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    GTF2IRD2B GTF2I repeat domain containing 2B [ Homo sapiens (human) ]

    Gene ID: 389524, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GTF2IRD2Bprovided by HGNC
    Official Full Name
    GTF2I repeat domain containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:33125
    See related
    Ensembl:ENSG00000174428 MIM:608900; AllianceGenome:HGNC:33125
    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
    GTF2IRD2; GTF2IRD2A
    Summary
    This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 24.7), endometrium (RPKM 16.2) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GTF2IRD2B in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75092556..75149817)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76296499..76353770)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74508347..74565623)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74387918-74388452 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74408133-74408753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74836976-74837481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74785909-74786408 Neighboring gene RCC1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18290 Neighboring gene Williams-Beuren syndrome telomeric block B recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74267014-74267744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74578607-74579107 Neighboring gene neutrophil cytosolic factor 1C (pseudogene) Neighboring gene general transcription factor IIi pseudogene 1 Neighboring gene PHB1 pseudogene 6

    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. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. Hinsley TA, et al. Protein Sci, 2004 Oct. PMID 15388857, Free PMC Article
    2. Evolution of general transcription factors. Gunbin KV, et al. J Mol Evol, 2013 Feb. PMID 23229069
    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. Transcriptional fates of human-specific segmental duplications in brain. Dougherty ML, et al. Genome Res, 2018 Oct. PMID 30228200, Free PMC Article
    5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38253, FLJ40950, MGC87488

    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 2B
    Names
    GTF2I repeat domain-containing protein 2A
    GTF2I repeat domain-containing protein 2B
    GTF2IRD2 beta
    General transcription factor II-I repeat domain-containing protein 2A
    Transcription factor GTF2IRD2-alpha
    general transcription factor 2 I repeat domain-containing 2 beta
    transcription factor GTF2IRD2-beta

    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_001003795.3 → NP_001003795.1  general transcription factor II-I repeat domain-containing protein 2B isoform 1

      See identical proteins and their annotated locations for NP_001003795.1

      Status: REVIEWED

      Source sequence(s)
      AY312850, BX647624
      Consensus CDS
      CCDS34659.1
      UniProtKB/Swiss-Prot
      B2RNE9, Q69GU6, Q6EKJ0, Q8N979, Q9H739
      UniProtKB/TrEMBL
      A0A494C1N8
      Related
      ENSP00000480524.1, ENST00000472837.7
      Conserved Domains (1) summary
      pfam02946
      Location:107 → 179
      GTF2I; GTF2I-like repeat

    2. NM_001368301.1 → NP_001355230.1  general transcription factor II-I repeat domain-containing protein 2B isoform 2

      Status: REVIEWED

      Source sequence(s)
      BU179187, DA737308
      Consensus CDS
      CCDS94124.1
      Related
      ENSP00000481706.1, ENST00000614064.4

    3. NM_001368302.1 → NP_001355231.1  general transcription factor II-I repeat domain-containing protein 2B isoform 3

      Status: REVIEWED

      Source sequence(s)
      BX647624, MH721920
      UniProtKB/TrEMBL
      A0A494C1N8
      Related
      ENSP00000499147.1, ENST00000651028.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      75092556..75149817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      76296499..76353770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6EKJ0.1 GenPept UniProtKB/Swiss-Prot:Q6EKJ0

    Gene LinkOut

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

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