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Gene : GTF2IRD2B Homo sapiens

Name  ? GTF2I repeat domain containing 2B Cytological Location  7q11.23
Brief Description  GTF2I repeat domain containing 2B
Description  This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000181534,
  • GTF2IRD2B,
  • GTF2IRD2A,
  • uc003ubt.4,
  • GTF2IRD2,
  • HGNC:33125,
  • AY312850,
  • NM_001003795
  • identifiers:
  • 389524,
  • ENSG00000174428,
  • GTF2IRD2B

Genome feature

Region: gene ? Length: 57262  
Location: 7:75092556-75149817 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

406 SN Ps

5 Cross References

13 Data Sets

1 Homologues

0 Located Features

97 Rna Seq Results