ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SMAD9

Full Name:

SMAD family member 9

Alias:

MADH6|MADH9|SMAD8A|SMAD8B

Organism:

Homo sapiens (Human)

Chromosome:

13

Genetic Location:

13q12-q14

Physical Location:

36320320-36351965 on NC_000013.9, 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)

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_005905.4	NP_005896.1	NC_000013.9 range: 36320320..36351965, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005829	cytosol	Cellular Component	EXP (9436979\|17356069)
GO:0005622	intracellular	Cellular Component	TAS (9256479)
GO:0005634	nucleus	Cellular Component	IEA
GO:0005654	nucleoplasm	Cellular Component	EXP (11121043)
GO:0005667	transcription factor complex	Cellular Component	IEA
GO:0003700	transcription factor activity	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IEA
GO:0006350	transcription	Biological Process	IEA
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0007179	transforming growth factor beta receptor signaling pathway	Biological Process	IEA
GO:0030509	BMP signaling pathway	Biological Process	EXP (15621726)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000120693

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: