Gtf2i
Gene Detail

Symbol Name ID

Gtf2i general transcription factor II I MGI:1202722

Synonyms

6030441I21Rik, BAP-135, TFII-I

Feature Type

protein coding gene

Genetic Map

Chromosome 5

74.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr5:134237834-134314760 bp, - strand From VEGA annotation of GRCm38   76927 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7748  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: general transcription factor II-I
Gene Tree: Gtf2i

Human homologs

Human Homolog		GTF2I, general transcription factor IIi
NCBI Gene ID		2969
neXtProt AC		NX_P78347
Human Synonyms		BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
Human Chr (Location)		7q11.23; chr7:74657665-74760692 (+)  GRCh38

Mutations, alleles, and phenotypes

All mutations/alleles(158) : Gene trapped(150) Targeted(8)
Genomic Mutations involving Gtf2i (1)
Incidental mutations (data from 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.

 
Human Diseases Modeled Using Mouse Gtf2i (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(2)

Interactions

Gtf2i interacts with 178 markers (Mir19b-1, Mir19b-2, Mir27a, ...)

View All

Gene Ontology (GO) classifications

All GO classifications: (15 annotations)

Process	embryo development, negative regulation of angiogenesis, ...
Component	cell projection, cytoplasm, ...
Function	DNA binding, mitogen-activated protein kinase binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (13 records)

Data Summary: Results (116)    Tissues (75)    Images (19)
Theiler Stages: 2, 3, 4, 5, 16, 17, 18, 20, 21, 22, 23, 28

Assay Type	Results
Immunohistochemistry	3
RNA in situ	97
RT-PCR	16

cDNA source data(20)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas

Molecular reagents

All nucleic(31) Genomic(6) cDNA(22) Primer pair(3)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000036983 (Evidence)
Ensembl Gene Model	ENSMUSG00000060261 (Evidence)
Entrez Gene	14886 (Evidence)
DFCI	TC1573217, TC1584785, TC1590515, TC1593562, TC1596621, TC1602098, TC1609777, TC1623122, TC1654312
DoTS	DT.101404752, DT.101739394, DT.102537672, DT.103571382, DT.103571391, DT.110691670, DT.55140453, DT.55265152, DT.91345415, DT.91412557, DT.94261084, DT.94356252, DT.97399290
NIA Mouse Gene Index	U026798, U146382, U214129
PDB	1Q60
Consensus CDS Project	CCDS39299.1, CCDS39300.1, CCDS39301.1, CCDS57386.1, CCDS57387.1
International Mouse Knockout Project Status	Gtf2i

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036983	VEGA Gene Model | MGI Sequence Detail	76927	C57BL/6J
transcript	OTTMUST00000095068	VEGA | MGI Sequence Detail	4455	Not Applicable
polypeptide	OTTMUSP00000053008	VEGA | MGI Sequence Detail	998	Not Applicable

All sequences(209) RefSeq(50) UniProt(9)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(795 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR004212	GTF2I-like repeat
InterPro	IPR016659	Transcription factor II-I
Protein Ontology	PR:000008322	general transcription factor II-I

References

(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:200765 Segura-Puimedon M, et al., TFII-I regulates target genes in the PI-3K and TGF-beta signaling pathways through a novel DNA binding motif. Gene. 2013 Sep 25;527(2):529-36
All references(72)
Disease annotation references (2)

Other accession IDs

MGI:2149785