RIMS3 (regulating synaptic membrane exocytosis 3)

2014-08-01  

Identity

HGNC
RIMS3
LOCATION
1p34.2
LOCUSID
9783
ALIAS
NIM3,RIM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9783
MIM: 611600
HGNC: 21292
Ensembl: ENSG00000117016

Variants:

dbSNP: 9783
ClinVar: 9783
TCGA: ENSG00000117016
COSMIC: RIMS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117016ENST00000372683Q9UJD0
ENSG00000117016ENST00000372684Q9UJD0

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
281186662017Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.16
281186662017Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.16
195460992010A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.24
195460992010A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.24
184900302009Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.14
184900302009Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.14

Citation

Dessen P

RIMS3 (regulating synaptic membrane exocytosis 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54583