GTF2H2

Name

general transcription factor IIH subunit 2

Type

protein-coding

Position

71,034,962–71,067,723 (−)

Aliases

BTF2, BTF2 p44, BTF2P44, T-BTF2P44, TFIIH, p44

Ensembl

ENSG00000145736

RefSeq RNA

NM_001364567.2, NM_001364568.3, NM_001364569.2, NM_001364570.2, NM_001364571.2

RefSeq protein

NP_001351496.1, NP_001351497.1, NP_001351498.1, NP_001351499.1, NP_001351500.1

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. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

general transcription factor IIH subunit 2

Symbol

GTF2H2

Biotype

Protein coding

Organism

Homo sapiens

Location

5:71,034,962-71,067,723

Strand

Reverse (−)

Assembly

GRCh38