)
procollagen	24.8	2	7806036 (1), 7538779 (1)
threonine	24	1	17379087 (1)
progesterone	15.9	6	8831902 (2), 2334912 (1), 11517968 (1), 15239838 (1)

Search CenterWatch for drugs/clinical trials and news about TGIF1

(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 TGIF1 gene (8 alternative transcripts):

NM_003244.2 NM_170695.2 NM_173207.1 NM_173208.1 NM_173209.1 NM_173210.1 NM_173211.1 NM_174886.1

Unigene Cluster for TGIF1:

TGFB-induced factor homeobox 1

Hs.373550 [show with all ESTs]

Unigene Representative Sequence: NM_170695

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000552383 ENST00000547233 ENST00000550958 ENST00000548489(uc002klv.3)

ENST00000549780 ENST00000549253 ENST00000551557 ENST00000405385(uc002klx.3)

ENST00000343820(uc002klw.3 uc002kly.3) ENST00000407501 ENST00000546979

ENST00000551402(uc010dkm.1) ENST00000577543 ENST00000551541 ENST00000345133

ENST00000330513(uc002klz.3 uc002kma.3) ENST00000549546 ENST00000549468

miRNA Products:		OriGene 3'-UTR Clone (see all 8): TGIF1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGIF1
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate TGIF1 (see all 19):
		hsa-miR-3673 hsa-miR-25 hsa-miR-139-5p hsa-miR-144 hsa-miR-23a hsa-miR-92b hsa-miR-3163 hsa-miR-92a

		SwitchGear 3'UTR luciferase reporter plasmid: TGIF1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGIF1 (see all 7) OriGene shRNA RFP: TGIF1 OriGene siRNA: TGIF1
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TGIF1 (see all 14) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TGIF1 (see all 8) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TGIF1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TGIF1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGIF1

Additional cDNA sequence:

AF179900.1 AK291112.1 AK307230.1 AK309471.1 BC000814.1 BC031268.1 CR450333.1 X89750.1

14 DOTS entries:

DT.417003 DT.100793116 DT.100793120 DT.95125380 DT.91756825 DT.91756822 DT.95125382 DT.100793124

DT.100034650 DT.100037433 DT.100793117 DT.121084917 DT.121622287 DT.99952368

24/225 AceView cDNA sequences (see all 225):

BQ888419 BQ024240 BU618622 NM_173211 AV681706 BE296707 BQ677431 NM_170695

AI470880 NM_173208 CD678125 BE699435 BE699434 AI446468 BU145439 CD365040

BG896761 CB161219 BE939581 BF112087 CD742795 NM_003244 AI362900 AL701784

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TGIF1 (see all 10) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	·	8g
SP1:							-				-		-		-		-		-		-		-
SP2:																							-
SP3:			-		-		-		-		-		-		-		-		-		-		-
SP4:							-		-		-		-		-		-		-		-		-
SP5:											-		-		-		-		-		-		-

ECgene alternative splicing isoforms for TGIF1

(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

TGIF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGAACAGGA

About this image

TGIF1 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Myocardium

Cardiac Fibroblasts

Epicardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Definitive endoderm-like cells (A scalable, suspensi...)

See TGIF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TGIF1

SOURCE GeneReport for Unigene cluster: Hs.373550

SABiosciences Expression via Pathway-Focused PCR Arrays including TGIF1:

Fibrosis in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

Transcription Factors in human mouse rat

T Helper Cell Differentiation in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TGIF1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGIF1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGIF1

(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 eukaryotes.

Orthologs for TGIF1 gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TGIF1¹	TGFB-induced factor homeobox 1	76.46(n) 79.55(a)		396339 NM_205379.1 NP_990710.1
lizard (Anolis carolinensis)	Reptilia	TGIF1⁶	--	67(a)	1 ↔ 1	4(42444640-42448977)
African clawed frog (Xenopus laevis)	Amphibia	tgif-prov²	TGFB-induced factor (TALE family homeobox)	75.88(n)		BC044016.1
zebrafish (Danio rerio)	Actinopterygii	wufb33g11²	wufb33g11	75.46(n)		321756 AY391467.1
fruit fly (Drosophila melanogaster)	Insecta	vis⁶ achi⁶	achintya	13(a) 12(a)	many ↔ many many ↔ many	2R(8395396-8398311) 2R(8399035-8402556)
thale cress (Arabidopsis thaliana)	eudicotyledons	BLH5⁶ BEL1⁶ (see all 13)	homeobox protein BEL1-like protein (see all 13)	9(a) 9(a) (see all 13)	many ↔ many many ↔ many (see all 13)	2(11637164-11639537) 5(16580044-16584008)
rice (Oryza sativa)	Liliopsida	-- -- (see all 14)	homeodomain protein, putative, expressed (see all 14)	9(a) 9(a) (see all 14)	many ↔ many many ↔ many (see all 14)	10(20730228-20735139) 1(36443976-36448908)

ENSEMBL Gene Tree for TGIF1 (if available)
TreeFam Gene Tree for TGIF1 (if available)

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

Paralogs for TGIF1 gene

MEIS2² TGIF2² TGIF2LY² PKNOX1² PKNOX2² TGIF2LX² MEIS1² MEIS3²

18/23 SIMAP similar genes for TGIF1 using alignment to 12 protein entries: TGIF1_HUMAN (see all proteins) (see all similar genes):

TGIF2LY TGIF2LX PKNOX1 TGIF2-C20ORF24 TGIF2 MEIS2

PKNOX2 MKX MEIS1 IRX6 MEIS3P1 MEIS3P2

PBX1 PBX2 PBX3 MEIS3 IRX4 IRX1

TGIF1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for TGIF1
PGOHUM00000261253 PGOHUM00000259344

(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 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28939693^1,2	C	pathogenic	3422255(+)	`AAATCA/TGTTCA`	16	Q L	mis¹		0	--	--	--	--
rs121909068^1,2	C,F	pathogenic	3422386(+)	`ACCCAA/GCCCTA`	16	T A	mis¹		2		NA EU	5865
rs73938479^1,2	C,	--	3374804(+)	`TGTTGG/ACAGGC`	1	--	us2k¹		1		WA	2
rs4797111^1,2		--	3374813(+)	`GCTTGC/TTGCTG`	1	--	us2k¹		1		NA	120
rs11872346^1,2	C,F,H	--	3375019(+)	`AAACAG/ATAATA`	1	--	us2k¹		1		NA	4
rs12454834^1,2	C,F,A,H,	--	3375916(+)	`TCATTT/GATACA`	1	--	us2k¹		7		NA WA CSA	13
rs61071934^1,2	C,	--	3376455(+)	`TGAGCC/TTGGTG`	1	--	us2k¹		4		WA CSA	122
rs111371287^1,2		--	3376458(+)	`GCCTGG/ATGACA`	1	--	us2k¹		2		CSA WA	120
rs7237625^1,2	C,F,A,	--	3376459(+)	`CCTGGT/CGACAC`	1	--	us2k¹		1		WA	118
rs9961745^1,2	C,F,H,	--	3376512(+)	`GCATGA/GCCTCA`	1	--	us2k¹		11		NS NA WA	1192

HapMap Linkage Disequilibrium report for TGIF1 (3411606 - 3459976 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TGIF1
1 CNV: 49980
Human Gene Mutation Database (HGMD): TGIF1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TGIF1

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(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

TGIF1 for disorders           About GeneDecksing

OMIM gene information: 602630
OMIM disorders: 142946
UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583

Defects in TGIF1 are the cause of holoprosencephaly type 4 (HPE4) [MIM:142946]. Holoprosencephaly (HPE)

[MIM:236100] is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly

separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several

distinct facies and phenotypic variability

20/136 diseases for TGIF1 (see all 136): About MalaCards

retinol binding protein camurati-engelmann disease holoprosencephaly lattice corneal dystrophy

corneal dystrophy cleft lip/palate chronic venous leg ulcers age related macular degeneration

carpal tunnel syndrome graft versus host disease lichen planus myopia-2

plasmodium falciparum malaria heart block oral lichen planus exencephaly

biliary atresia congenital heart block cleft lip cervical intraepithelial neoplasia

1 disease from the University of Copenhagen DISEASES database for TGIF1:

Holoprosencephaly

10/95 Novoseek disease relationships for TGIF1 gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
holoprosencephaly	85.8	36	17158784 (3), 16475235 (2), 11427533 (2), 10995736 (2) (see all 23)
corneal dystrophy, lattice type i	65.7	1	12586172 (1)
camurati-engelmann disease	65.5	1	11810278 (1)
lattice corneal dystrophy	64.4	4	15559315 (2), 19092416 (1), 10328397 (1)
avellino corneal dystrophy	63	1	17096061 (1)
corneal dystrophy	60.7	7	15885785 (2), 11692612 (1), 17096061 (1), 19381088 (1) (see all 6)
necrosis	51.4	69	7998677 (1), 10027603 (1), 10321703 (1), 11316069 (1) (see all 68)
tumors	49.4	85	16562680 (3), 7998677 (1), 10321703 (1), 15569984 (1) (see all 78)
liver fibrosis	41.9	2	1900574 (1), 15137003 (1)
choriocarcinoma	40	1	12606473 (1)

GeneTests: TGIF1

Holoprosencephaly

Human Genome Epidemiology (HuGE) Navigator: TGIF1 (5 documents)

Export disorders for TGIF1 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 TGIF1 gene, integrated from 9 sources (see all 665):
(articles sorted by number of sources associating them with TGIF1)

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

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. (PubMed id 10835638)^{1, 2, 3, 9} Gripp K.W....Elledge S.J. (2000)
A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. (PubMed id 8537382)^{1, 2, 3, 9} Bertolino E.... Clerc R.G. (1995)
Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription. (PubMed id 10764806)^{1, 2, 9} Yang Y.... Mouradian M.M. (2000)
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PubMed id 15221788)^{1, 2, 9} Dubourg C.... David V. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF. (PubMed id 10995736)^{1, 9} Melhuish T.A. and Wotton D. (2000)
EGF antagonizes TGF-beta-induced tropoelastin expression in lung fibroblasts via stabilization of Smad corepressor TGIF. (PubMed id 18441095)^{1, 9} Yang S....Panchenko M.P. (2008)
Genomic structure, alternative splicing and expression of TG-interacting factor, in human myeloid leukemia blasts and cell lines. (PubMed id 18455519)^{1, 9} Hamid R....Brandt S.J. (2008)
Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. (PubMed id 15223781)^{1, 9} Scavello G.S....Young T.L. (2004)
Regulation of TG-interacting factor by transforming growth factor-beta. (PubMed id 12593671)^{1, 9} Chen F....Chen Y. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7050	HGNC: 11776	AceView: TGIF	Ensembl:ENSG00000177426	euGenes: HUgn7050
ECgene: TGIF1	H-InvDB: TGIF1

(According to HUGE)
About This Section

(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 TGIF1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGIF1

Intellectual Property for TGIF1 gene
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Patent Information for TGIF1 gene:
Search GeneIP for patents involving TGIF1

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

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TGFB-induced factor homeobox 1

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AVELLINO CORNEAL DYSTROPHY
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TGIF1 Gene

TGFB-induced factor homeobox 1

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