RIMS2 (regulating synaptic membrane exocytosis 2)

2007-04-01  

Identity

HGNC
RIMS2
LOCATION
8q22.3
LOCUSID
9699
ALIAS
CRSDS,OBOE,RAB3IP3,RIM2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9699
MIM: 606630
HGNC: 17283
Ensembl: ENSG00000176406

Variants:

dbSNP: 9699
ClinVar: 9699
TCGA: ENSG00000176406
COSMIC: RIMS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176406ENST00000262231Q9UQ26
ENSG00000176406ENST00000339750Q9UQ26
ENSG00000176406ENST00000408894F8W6W8
ENSG00000176406ENST00000436393D6RA03
ENSG00000176406ENST00000504942Q9UQ26
ENSG00000176406ENST00000507677A0A0J9YXG4
ENSG00000176406ENST00000507740Q9UQ26
ENSG00000176406ENST00000515551D6RDY0
ENSG00000176406ENST00000523362E5RI36
ENSG00000176406ENST00000632716A0A0J9YWD4
ENSG00000176406ENST00000666250A0A590UJL1
ENSG00000176406ENST00000668113A0A590UK62

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
Insulin secretionKEGGhsa04911

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
324703752020Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.11
324703752020Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.11
283775032017C-terminal splice variants of P/Q-type Ca(2+) channel Ca(V)2.1 α(1) subunits are differentially regulated by Rab3-interacting molecule proteins.11
283775032017C-terminal splice variants of P/Q-type Ca(2+) channel Ca(V)2.1 α(1) subunits are differentially regulated by Rab3-interacting molecule proteins.11
222488762012RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.19
222488762012RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.19
203633272010Modulation of Cav1.3 Ca2+ channel gating by Rab3 interacting molecule.31
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205205872010Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.35
203633272010Modulation of Cav1.3 Ca2+ channel gating by Rab3 interacting molecule.31
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205205872010Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.35
184900302009Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.14
191998332009Flavivirus NS5 associates with host-cell proteins zonula occludens-1 (ZO-1) and regulating synaptic membrane exocytosis-2 (RIMS2) via an internal PDZ binding mechanism.17
184900302009Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.14

Citation

Dessen P

RIMS2 (regulating synaptic membrane exocytosis 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47396/tumors-explorer/favicon/js/lib/zoomerang.js