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
339171982021Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.7
339171982021Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.7
315382922020Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.6
315382922020Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.6
278890582016Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.71
279666532016The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression.14
278890582016Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.71
279666532016The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression.14
199244422010Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.3
199244422010Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.3
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199244422010Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.3
199244422010Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.3
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

REEP6 (receptor accessory protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51450/reep6-(receptor-accessory-protein-6)