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Gtf2ird1
Gene Detail
Symbol

Name
ID
Gtf2ird1
general transcription factor II I repeat domain-containing 1
MGI:1861942
Synonyms
Alb-c-myc line 166.8, Alb/c-myc line 166.8, BEN, binding factor for early enhancer, c-myc line 166.8, Cream1, ESTM9, GTF3, MusTRD1, Tg(Alb1-Myc)166.8Sst, WBSCR11
Feature Type
protein coding gene
Genetic Map
Chromosome 5
74.55 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr5:134357656-134456716 bp, - strand
From VEGA annotation of GRCm38

  99061 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4158  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GTF2IRD1
Protein SuperFamily: general transcription factor II-I
Gene Tree: Gtf2ird1

Human
homologs
GTF2IRD1, GTF2I repeat domain containing 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 9569
neXtProt AC: NX_Q9UHL9

Human Synonyms: BEN, CREAM1, GTF3, hMusTRD1alpha1, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12

Human Chr (Location): 7q11.23; chr7:74453790-74602605 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(426) : Gene trapped(419) Targeted(6) Transgenic(1)
Genomic Mutations involving Gtf2ird1 (3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have behavioral defects and exhibit a mild craniofacial defect with variable penetrance.
 
Human Diseases Modeled in Mice Using Gtf2ird1 (1)    Mutations Annotated to Human Diseases (4)    Phenotype Images(3)
Interactions
Gtf2ird1 interacts with 195 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process embryo development, multicellular organismal development, ...
Component cytoplasm, nucleoplasm, ...
Function DNA binding, transcription factor activity, sequence-specific DNA binding
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (901)    Tissues (630)    Images (124)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 516
RNA in situ 125
In situ reporter (knock in) 249
RT-PCR 11
cDNA source data(81)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gtf2ird1    NEW 
Molecular
reagents
All nucleic(98) Genomic(7) cDNA(86) Primer pair(5)
Microarray probesets(4)
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055742 VEGA Gene Model | MGI Sequence Detail 99061 C57BL/6J ±  kb
transcript OTTMUST00000137922 VEGA | MGI Sequence Detail 3693 Not Applicable 
polypeptide OTTMUSP00000072572 VEGA | MGI Sequence Detail 1104 Not Applicable 

For the selected sequences
All sequences(213) RefSeq(60) UniProt(7)
Polymorphisms
All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(761 from dbSNP Build 137)    SNPs within 2kb including multiple locations(771)
Protein-related
information
ResourceIDDescription
InterPro IPR004212 GTF2I-like repeat
InterPro IPR016659 Transcription factor II-I
Protein Ontology PR:000008323 general transcription factor II-I repeat domain-containing protein 1
References
(Earliest) J:4527 Murakami H, et al., Transgenic mouse model for synergistic effects of nuclear oncogenes and growth factors in tumorigenesis: interaction of c-myc and transforming growth factor alpha in hepatic oncogenesis. Cancer Res. 1993 Apr 15;53(8):1719-23
(Latest) J:217399 Masuda T, et al., The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina. J Neurosci. 2014 Nov 12;34(46):15356-68
All references(87)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-28115, MGI:104821, MGI:2137647, MGI:3583799

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory