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    GTF2IRD2 GTF2I repeat domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 84163, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GTF2IRD2provided by HGNC
    Official Full Name
    GTF2I repeat domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30775
    See related
    Ensembl:ENSG00000196275 MIM:608899; AllianceGenome:HGNC:30775
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FP630; GTF2IRD2A; GTF2IRD2 alpha
    Summary
    This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in ovary (RPKM 19.9), endometrium (RPKM 13.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTF2IRD2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74796151..74851605, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75998467..76053913, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74210490..74267901, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene general transcription factor IIi Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene PHB1 pseudogene 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74181785-74182286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74186639-74187184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74201830-74202532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74203411-74204070 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene uncharacterized LOC124901673 Neighboring gene STAG3 cohesin complex component like 2 (pseudogene) Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 5 Neighboring gene speedy/RINGO cell cycle regulator family member E12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2. Serrano-Juárez CA, et al. J Int Neuropsychol Soc, 2018 Oct. PMID 30375319
    2. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. Porter MA, et al. PLoS One, 2012. PMID 23118870, Free PMC Article
    3. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Edelmann L, et al. J Med Genet, 2007 Feb. PMID 16971481, Free PMC Article
    4. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. Makeyev AV, et al. Proc Natl Acad Sci U S A, 2004 Jul 27. PMID 15243160, Free PMC Article
    5. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Del Campo M, et al. Am J Hum Genet, 2006 Apr. PMID 16532385, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. atypical Williams Syndrome patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition
      Title: Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.
    2. We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling
      Title: A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
    3. Williams-Beuren syndrome patients are hemizygous for the GTF2IRD2 gene.
      Title: Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
    4. There is high indentity between CTF2IRD2 and CTF2I, which suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms.
      Title: Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
    5. GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region.
      Title: GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2013-12-04)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2013-12-04)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21423, FLJ37938, FLJ41722, FLJ42343, FLJ75057, MGC75203

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    general transcription factor II-I repeat domain-containing protein 2A
    Names
    GTF2I repeat domain-containing protein 2, alpha
    GTF2I repeat domain-containing protein 2A
    general transcription factor II i repeat domain 2 alpha
    transcription factor GTF2IRD2-alpha

    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.

    Genomic

    1. NG_053172.2 RefSeqGene

      Range
      5000..60454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281447.3 → NP_001268376.1  general transcription factor II-I repeat domain-containing protein 2A isoform 2

      See identical proteins and their annotated locations for NP_001268376.1

      Status: REVIEWED

      Source sequence(s)
      AC211424
      Consensus CDS
      CCDS64682.1
      UniProtKB/Swiss-Prot
      Q86UP8
      Related
      ENSP00000481017.1, ENST00000614386.1

    2. NM_001368300.2 → NP_001355229.1  general transcription factor II-I repeat domain-containing protein 2A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC211424, AC211433
      Consensus CDS
      CCDS94122.1
      UniProtKB/TrEMBL
      A0A494C0I1, A0A494C1N8
      Related
      ENSP00000498563.1, ENST00000651129.1

    3. NM_001388079.1 → NP_001375008.1  general transcription factor II-I repeat domain-containing protein 2A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A494C1N8
      Conserved Domains (3) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:552 → 635
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:434 → 496
      zf-C2H2_12; Zinc-finger C2H2-type

    4. NM_001388080.1 → NP_001375009.1  general transcription factor II-I repeat domain-containing protein 2A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A494C1N8
      Conserved Domains (3) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:525 → 608
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:407 → 469
      zf-C2H2_12; Zinc-finger C2H2-type

    5. NM_001388081.1 → NP_001375010.1  general transcription factor II-I repeat domain-containing protein 2A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A494C1N8
      Conserved Domains (3) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:521 → 604
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:403 → 465
      zf-C2H2_12; Zinc-finger C2H2-type

    6. NM_001388082.1 → NP_001375011.1  general transcription factor II-I repeat domain-containing protein 2A isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A494C1N8
      Conserved Domains (3) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:502 → 585
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:384 → 446
      zf-C2H2_12; Zinc-finger C2H2-type

    7. NM_001388083.1 → NP_001375012.1  general transcription factor II-I repeat domain-containing protein 2A isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Conserved Domains (3) summary
      pfam02946
      Location:261 → 335
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:476 → 559
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:358 → 420
      zf-C2H2_12; Zinc-finger C2H2-type

    8. NM_001388084.1 → NP_001375013.1  general transcription factor II-I repeat domain-containing protein 2A isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Conserved Domains (3) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:476 → 559
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:358 → 420
      zf-C2H2_12; Zinc-finger C2H2-type

    9. NM_001388085.1 → NP_001375014.1  general transcription factor II-I repeat domain-containing protein 2A isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Conserved Domains (3) summary
      pfam02946
      Location:162 → 236
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:382 → 465
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:264 → 326
      zf-C2H2_12; Zinc-finger C2H2-type

    10. NM_001388086.1 → NP_001375015.1  general transcription factor II-I repeat domain-containing protein 2A isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Conserved Domains (3) summary
      pfam02946
      Location:140 → 214
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:355 → 438
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:237 → 299
      zf-C2H2_12; Zinc-finger C2H2-type

    11. NM_001388087.1 → NP_001375016.1  general transcription factor II-I repeat domain-containing protein 2A isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A494C1N8
      Conserved Domains (3) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat
      pfam14291
      Location:530 → 613
      DUF4371; Domain of unknown function (DUF4371)
      pfam18658
      Location:412 → 474
      zf-C2H2_12; Zinc-finger C2H2-type

    12. NM_001388088.1 → NP_001375017.1  general transcription factor II-I repeat domain-containing protein 2A isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A087WW90
      Conserved Domains (1) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat

    13. NM_001388089.1 → NP_001375018.1  general transcription factor II-I repeat domain-containing protein 2A isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      UniProtKB/TrEMBL
      A0A087WW90
      Conserved Domains (1) summary
      pfam02946
      Location:107 → 181
      GTF2I; GTF2I-like repeat

    14. NM_001388460.1 → NP_001375389.1  general transcription factor II-I repeat domain-containing protein 2A isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Conserved Domains (1) summary
      pfam02946
      Location:162 → 234
      GTF2I; GTF2I-like repeat

    15. NM_001388461.1 → NP_001375390.1  general transcription factor II-I repeat domain-containing protein 2A isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Conserved Domains (1) summary
      pfam02946
      Location:136 → 208
      GTF2I; GTF2I-like repeat

    16. NM_173537.5 → NP_775808.4  general transcription factor II-I repeat domain-containing protein 2A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433
      Consensus CDS
      CCDS5576.1
      UniProtKB/Swiss-Prot
      A0A0A0MSY2, A8K5W6, B3KUZ2, Q69G40, Q6EKI8, Q6EKI9, Q6NVW2, Q6P7N8, Q86UP8, Q86WX4, Q8ND85, Q8NDE5
      UniProtKB/TrEMBL
      A0A494C1N8
      Related
      ENSP00000406723.3, ENST00000451013.7

    RNA

    1. NR_170881.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    2. NR_170882.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    3. NR_170883.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    4. NR_170884.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    5. NR_170885.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    6. NR_170886.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    7. NR_170887.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    8. NR_170888.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC211424, AC211433

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      74796151..74851605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75998467..76053913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UP8.3 GenPept UniProtKB/Swiss-Prot:Q86UP8

    Gene LinkOut

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