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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
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:134266688-134343614 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 74.48 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    795 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202722
 protein coding gene Chr5:134266686-134346571 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030155
 protein coding gene Chr5:138611720-138700031 (-)
A/J MGP_AJ_G0030123
 protein coding gene Chr5:132740576-132818710 (-)
AKR/J MGP_AKRJ_G0030056
 protein coding gene Chr5:137018777-137102664 (-)
BALB/cJ MGP_BALBcJ_G0030133
 protein coding gene Chr5:134072381-134155221 (-)
C3H/HeJ MGP_C3HHeJ_G0029849
 protein coding gene Chr5:137570694-137652014 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030586
 protein coding gene Chr5:143839075-143921864 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027810
 protein coding gene Chr5:127014541-127092647 (-)
CAST/EiJ MGP_CASTEiJ_G0029258
 protein coding gene Chr5:137015776-137101236 (-)
CBA/J MGP_CBAJ_G0029819
 protein coding gene Chr5:149433499-149526328 (-)
DBA/2J MGP_DBA2J_G0029970
 protein coding gene Chr5:132642948-132719611 (-)
FVB/NJ MGP_FVBNJ_G0029926
 protein coding gene Chr5:131772087-131849199 (-)
LP/J MGP_LPJ_G0030058
 protein coding gene Chr5:139093735-139173357 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029957
 protein coding gene Chr5:152547718-152628712 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030626
 protein coding gene Chr5:136759798-136846711 (-)
PWK/PhJ MGP_PWKPhJ_G0028973
 protein coding gene Chr5:131657471-131737800 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028808
 protein coding gene Chr5:134327380-134410664 (-)
WSB/EiJ MGP_WSBEiJ_G0029332
 protein coding gene Chr5:137496854-137577925 (-)



Homology
more
  • Human Ortholog
    GTF2I, general transcription factor IIi
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GTF2I, general transcription factor IIi
  • 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; chr7:74650231-74760692 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gtf2i mouse models

Human Disease Mouse Models
      
IDs
 View 4 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
    41 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 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
    24
  • GO References
    12
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
non-membrane-bounded 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
    971
  • Tissues
    128
  • cDNA Data
    21
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000060261 Ensembl Gene Model | MGI Sequence Detail 76927 C57BL/6J ±  kb
    transcript ENSMUST00000059042 Ensembl | MGI Sequence Detail 4455 Not Applicable  
    polypeptide ENSMUSP00000049625 Ensembl | MGI Sequence Detail 998 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 6
      cDNA 23
      Primer pair 12
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2149785
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 19
      Diseases 4
      Gene Ontology 12
      Phenotypes 41
    • 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:343071 Lopez-Tobon A, et al., GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders. Sci Adv. 2023 Dec;9(48):eadh2726
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory