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

Gene ID: 84163, updated on 5-Apr-2020

Summary

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
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

Genomic context

See GTF2IRD2 in Genome Data Viewer
Location:
7q11.23
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74796144..74851576, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74210483..74267872, 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 prohibitin pseudogene 15 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene stromal antigen 3-like 2 (pseudogene) Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 5 Neighboring gene speedy/RINGO cell cycle regulator family member E12, pseudogene

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
transition between fast and slow fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_053172.1 RefSeqGene

    Range
    5001..60433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281447.1NP_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, AK291431, BC061590
    Consensus CDS
    CCDS64682.1
    UniProtKB/Swiss-Prot
    Q86UP8
    Related
    ENSP00000481017.1, ENST00000614386.1
  2. NM_001368300.1NP_001355229.1  general transcription factor II-I repeat domain-containing protein 2A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211433, MH721918
    Related
    ENSP00000498563.1, ENST00000651129.1
  3. NM_173537.4NP_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
    Related
    ENSP00000406723.3, ENST00000451013.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    74796144..74851576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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