RIT2 (Ras like without CAAX 2)

2003-02-01  

Identity

HGNC
RIT2
LOCATION
18q12.3
LOCUSID
6014
ALIAS
RIBA,RIN,ROC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6014
MIM: 609592
HGNC: 10017
Ensembl: ENSG00000152214

Variants:

dbSNP: 6014
ClinVar: 6014
TCGA: ENSG00000152214
COSMIC: RIT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152214ENST00000326695Q99578
ENSG00000152214ENST00000589109Q99578
ENSG00000152214ENST00000590910K7EMR8
ENSG00000152214ENST00000650392A0A3B3ITB4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to p38 via RIT and RINREACTOMER-HSA-187706

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
224512042012Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.94
204891792010Strong synaptic transmission impact by copy number variations in schizophrenia.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219572392011The plasma membrane-associated GTPase Rin interacts with the dopamine transporter and is required for protein kinase C-regulated dopamine transporter trafficking.36
161575842005Rin GTPase couples nerve growth factor signaling to p38 and b-Raf/ERK pathways to promote neuronal differentiation.21
161223932005Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin.12
255340832015The RIT2 and STX1B polymorphisms are associated with Parkinson's disease.7
238050442013RIT2, a neuron-specific small guanosine triphosphatase, is expressed in retinal neuronal cells and its promoter is modulated by the POU4 transcription factors.6
281902412017Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder.6
263343952015Genetic association of RIT2 rs12456492 polymorphism and Parkinson's disease susceptibility in Asian populations: a meta-analysis.5

Citation

Dessen P

RIT2 (Ras like without CAAX 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42123/rit2-(ras-like-without-caax-2)