ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

KL

Full Name:

klotho

Organism:

Homo sapiens (Human)

Chromosome:

13

Genetic Location:

13q12

Physical Location:

32488570-32538278 on NC_000013.9

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

KL

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

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_004795.2	NP_004786.2	NC_000013.9 range: 32488570..32538278

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005886	plasma membrane	Cellular Component	EXP (17086194)
GO:0005887	integral to plasma membrane	Cellular Component	TAS (9464267)
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0005576	extracellular region	Cellular Component	EXP (17086194)
GO:0005576	extracellular region	Cellular Component	IEA
GO:0005615	extracellular space	Cellular Component	TAS (9464267)
GO:0005624	membrane fraction	Cellular Component	TAS (9464267)
GO:0005625	soluble fraction	Cellular Component	TAS (9464267)
GO:0008422	beta-glucosidase activity	Molecular Function	TAS (9363890)
GO:0004566	beta-glucuronidase activity	Molecular Function	IEA
GO:0005499	vitamin D binding	Molecular Function	IEA
GO:0005179	hormone activity	Molecular Function	IEA
GO:0004871	signal transducer activity	Molecular Function	TAS (9363890)
GO:0043169	cation binding	Molecular Function	IEA
GO:0005975	carbohydrate metabolic process	Biological Process	IEA
GO:0007568	aging	Biological Process	IMP (11792841)
GO:0008152	metabolic process	Biological Process	IEA
GO:0008543	fibroblast growth factor receptor signaling pathway	Biological Process	EXP (17086194)
GO:0030501	positive regulation of bone mineralization	Biological Process	IMP (12110410)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000133116

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: