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Gtf2ird1 Gene Detail
Summary
  • Symbol
    Gtf2ird1
  • Name
    general transcription factor II I repeat domain-containing 1
  • 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
  • IDs
    MGI:1861942
    NCBI Gene: 57080
  • Gene Overview
    MyGene.info: GTF2IRD1
Location & Maps
more
  • Sequence Map
    Chr5:134357656-134456716 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      99061 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 74.55 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    GTF2IRD1, GTF2I repeat domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GTF2IRD1, GTF2I repeat domain containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BEN, CREAM1, GTF3, hMusTRD1alpha1, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12
  • Links
    NCBI Gene ID: 9569
    neXtProt AC: NX_Q9UHL9

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

Human Diseases
more
  • Diseases
    1 with Gtf2ird1 mouse models

Human Disease Mouse Models
       Williams-Beuren Syndrome; WBS   OMIM: 194050 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 4 alleles in 5 genetic backgrounds
    30 phenotypes from multigenic genotypes
    3 images
    45 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    427
  • Gene trapped
    419
  • Targeted
    7
  • Transgenic
    1
  • Genomic Mutations
    4 involving Gtf2ird1
  • Incidental Mutations
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 withvariable penetrance.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    750 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    29 Sequences
  • Protein Ontology
    PR:000008323 general transcription factor II-I repeat domain-containing protein 1
  • InterPro Domains
    IPR004212 GTF2I-like repeat
    IPR016659 Transcription factor II-I
Molecular
Reagents
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  • All nucleic 98
    Genomic 7
    cDNA 86
    Primer pair 5

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-28115, MGI:104821, MGI:2137647, MGI:3583799
References
more
  • Summaries
    All 86
    Developmental Gene Expression 14
    Diseases 11
    Gene Ontology 6
    Phenotypes 45
  • 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:225882 Schmithals C, et al., Improving Drug Penetrability with iRGD Leverages the Therapeutic Response to Sorafenib and Doxorubicin in Hepatocellular Carcinoma. Cancer Res. 2015 Aug 1;75(15):3147-54

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory