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Gtf2ird1 Gene Detail
Summary
  • Symbol
    Gtf2ird1
  • Name
    general transcription factor II I repeat domain-containing 1
  • Synonyms
    BEN, binding factor for early enhancer, Cream1, ESTM9, GTF3, MusTRD1, WBSCR11
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861942
    NCBI Gene: 57080
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:134386510-134485570 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 74.55 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2912 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1861942
 protein coding gene Chr5:134386510-134485628 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030156
 protein coding gene Chr5:138755932-138865150 (-)
A/J MGP_AJ_G0030124
 protein coding gene Chr5:132864311-132968392 (-)
AKR/J MGP_AKRJ_G0030057
 protein coding gene Chr5:137167074-137280940 (-)
BALB/cJ MGP_BALBcJ_G0030134
 protein coding gene Chr5:134199739-134301700 (-)
C3H/HeJ MGP_C3HHeJ_G0029850
 protein coding gene Chr5:137704091-137817671 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030587
 protein coding gene Chr5:143979021-144086424 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027811
 protein coding gene Chr5:127145048-127247382 (-)
CAST/EiJ MGP_CASTEiJ_G0029259
 protein coding gene Chr5:137151719-137258321 (-)
CBA/J MGP_CBAJ_G0029820
 protein coding gene Chr5:149583588-149705026 (-)
DBA/2J MGP_DBA2J_G0029971
 protein coding gene Chr5:132762516-132866910 (-)
FVB/NJ MGP_FVBNJ_G0029927
 protein coding gene Chr5:131889252-131996233 (-)
LP/J MGP_LPJ_G0030059
 protein coding gene Chr5:139225591-139342027 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029958
 protein coding gene Chr5:152682504-152788206 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030627
 protein coding gene Chr5:136893554-137001150 (-)
PWK/PhJ MGP_PWKPhJ_G0028974
 protein coding gene Chr5:131782747-131888784 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028809
 protein coding gene Chr5:134467033-134579991 (-)
WSB/EiJ MGP_WSBEiJ_G0029333
 protein coding gene Chr5:137639858-137752621 (-)



Homology
more
  • Human Ortholog
    GTF2IRD1, GTF2I repeat domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GTF2IRD1, GTF2I repeat domain containing 1
  • Synonyms
    BEN, CREAM1, GTF3, hMusTRD1alpha1, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12
  • Links
    NCBI Gene ID: 9569
    neXtProt AC: NX_Q9UHL9
    UniProt: Q9UHL9

  • Chr Location
    7q11.23; chr7:74453790-74602605 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gtf2ird1 mouse models

Human Disease Mouse Models
      
IDs
 View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 4 alleles in 5 genetic backgrounds
    31 phenotypes from multigenic genotypes
    3 images
    67 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.
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
less
  • All GO Annotations
    17
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1759
  • Tissues
    660
  • cDNA Data
    83
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023079 Ensembl Gene Model | MGI Sequence Detail 99061 C57BL/6J ±  kb
    transcript ENSMUST00000100652 Ensembl | MGI Sequence Detail 3693 Not Applicable  
    polypeptide ENSMUSP00000098217 Ensembl | MGI Sequence Detail 1104 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 111
      Genomic 7
      cDNA 90
      Primer pair 14

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-28115, MGI:104821, MGI:2137647, MGI:3583799
    References
    more
    • Summaries
      All 120
      Developmental Gene Expression 18
      Diseases 9
      Gene Ontology 7
      Phenotypes 67
    • 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:350932 Schmithals C, et al., Tumour-specific activation of a tumour-blood transport improves the diagnostic accuracy of blood tumour markers in mice. EBioMedicine. 2024 Jul;105:105178
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory