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Gtf2i Gene Detail
Summary
  • Symbol
    Gtf2i
  • Name
    general transcription factor II I
  • Synonyms
    6030441I21Rik, BAP-135, TFII-I
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202722
    NCBI Gene: 14886
  • Gene Overview
    MyGene.info: GTF2I
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr5:134237834-134314760 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      76927 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 74.48 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    GTF2I, general transcription factor IIi
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GTF2I, general transcription factor IIi
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
  • Links
    NCBI Gene ID: 2969
    neXtProt AC: NX_P78347
    UniProt: P78347

  • Chr Location
    7q11.23; chr7:74657665-74760692 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Gtf2i mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 7 alleles in 5 genetic backgrounds
    3 images
    21 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    10
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
    157
  • Tissues
    112
  • cDNA Data
    21
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000036983 VEGA Gene Model | MGI Sequence Detail 76927 C57BL/6J ±  kb
    transcript OTTMUST00000095068 VEGA | MGI Sequence Detail 4455 Not Applicable  
    polypeptide OTTMUSP00000053008 VEGA | MGI Sequence Detail 998 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      795 from dbSNP Build 142
    • PCR
      1
    • RFLP
      1
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 6
      cDNA 23
      Primer pair 3
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2149785
    References
    more
    • Summaries
      All 81
      Developmental Gene Expression 14
      Diseases 4
      Gene Ontology 10
      Phenotypes 21
    • Earliest
      J:113672 Yang W, et al., BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc Natl Acad Sci U S A. 1997 Jan 21;94(2):604-9
    • Latest
      J:236328 Enkhmandakh B, et al., Generation of a mouse model for a conditional inactivation of Gtf2i allele. Genesis. 2016 Jul;54(7):407-12
    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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    Send questions and comments to User Support.     		last database update
    07/31/2018
    MGI 6.12     		The Jackson Laboratory