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Gene : GTF2IRD2 Homo sapiens

Name  ? GTF2I repeat domain containing 2 Cytological Location  7q11.23
Brief Description  GTF2I repeat domain containing 2
Description  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]
  • synonyms:
  • FLJ37938,
  • BC047706,
  • HGNC:30775,
  • uc032zsc.2,
  • OTTHUMG00000181527,
  • GTF2IRD2,
  • GTF2IRD2 alpha,
  • transcription factor GTF2IRD2,
  • GTF2IRD2A,
  • FP630,
  • GTF2IRD2A,
  • NM_173537
  • identifiers:
  • 84163,
  • ENSG00000196275,
  • GTF2IRD2

Genome feature

Region: gene ? Length: 55433  
Location: 7:74796144-74851576 reverse strand Cyto location: 7q11.23


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

14 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results