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

Gene ID: 389524, updated on 5-Mar-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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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

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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 (15) 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)

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

  • 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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6EKJ0.1 GenPept UniProtKB/Swiss-Prot:Q6EKJ0

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