ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SGMS2

Full Name:

sphingomyelin synthase 2

Alias:

MGC26963|SMS2

Organism:

Homo sapiens (Human)

Chromosome:

4

Genetic Location:

4q25

Physical Location:

109033878-109051557 on NC_000004.10

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)

D4S423

2.61

0.0003

92691777

D4S427

3.53

0.00003

121646580

Region:		92691777-121646580
Phenotype:		ADSX (number of DSM-IV AD symptoms)
Name:		16534506
Method:		Linkage
Publication:		Prescott et al. Mol Psychiatry. (2006) Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4. PubMed
Summary:		We conducted a genome scan in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD). A 4 cM genome scan was conducted using 474 families of which most (96%) were comprised by affected sib pairs. Nonparametric and quantitative linkage analyses were conducted using DSM-IV alcohol dependence (AD) and number of DSM-IV AD symptoms (ADSX). Quantitative results indicate strong linkage for number of AD criteria to a broad region of chromosome 4, ranging from 4q22 to 4q32 (peak multipoint LOD=4.59, P=2.1 x 10(-6), at D4S1611). We got the gene list in the region between two markers D4S423 and D4S427 as markers between (included) these two markers have LOD scores >2 with P value <0.0003.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_152621.4	NP_689834.1	NC_000004.10 range: 109033878..109051557

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0000139	Golgi membrane	Cellular Component	IEA
GO:0005794	Golgi apparatus	Cellular Component	IDA (14685263)
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0005887	integral to plasma membrane	Cellular Component	IDA (14685263)
GO:0030173	integral to Golgi membrane	Cellular Component	IDA (14685263)
GO:0033188	sphingomyelin synthase activity	Molecular Function	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0016301	kinase activity	Molecular Function	IEA
GO:0047493	ceramide cholinephosphotransferase activity	Molecular Function	IDA (14685263)
GO:0006665	sphingolipid metabolic process	Biological Process	IEA
GO:0006629	lipid metabolic process	Biological Process	IEA
GO:0006686	sphingomyelin biosynthetic process	Biological Process	IDA (14685263)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000164023

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: