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Gene : GTF2IRD1 Homo sapiens

Name  ? GTF2I repeat domain containing 1 Cytological Location  7q11.23
Brief Description  GTF2I repeat domain containing 1
Description  The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
  • synonyms:
  • WBS,
  • OTTHUMG00000023782,
  • GTF2IRD1,
  • MUSTRD1,
  • binding factor for early enhancer,
  • NM_016328,
  • WBSCR11,
  • Cream1,
  • RBAP2,
  • BEN,
  • GTF3,
  • RBAP2,
  • GTF2I repeat domain-containing 1,
  • BEN,
  • MusTRD1,
  • WBSCR11,
  • GTF3,
  • HGNC:4661,
  • WBSCR12,
  • hMusTRD1alpha1,
  • uc032zrx.2,
  • AF151354,
  • WBSCR12,
  • CREAM1
  • identifiers:
  • 9569,
  • ENSG00000006704,
  • GTF2IRD1

Genome feature

Region: gene ? Length: 149165  
Location: 7:74453906-74603070 Cyto location: 7q11.23


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

203 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results