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Gene : GTF2I Homo sapiens

Name  ? general transcription factor IIi Cytological Location  7q11.23
Brief Description  general transcription factor IIi
description  This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
  • synonyms:
  • OTTHUMG00000156237,
  • GTFII-I,
  • BTKAP1,
  • TFII-I,
  • WBS,
  • DIWS,
  • TFII-I,
  • SPIN,
  • uc003uau.5,
  • NM_032999,
  • GTF2I,
  • IB291,
  • BAP135,
  • WBSCR6,
  • SPIN,
  • general transcription factor II, i,
  • DIWS,
  • U77948,
  • IB291,
  • BAP-135,
  • HGNC:4659,
  • WBSCR6,
  • BTKAP1
  • identifiers:
  • 2969,
  • ENSG00000263001,
  • GTF2I

Genome feature

Region: gene ? Length: 103028  
Location: 7:74657665-74760692 Cyto location: 7q11.23


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Function

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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 SN Ps

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

37 Rna Seq Results