ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SCNN1A

Full Name:

sodium channel, nonvoltage-gated 1 alpha

Alias:

ENaCa|ENaCalpha|FLJ21883|SCNEA|SCNN1

Organism:

Homo sapiens (Human)

Chromosome:

12

Genetic Location:

12p13

Physical Location:

6326273-6354975 on NC_000012.10, 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)

D12S99

5434815

Region:		3434815-7434815
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_001038.4	NP_001029.1	NC_000012.10 range: 6326273..6354975, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005624	membrane fraction	Cellular Component	NR
GO:0005887	integral to plasma membrane	Cellular Component	NR
GO:0016324	apical plasma membrane	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0005216	ion channel activity	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (11244092)
GO:0031402	sodium ion binding	Molecular Function	IEA
GO:0015280	amiloride-sensitive sodium channel activity	Molecular Function	IEA
GO:0050896	response to stimulus	Biological Process	IEA
GO:0007588	excretion	Biological Process	TAS (8589714)
GO:0006814	sodium ion transport	Biological Process	TAS (8589714)
GO:0006811	ion transport	Biological Process	IEA
GO:0050909	sensory perception of taste	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000111319

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: