ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

P4HB

Full Name:

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide

Alias:

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

17q25

Physical Location:

77394322-77411832 on NC_000017.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has Worm: 180724 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D17S928

77846128

Region:		75846128-78774742
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_000918.3	NP_000909.2	NC_000017.9 range: 77394322..77411832, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005793	ER-Golgi intermediate compartment	Cellular Component	IDA (15308636)
GO:0042470	melanosome	Cellular Component	IEA
GO:0005576	extracellular region	Cellular Component	NAS (14718574)
GO:0005783	endoplasmic reticulum	Cellular Component	IEA
GO:0005783	endoplasmic reticulum	Cellular Component	TAS (3034602)
GO:0005788	endoplasmic reticulum lumen	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0009986	cell surface	Cellular Component	IEP (12493773)
GO:0016853	isomerase activity	Molecular Function	IEA
GO:0003756	protein disulfide isomerase activity	Molecular Function	TAS (2846539)
GO:0005515	protein binding	Molecular Function	IPI (17055437\|17353931)
GO:0004656	procollagen-proline 4-dioxygenase activity	Molecular Function	IDA (7753822)
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	Biological Process	IDA (7753822)
GO:0045454	cell redox homeostasis	Biological Process	IEA