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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
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

  • Chr Location
    7q11.23; chr7:74657665-74760692 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Gtf2i mouse models

Human Disease Mouse Models
       Williams-Beuren Syndrome; WBS   OMIM: 194050 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 5 alleles in 3 genetic backgrounds
    3 images
    20 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
    158
  • Gene trapped
    147
  • Targeted
    11
  • Genomic Mutations
    4 involving Gtf2i
  • Incidental Mutations
    Mutagenetix , APF
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
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  • All GO Annotations
    19
  • GO References
    9
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
    157
  • Tissues
    112
  • cDNA Data
    20
  • Literature Summary
    13
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036983 VEGA Gene Model | MGI Sequence Detail 76927 C57BL/6J ±  kb
transcript OTTMUST00000095070 VEGA | MGI Sequence Detail 4141 Not Applicable  
polypeptide OTTMUSP00000053010 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 31
    Genomic 6
    cDNA 22
    Primer pair 3

    Microarray probesets 7
Other
Accession IDs
less
MGI:2149785
References
more
  • Summaries
    All 70
    Developmental Gene Expression 13
    Diseases 5
    Gene Ontology 9
    Phenotypes 20
  • 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:216195 Segura-Puimedon M, et al., Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder. Hum Mol Genet. 2014 Dec 15;23(24):6481-94
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
09/20/2016
MGI 6.05 		The Jackson Laboratory