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

    Gene ID: 389524, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Genomic context

    See GTF2IRD2B 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 (75092556..75149817)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76296499..76353770)
    105.20220307 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001003795.3NP_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:107179
      GTF2I; GTF2I-like repeat
    2. NM_001368301.1NP_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_001368302.1NP_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_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
      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)