U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Gtf2ird2 GTF2I repeat domain containing 2 [ Mus musculus (house mouse) ]

Gene ID: 114674, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
Gtf2ird2provided by MGI
Official Full Name
GTF2I repeat domain containing 2provided by MGI
Primary source
MGI:MGI:2149780
See related
Ensembl:ENSMUSG00000015942 AllianceGenome:MGI:2149780
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1700012P16Rik
Summary
Predicted to enable DNA binding activity. Acts upstream of or within transition between fast and slow fiber. Located in nucleus. Is expressed in genitourinary system and tooth. Orthologous to several human genes including GTF2IRD2B (GTF2I repeat domain containing 2B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E14 (RPKM 5.0), testis adult (RPKM 4.9) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Gtf2ird2 in Genome Data Viewer
Location:
5 G2; 5 74.45 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (134211629..134246988)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (134182557..134218146)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene reculator of chromosome condensation 1 like Neighboring gene STARR-positive B cell enhancer ABC_E3627 Neighboring gene STARR-positive B cell enhancer ABC_E105 Neighboring gene STARR-positive B cell enhancer ABC_E4791 Neighboring gene predicted gene, 57734 Neighboring gene STARR-positive B cell enhancer mm9_chr5:134712733-134713034 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene general transcription factor II I Neighboring gene STARR-positive B cell enhancer ABC_E8084 Neighboring gene STARR-seq mESC enhancer starr_14530

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Sakurai T, et al. Autism Res, 2011 Feb. PMID 21328569
  2. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Ohazama A, et al. Dev Dyn, 2007 Oct. PMID 17823943
  3. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. Tipney HJ, et al. Eur J Hum Genet, 2004 Jul. PMID 15100712
  4. GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members. Palmer SJ, et al. J Cell Sci, 2012 Nov 1. PMID 22899722, Free PMC Article
  5. GUDMAP: the genitourinary developmental molecular anatomy project. McMahon AP, et al. J Am Soc Nephrol, 2008 Apr. PMID 18287559

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within transition between fast and slow fiber IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
general transcription factor II-I repeat domain-containing protein 2
Names
GTF2I repeat domain-containing protein 2
transcription factor GTF2IRD2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001359852.1 → NP_001346781.1  general transcription factor II-I repeat domain-containing protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC093346
    Conserved Domains (1) summary
    pfam02946
    Location:104 → 176
    GTF2I; GTF2I-like repeat

  2. NM_053266.1 → NP_444496.1  general transcription factor II-I repeat domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_444496.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY014963
    Consensus CDS
    CCDS19719.1
    UniProtKB/Swiss-Prot
    Q99NI3
    Related
    ENSMUSP00000016086.4, ENSMUST00000016086.10
    Conserved Domains (1) summary
    pfam02946
    Location:104 → 176
    GTF2I; GTF2I-like repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    134211629..134246988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164734.1 → XP_036020627.1  general transcription factor II-I repeat domain-containing protein 2 isoform X5

    Conserved Domains (1) summary
    pfam02946
    Location:135 → 209
    GTF2I; GTF2I-like repeat

  2. XM_036164733.1 → XP_036020626.1  general transcription factor II-I repeat domain-containing protein 2 isoform X1

    Conserved Domains (3) summary
    pfam02946
    Location:135 → 209
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:520 → 655
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:456 → 515
    zf-C2H2_12; Zinc-finger C2H2-type

  3. XM_036164735.1 → XP_036020628.1  general transcription factor II-I repeat domain-containing protein 2 isoform X6

    Conserved Domains (1) summary
    pfam02946
    Location:135 → 209
    GTF2I; GTF2I-like repeat

  4. XM_017320610.2 → XP_017176099.2  general transcription factor II-I repeat domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    pfam02946
    Location:135 → 209
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:501 → 636
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:437 → 496
    zf-C2H2_12; Zinc-finger C2H2-type

  5. XM_006504345.5 → XP_006504408.1  general transcription factor II-I repeat domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    pfam02946
    Location:204 → 276
    GTF2I; GTF2I-like repeat

  6. XM_006504343.3 → XP_006504406.1  general transcription factor II-I repeat domain-containing protein 2 isoform X3

    Conserved Domains (1) summary
    pfam02946
    Location:87 → 159
    GTF2I; GTF2I-like repeat
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99NI3.1 GenPept UniProtKB/Swiss-Prot:Q99NI3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous