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

Gene ID: 84163, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:30775
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
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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 (74796151..74851605, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75998467..76053913, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74210490..74267901, 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 PHB1 pseudogene 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74181785-74182286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74186639-74187184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74201830-74202532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74203411-74204070 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene uncharacterized LOC124901673 Neighboring gene STAG3 cohesin complex component like 2 (pseudogene) Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 5 Neighboring gene speedy/RINGO cell cycle regulator family member E12

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. Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2. Serrano-Juárez CA, et al. J Int Neuropsychol Soc, 2018 Oct. PMID 30375319
  2. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. Porter MA, et al. PLoS One, 2012. PMID 23118870, Free PMC Article
  3. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Edelmann L, et al. J Med Genet, 2007 Feb. PMID 16971481, Free PMC Article
  4. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. Makeyev AV, et al. Proc Natl Acad Sci U S A, 2004 Jul 27. PMID 15243160, Free PMC Article
  5. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Del Campo M, et al. Am J Hum Genet, 2006 Apr. PMID 16532385, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. atypical Williams Syndrome patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition
    Title: Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.
  2. We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling
    Title: A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
  3. Williams-Beuren syndrome patients are hemizygous for the GTF2IRD2 gene.
    Title: Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
  4. There is high indentity between CTF2IRD2 and CTF2I, which suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms.
    Title: Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
  5. GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region.
    Title: GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

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

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

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 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)

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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.

Genomic

  1. NG_053172.2 RefSeqGene

    Range
    5000..60454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281447.3 → NP_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
    Consensus CDS
    CCDS64682.1
    UniProtKB/Swiss-Prot
    Q86UP8
    Related
    ENSP00000481017.1, ENST00000614386.1

  2. NM_001368300.2 → NP_001355229.1  general transcription factor II-I repeat domain-containing protein 2A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC211424, AC211433
    Consensus CDS
    CCDS94122.1
    UniProtKB/TrEMBL
    A0A494C0I1, A0A494C1N8
    Related
    ENSP00000498563.1, ENST00000651129.1

  3. NM_001388079.1 → NP_001375008.1  general transcription factor II-I repeat domain-containing protein 2A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A494C1N8
    Conserved Domains (3) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:552 → 635
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:434 → 496
    zf-C2H2_12; Zinc-finger C2H2-type

  4. NM_001388080.1 → NP_001375009.1  general transcription factor II-I repeat domain-containing protein 2A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A494C1N8
    Conserved Domains (3) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:525 → 608
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:407 → 469
    zf-C2H2_12; Zinc-finger C2H2-type

  5. NM_001388081.1 → NP_001375010.1  general transcription factor II-I repeat domain-containing protein 2A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A494C1N8
    Conserved Domains (3) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:521 → 604
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:403 → 465
    zf-C2H2_12; Zinc-finger C2H2-type

  6. NM_001388082.1 → NP_001375011.1  general transcription factor II-I repeat domain-containing protein 2A isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A494C1N8
    Conserved Domains (3) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:502 → 585
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:384 → 446
    zf-C2H2_12; Zinc-finger C2H2-type

  7. NM_001388083.1 → NP_001375012.1  general transcription factor II-I repeat domain-containing protein 2A isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    Conserved Domains (3) summary
    pfam02946
    Location:261 → 335
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:476 → 559
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:358 → 420
    zf-C2H2_12; Zinc-finger C2H2-type

  8. NM_001388084.1 → NP_001375013.1  general transcription factor II-I repeat domain-containing protein 2A isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    Conserved Domains (3) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:476 → 559
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:358 → 420
    zf-C2H2_12; Zinc-finger C2H2-type

  9. NM_001388085.1 → NP_001375014.1  general transcription factor II-I repeat domain-containing protein 2A isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    Conserved Domains (3) summary
    pfam02946
    Location:162 → 236
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:382 → 465
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:264 → 326
    zf-C2H2_12; Zinc-finger C2H2-type

  10. NM_001388086.1 → NP_001375015.1  general transcription factor II-I repeat domain-containing protein 2A isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    Conserved Domains (3) summary
    pfam02946
    Location:140 → 214
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:355 → 438
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:237 → 299
    zf-C2H2_12; Zinc-finger C2H2-type

  11. NM_001388087.1 → NP_001375016.1  general transcription factor II-I repeat domain-containing protein 2A isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A494C1N8
    Conserved Domains (3) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat
    pfam14291
    Location:530 → 613
    DUF4371; Domain of unknown function (DUF4371)
    pfam18658
    Location:412 → 474
    zf-C2H2_12; Zinc-finger C2H2-type

  12. NM_001388088.1 → NP_001375017.1  general transcription factor II-I repeat domain-containing protein 2A isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A087WW90
    Conserved Domains (1) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat

  13. NM_001388089.1 → NP_001375018.1  general transcription factor II-I repeat domain-containing protein 2A isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    UniProtKB/TrEMBL
    A0A087WW90
    Conserved Domains (1) summary
    pfam02946
    Location:107 → 181
    GTF2I; GTF2I-like repeat

  14. NM_001388460.1 → NP_001375389.1  general transcription factor II-I repeat domain-containing protein 2A isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    Conserved Domains (1) summary
    pfam02946
    Location:162 → 234
    GTF2I; GTF2I-like repeat

  15. NM_001388461.1 → NP_001375390.1  general transcription factor II-I repeat domain-containing protein 2A isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433
    Conserved Domains (1) summary
    pfam02946
    Location:136 → 208
    GTF2I; GTF2I-like repeat

  16. NM_173537.5 → NP_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
    UniProtKB/Swiss-Prot
    A0A0A0MSY2, A8K5W6, B3KUZ2, Q69G40, Q6EKI8, Q6EKI9, Q6NVW2, Q6P7N8, Q86UP8, Q86WX4, Q8ND85, Q8NDE5
    UniProtKB/TrEMBL
    A0A494C1N8
    Related
    ENSP00000406723.3, ENST00000451013.7

RNA

  1. NR_170881.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  2. NR_170882.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  3. NR_170883.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  4. NR_170884.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  5. NR_170885.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  6. NR_170886.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  7. NR_170887.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

  8. NR_170888.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC211424, AC211433

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
    74796151..74851605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75998467..76053913 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86UP8.3 GenPept UniProtKB/Swiss-Prot:Q86UP8

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