ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

GTF2H2

Full Name:

general transcription factor IIH, polypeptide 2, 44kDa

Alias:

BTF2|BTF2P44|MGC102806|T-BTF2P44|TFIIH

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

5q12.2-q13.3

Physical Location:

70366706-70399252 on NC_000005.8, complement

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D5S647

66282906

Region:		66282906-76193808
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_001515.3	NP_001506.1	NC_000005.8 range: 70366706..70399252, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005675	holo TFIIH complex	Cellular Component	NR
GO:0005634	nucleus	Cellular Component	IEA
GO:0005654	nucleoplasm	Cellular Component	EXP (1939271\|2449431\|8946909\|9512541\|9582279\|9790902\|10214908\|11313499\|12393749\|12646563)
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0047485	protein N-terminus binding	Molecular Function	IPI (8652557)
GO:0003702	RNA polymerase II transcription factor activity	Molecular Function	IEA
GO:0003700	transcription factor activity	Molecular Function	NAS (8194529)
GO:0008135	translation factor activity, nucleic acid binding	Molecular Function	TAS (8194529)
GO:0009411	response to UV	Biological Process	TAS (8194529)
GO:0006368	RNA elongation from RNA polymerase II promoter	Biological Process	EXP (9405375)
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process	EXP (8946909)
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0006281	DNA repair	Biological Process	IEA
GO:0000718	nucleotide-excision repair, DNA damage removal	Biological Process	EXP (10583946)