RAVER1 (ribonucleoprotein, PTB binding 1)

2014-11-01  

Identity

HGNC
RAVER1
LOCATION
19p13.2
LOCUSID
125950
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 125950
MIM: 609950
HGNC: 30296
Ensembl: ENSG00000161847

Variants:

dbSNP: 125950
ClinVar: 125950
TCGA: ENSG00000161847
COSMIC: RAVER1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161847ENST00000591969K7EKR9
ENSG00000161847ENST00000593136K7ERR4
ENSG00000161847ENST00000611074E9PAU2
ENSG00000161847ENST00000615032Q8IY67
ENSG00000161847ENST00000617231A0A087WZ13

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
195239012009Raver1 interactions with vinculin and RNA suggest a feed-forward pathway in directing mRNA to focal adhesions.22
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
233903092013RAVER1 is a coactivator of MDA5-mediated cellular antiviral response.13
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5
179318032007Functional characterization of the ribonucleoprotein, PTB-binding 1/Raver1 promoter region.2
227095802012The metavinculin tail domain directs constitutive interactions with raver1 and vinculin RNA.2

Citation

Dessen P

RAVER1 (ribonucleoprotein, PTB binding 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72501/raver1