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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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    Alleles

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

    General gene information

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    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

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    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)

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    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

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