REEP6 (receptor accessory protein 6)

2010-05-01  

Identity

HGNC
REEP6
LOCATION
19p13.3
LOCUSID
92840
ALIAS
C19orf32,DP1L1,REEP6.1,REEP6.2,RP77,TB2L1,Yip2f

Other Information

Locus ID:

NCBI: 92840
MIM: 609346
HGNC: 30078
Ensembl: ENSG00000115255

Variants:

dbSNP: 92840
ClinVar: 92840
TCGA: ENSG00000115255
COSMIC: REEP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115255ENST00000233596Q96HR9
ENSG00000115255ENST00000233596A0A1L5BXV2
ENSG00000115255ENST00000395479Q96HR9
ENSG00000115255ENST00000395484A8MXN1

Expression (GTEx)

0
100
200
300
400
500
600
700
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
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
Olfactory Signaling PathwayREACTOMER-HSA-381753

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
278890582016Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.39
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
279666532016The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression.5
199244422010Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.1
199244422010Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.1
315382922020Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.0

Citation

Dessen P

REEP6 (receptor accessory protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51450/reep6