QuickView for GTF2H2;jsessionid=2564C291B3B6B851089968AE32FD024B (gene)

Gene Symbol:

GTF2H2 Homo sapiens

Full name:

general transcription factor IIH subunit 2

Synonyms:

BTF2, BTF2P44, T-BTF2P44, TFIIH, p44, general transcription factor IIH subunit 2, BTF2 p44, TFIIH basal transcription factor complex p44 subunit, basic transcription factor 2 44 kDa subunit, general transcription factor IIH polypeptide 2, general transcription factor IIH, polypeptide 2, 44kD subunit, general transcription factor IIH, polypeptide 2, 44kDa

Genomic Location:

Chr 5: 70366707-70399253

Description:

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is wit...

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This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

5q13.2

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