ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

RFC3

Full Name:

replication factor C (activator 1) 3, 38kDa

Alias:

MGC5276|RFC38

Organism:

Homo sapiens (Human)

Chromosome:

13

Genetic Location:

13q12.3-q13

Physical Location:

33290205-33438694 on NC_000013.9

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)

D13S171

32151912

Region:		32151912-40979230
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_002915.3	NP_002906.1	NC_000013.9 range: 33290205..33438694
NM_181558.2	NP_853536.2	NC_000013.9 range: 33290205..33438694

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005654	nucleoplasm	Cellular Component	EXP (9822671)
GO:0005663	DNA replication factor C complex	Cellular Component	TAS (7774928)
GO:0005663	DNA replication factor C complex	Cellular Component	IDA (9488738)
GO:0005634	nucleus	Cellular Component	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (9488738)
GO:0003689	DNA clamp loader activity	Molecular Function	TAS (9488738)
GO:0016887	ATPase activity	Molecular Function	IDA (9488738)
GO:0000731	DNA synthesis during DNA repair	Biological Process	TAS (9488738)
GO:0006271	DNA strand elongation during DNA replication	Biological Process	TAS (7774928)
GO:0006297	nucleotide-excision repair, DNA gap filling	Biological Process	EXP (9111189)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000133119

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: