Gene Gene information from NCBI Gene database.
Entrez ID 7050
Gene name TGFB induced factor homeobox 1
Gene symbol TGIF1
Synonyms (NCBI Gene)
HPE4TGIF
Chromosome 18
Chromosome location 18p11.31
Summary 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 charact
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs28939693 A>G,T Pathogenic, likely-benign Coding sequence variant, missense variant
rs121909066 C>G Pathogenic Missense variant, coding sequence variant
rs121909067 C>G Pathogenic Missense variant, coding sequence variant
rs121909068 A>C,G Pathogenic Missense variant, coding sequence variant
rs121909069 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
314
miRTarBase ID miRNA Experiments Reference
MIRT004287 hsa-miR-21-5p Western blot 19906824
MIRT641082 hsa-miR-186-5p HITS-CLIP 23824327
MIRT641081 hsa-miR-6507-5p HITS-CLIP 23824327
MIRT641080 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT483883 hsa-miR-3613-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HDAC4 Activation 17610967
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10764806
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 10764806
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602630 11776 ENSG00000177426
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15583
Protein name Homeobox protein TGIF1 (5'-TG-3'-interacting factor 1)
Protein 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. A
PDB 2LK2 , 6FQP , 6FQQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05920 Homeobox_KN 182 221 Homeobox KN domain Family
Sequence
MVLAQSRVSAGVGSPHCSGSGGGGSDSFPWPASHPGNPQCSFSTAFLASPRLSRGTLAYL
PPAPWSSLATPSALLGSSCAPPPPPARCPQPRALSPELGTKAGPRRPHRWELPRSPSQGA
QGPAPRRRLLETMKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILR
DWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTIS
RRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPS
VICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSG
LFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  TGF-beta signaling pathway   Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
128
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Holoprosencephaly 4 Pathogenic; Likely pathogenic rs121909067, rs121909070, rs2510043843, rs2510045920, rs2510032473, rs1555650923 RCV000007395
RCV000007398
RCV003333665
RCV003455849
RCV003881687
RCV000640538
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs238533 RCV005904150
Clear cell carcinoma of kidney Benign rs2229334 RCV005894743
Disorder of sexual differentiation Conflicting classifications of pathogenicity rs11571509 RCV001568337
Gastric cancer Benign rs238533 RCV005904153
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Juvenile Associate 24709693
Arthritis Rheumatoid Inhibit 36614150
Bone Diseases Associate 34391399
Breast Neoplasms Associate 34391399
Bronchiolitis Obliterans Syndrome Inhibit 25979625
Carcinoma Hepatocellular Associate 12593671
Central Nervous System Vascular Malformations Associate 21940735, 22310223
Chromosome 18p deletion syndrome Associate 30122583
Colorectal Neoplasms Associate 29986714
Combined Pituitary Hormone Deficiency Associate 34440302