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

Gene ID: 84163, updated on 7-Dec-2014
Official Symbol
GTF2IRD2provided by HGNC
Official Full Name
GTF2I repeat domain containing 2provided by HGNC
Primary source
HGNC:HGNC:30775
See related
Ensembl:ENSG00000196275; HPRD:16402; MIM:608899; Vega:OTTHUMG00000181527
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]
See GTF2IRD2 in Epigenomics, MapViewer
Location:
7q11.23
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 prohibitin pseudogene 15 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene stromal antigen 3-like 2 (pseudogene) Neighboring gene speedy/RINGO cell cycle regulator family member E1 pseudogene Neighboring gene postmeiotic segregation increased 2 pseudogene 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

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
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
general transcription factor II-I repeat domain-containing protein 2A
Names
general transcription factor II-I repeat domain-containing protein 2A
transcription factor GTF2IRD2-alpha
GTF2I repeat domain-containing protein 2A
GTF2I repeat domain-containing protein 2, alpha
general transcription factor II i repeat domain 2 alpha

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_001281447.1NP_001268376.1  general transcription factor II-I repeat domain-containing protein 2A isoform 2

    See proteins identical to NP_001268376.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' coding exons and its transcription extends past a splice site used in the variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC211424, AK291431, BC061590
    Consensus CDS
    CCDS64682.1
    UniProtKB/Swiss-Prot
    Q86UP8
    Related
    ENSP00000481017, OTTHUMP00000266952, ENST00000614386, OTTHUMT00000456479
  2. NM_173537.3NP_775808.3  general transcription factor II-I repeat domain-containing protein 2A isoform 1

    See proteins identical to NP_775808.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC211424, AK291431, AL833932, AL834153, AY260739
    Consensus CDS
    CCDS5576.1
    UniProtKB/Swiss-Prot
    Q86UP8
    Related
    ENSP00000406723, OTTHUMP00000269261, ENST00000451013, OTTHUMT00000456474
    Conserved Domains (1) summary
    pfam02946
    Location:107182
    GTF2I; GTF2I-like repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

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

mRNA and Protein(s)

  1. XM_005277612.2XP_005277669.1  

    Conserved Domains (1) summary
    pfam02946
    Location:107182
    GTF2I; GTF2I-like repeat

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    74355560..74410992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)