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

Chr5:134357669-134456716 bp, - strand From Ensembl annotation of GRCm38   99048 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 zebrafish

Protein SuperFamily: general transcription factor II-I
Gene Tree: Gtf2ird1

Human homologs

Human Homolog		GTF2IRD1, GTF2I repeat domain containing 1
NCBI Gene ID		9569
neXtProt AC		NX_Q9UHL9
Human Synonyms		BEN, CREAM1, GTF3, hMusTRD1alpha1, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12
Human Chr (Location)		7q11.23; chr7:73868120-74016931 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(423) : Targeted(3) Gene trapped(419) Transgenic(1)
 

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 Using Mouse Gtf2ird1 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (8 annotations)

Process	embryo development, multicellular organismal development, ...
Component	cytoplasm, nucleus
Function	DNA binding, sequence-specific DNA binding transcription factor activity

External Resources: FuncBase

Expression

Literature Summary: (12 records)
Data Summary: Results (899)    Tissues (609)    Images (123)
Theiler Stages: 1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	515
RNA in situ	124
In situ reporter (knock in)	249
RT-PCR	11

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(33) Genomic(7) cDNA(21) Primer pair(5)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000023079 (Evidence)
Entrez Gene	57080 (Evidence)
DFCI	TC1577393, TC1586125, TC1587325, TC1594837, TC1595136, TC1641847, TC1659136, TC1715516
DoTS	DT.101397808, DT.101397809, DT.101397810, DT.101397811, DT.101397812, DT.101397813, DT.101397817, DT.102534526, DT.103562306, DT.91599617, DT.94240123, DT.97348015, DT.97348018, DT.97348021, DT.99854985
NIA Mouse Gene Index	U026800
Consensus CDS Project	CCDS39302.1, CCDS39303.1, CCDS39304.1, CCDS39305.1, CCDS39306.1, CCDS39307.1, CCDS51657.1
International Mouse Knockout Project Status	Gtf2ird1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000023079	Ensembl Gene Model | MGI Sequence Detail	99048	C57BL/6J
transcript	ENSMUST00000100652	Ensembl | MGI Sequence Detail	4683	Not Applicable
polypeptide	ENSMUSP00000098217	Ensembl | MGI Sequence Detail	1104	Not Applicable

All sequences(117) RefSeq(22) UniProt(7)

Polymorphisms

All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs(579 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190478 Schneider T, et al., Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome. Behav Brain Res. 2012 Aug 1;233(2):458-73
All references(80)

Other accession IDs

MGD-MRK-28115, MGI:104821, MGI:2137647, MGI:3583799