STRA6 (signaling receptor and transporter of retinol STRA6)

2015-02-01  

Identity

HGNC
STRA6
LOCATION
15q24.1
LOCUSID
64220
ALIAS
MCOPCB8,MCOPS9,PP14296
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64220
MIM: 610745
HGNC: 30650
Ensembl: ENSG00000137868

Variants:

dbSNP: 64220
ClinVar: 64220
TCGA: ENSG00000137868
COSMIC: STRA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137868ENST00000323940Q9BX79
ENSG00000137868ENST00000395105Q9BX79
ENSG00000137868ENST00000416286J3KQI6
ENSG00000137868ENST00000423167Q9BX79
ENSG00000137868ENST00000432245Q9BX79
ENSG00000137868ENST00000449139Q9BX79
ENSG00000137868ENST00000535552Q9BX79
ENSG00000137868ENST00000563965Q9BX79
ENSG00000137868ENST00000569936I3NI08
ENSG00000137868ENST00000571341I3L0M6
ENSG00000137868ENST00000572785I3L2B6
ENSG00000137868ENST00000573391I3L1C7
ENSG00000137868ENST00000574278Q9BX79
ENSG00000137868ENST00000616000Q9BX79

Expression (GTEx)

0
5
10
15
20
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
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Diseases associated with visual transductionREACTOMER-HSA-2474795
Retinoid cycle disease eventsREACTOMER-HSA-2453864
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

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
172739772007Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.131
183160312008RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome.84
175033352007Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.77
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
226654962012Cross talk between signaling and vitamin A transport by the retinol-binding protein receptor STRA6.43
193096932009Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.42
183879512008An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism.32
219017922011First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.29
228264352012Transthyretin blocks retinol uptake and cell signaling by the holo-retinol-binding protein receptor STRA6.26
191125312008Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.18

Citation

Dessen P

STRA6 (signaling receptor and transporter of retinol STRA6)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55034/stra6