Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64220
Gene name	Signaling receptor and transporter of retinol STRA6
Gene symbol	STRA6
Synonyms (NCBI Gene)	MCOPCB8MCOPS9PP14296SLC69A1
Chromosome	15
Chromosome location	15q24.1
Summary	The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203958	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs118203959	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs118203960	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs118203961	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs118203962	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs139775570	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs144691445	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs150814749	C>T	Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs151341424	CC>TT	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs267607096	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs372931895	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397514638	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs397514639	C>A,T	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs397518484	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs606231125	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs606231126	AGT>GG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs606231127	->C	Pathogenic, likely-pathogenic	3 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs794727153	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869025269	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064793275	->AACACTCTGCCCTCTGCCA	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1173479131	CA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555457882	TT>-	Pathogenic	Intron variant
rs1555457919	->G,GG	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1567177198	->A	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments
MIRT1399179	hsa-miR-1254	CLIP-seq
MIRT1399180	hsa-miR-146b-3p	CLIP-seq
MIRT1399181	hsa-miR-3116	CLIP-seq
MIRT1399182	hsa-miR-3173-5p	CLIP-seq
MIRT1399183	hsa-miR-4474-3p	CLIP-seq
MIRT1399184	hsa-miR-4764-5p	CLIP-seq
MIRT1399185	hsa-miR-604	CLIP-seq
MIRT1399186	hsa-miR-647	CLIP-seq
MIRT1399187	hsa-miR-874	CLIP-seq
MIRT1399188	hsa-miR-1208	CLIP-seq
MIRT1399189	hsa-miR-1256	CLIP-seq
MIRT1399190	hsa-miR-1275	CLIP-seq
MIRT1399191	hsa-miR-2355-5p	CLIP-seq
MIRT1399192	hsa-miR-3679-3p	CLIP-seq
MIRT1399193	hsa-miR-4447	CLIP-seq
MIRT1399194	hsa-miR-4472	CLIP-seq
MIRT1399195	hsa-miR-4488	CLIP-seq
MIRT1399196	hsa-miR-452	CLIP-seq
MIRT1399197	hsa-miR-4651	CLIP-seq
MIRT1399198	hsa-miR-4665-5p	CLIP-seq
MIRT1399199	hsa-miR-4676-3p	CLIP-seq
MIRT1399200	hsa-miR-4697-5p	CLIP-seq
MIRT1399201	hsa-miR-608	CLIP-seq
MIRT2341808	hsa-miR-1200	CLIP-seq
MIRT2341809	hsa-miR-1287	CLIP-seq
MIRT2341810	hsa-miR-4324	CLIP-seq
MIRT2341811	hsa-miR-544b	CLIP-seq
MIRT2341812	hsa-miR-561	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IMP	17273977
GO:0001822	Process	Kidney development	IMP	17273977
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	17273977
GO:0003281	Process	Ventricular septum development	IMP	17273977
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21901792
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007507	Process	Heart development	IMP	17273977
GO:0007612	Process	Learning	IMP	17273977
GO:0007631	Process	Feeding behavior	IMP	17273977
GO:0016020	Component	Membrane	IEA
GO:0016918	Function	Retinal binding	IEA
GO:0019841	Function	Retinol binding	IEA
GO:0030324	Process	Lung development	IMP	17273977
GO:0030325	Process	Adrenal gland development	IMP	17273977
GO:0030540	Process	Female genitalia development	IMP	17273977
GO:0032991	Component	Protein-containing complex	IDA
GO:0034632	Function	Retinol transmembrane transporter activity	IDA	21901792
GO:0034632	Function	Retinol transmembrane transporter activity	IEA
GO:0034633	Process	Retinol transport	IDA	21901792
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042297	Process	Vocal learning	IMP	17273977
GO:0043010	Process	Camera-type eye development	IMP	21901792
GO:0043583	Process	Ear development	IMP	17273977
GO:0043585	Process	Nose morphogenesis	IMP	17273977
GO:0048286	Process	Lung alveolus development	IMP	17273977
GO:0048520	Process	Positive regulation of behavior	IMP	17273977
GO:0048546	Process	Digestive tract morphogenesis	IMP	17273977
GO:0048566	Process	Embryonic digestive tract development	IMP	17273977
GO:0048589	Process	Developmental growth	IMP	17273977
GO:0048745	Process	Smooth muscle tissue development	IMP	17273977
GO:0048844	Process	Artery morphogenesis	IMP	17273977
GO:0050890	Process	Cognition	IMP	17273977
GO:0050905	Process	Neuromuscular process	IMP	17273977
GO:0060322	Process	Head development	IMP	17273977
GO:0060323	Process	Head morphogenesis	IMP	17273977
GO:0060325	Process	Face morphogenesis	IMP	17273977
GO:0060426	Process	Lung vasculature development	IMP	17273977
GO:0060539	Process	Diaphragm development	IMP	17273977
GO:0060900	Process	Embryonic camera-type eye formation	IMP	17273977
GO:0061029	Process	Eyelid development in camera-type eye	IMP	17273977
GO:0061038	Process	Uterus morphogenesis	IMP	17273977
GO:0061143	Process	Alveolar primary septum development	IMP	17273977
GO:0061156	Process	Pulmonary artery morphogenesis	IMP	17273977
GO:0061205	Process	Paramesonephric duct development	IMP	17273977
GO:0071939	Process	Vitamin A import into cell	IBA
GO:0097070	Process	Ductus arteriosus closure	IMP	19500772

MIM	HGNC	e!Ensembl
610745	30650	ENSG00000137868

Q9BX79

Protein name

Receptor for retinol uptake STRA6 (Retinol-binding protein receptor STRA6) (Stimulated by retinoic acid gene 6 protein homolog)

Protein function

Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14752	RBP_receptor	41 → 657		Family

Tissue specificity

TISSUE SPECIFICITY: Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris. {ECO:0000269|PubMed:17273977}.

Sequence

MSSQPAGNQTSPGATEDYSYGSWYIDEPQGGEELQPEGEVPSCHTSIPPGLYHACLASLS
ILVLLLLAMLVRRRQLWPDCVRGRPGLPSPVDFLAGDRPRAVPAAVFMVLLSSLCLLLPD
EDALPFLTLASAPSQDGKTEAPRGAWKILGLFYYAALYYPLAACATAGHTAAHLLGSTLS
WAHLGVQVWQRAECPQVPKIYKYYSLLASLPLLLGLGFLSLWYPVQLVRSFSRRTGAGSK
GLQSSYSEEYLRNLLCRKKLGSSYHTSKHGFLSWARVCLRHCIYTPQPGFHLPLKLVLSA
TLTGTAIYQVALLLLVGVVPTIQKVRAGVTTDVSYLLAGFGIVLSEDKQEVVELVKHHLW
ALEVCYISALVLSCLLTFLVLMRSLVTHRTNLRALHRGAALDLSPLHRSPHPSRQAIFCW
MSFSAYQTAFICLGLLVQQIIFFLGTTALAFLVLMPVLHGRNLLLFRSLESSWPFWLTLA
LAVILQNMAAHWVFLETHDGHPQLTNRRVLYAATFLLFPLNVLVGAMVATWRVLLSALYN
AIHLGQMDLSLLPPRAATLDPGYYTYRNFLKIEVSQSHPAMTAFCSLLLQAQSLLPRTMA
APQDSLRPGEEDEGMQLLQTKDSMAKGARPGASRGRARWGLAYTLLHNPTLQVFRKTALL
GANGAQP

Sequence length

667

Interactions

View interactions

	Reactome
			Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)

216

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anophthalmia-microphthalmia syndrome	Pathogenic	rs144691445, rs372931895, rs869025269	RCV000207387 RCV000207384 RCV000207353
Malignant tumor of esophagus	Likely pathogenic	rs770136705	RCV005868364
Matthew-Wood syndrome	Pathogenic; Likely pathogenic	rs2074102664, rs2142004122, rs570214336, rs1595838712, rs118203958, rs606231125, rs118203960, rs118203961, rs606231126, rs606231127, rs1555457919, rs267607096, rs1555457882, rs151341424, rs397514638 View all (10 more)	RCV001332463 RCV001374460 RCV001814902 RCV001884155 RCV000001192 RCV000001193 RCV000001195 RCV000001196 RCV000001198 RCV000001199 RCV000001200 RCV000001201 RCV000515456 RCV000032958 RCV000033165 RCV000033166 RCV000694327 RCV001169873 RCV001205377 RCV001222856 RCV000074414 RCV001229031 RCV001265556 RCV001265555 RCV002760512
Microphthalmia	Likely pathogenic	rs750864641	RCV002291349
Microphthalmia, isolated, with coloboma 8	Pathogenic	rs151341424	RCV000032957
STRA6-related disorder	Likely pathogenic; Pathogenic	rs118203960, rs397514639	RCV005867718 RCV000509414

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs351222, rs8037290, rs180889966	RCV005915465 RCV005917308 RCV005912103
Cholangiocarcinoma	Benign	rs971755, rs35255788	RCV005921849 RCV005923803
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs971755, rs201730717	RCV005921847 RCV005893410
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs8037290, rs201730717	RCV005917310 RCV005893411
Malignant lymphoma, large B-cell, diffuse	Benign	rs971755, rs2277608	RCV005921846 RCV005894169
Ovarian serous cystadenocarcinoma	Benign	rs8037290	RCV005917309
Syndromic Microphthalmia, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs886051471, rs377631858, rs533909647, rs773460079, rs886051477, rs886051478, rs62005710	RCV000368439 RCV000368037 RCV000406860 RCV000364576 RCV000272414 RCV000301595 RCV000269792
Uterine carcinosarcoma	Benign	rs351222, rs971755, rs35255788, rs2277608	RCV005915466 RCV005921848 RCV005923802 RCV005894170
Uveal melanoma	Benign	rs2277608	RCV005894168

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alveolar capillary dysplasia	Associate	17273977
Anophthalmia with pulmonary hypoplasia	Associate	17503335, 24075189, 25816144, 32597569
Anophthalmos	Associate	17273977, 19112531, 24431331, 30880327, 32597569
Aortic Arch Interruption Facial Palsy and Retinal Coloboma	Associate	32597569
Capillary Malformation Arteriovenous Malformation	Associate	17273977
Carcinogenesis	Associate	36843593
Carcinoma Hepatocellular	Associate	31828095
Carotid Body Tumor	Associate	30967136
Colonic Neoplasms	Associate	25237067
Conotruncal cardiac defects	Associate	36789878
Diabetes Gestational	Associate	30882700
Diabetes Mellitus Type 2	Associate	20625434, 27446956, 30882700
Diaphragmatic Eventration	Associate	17503335
Exfoliation Syndrome	Associate	30986821
Familial duodenal atresia	Associate	17503335
Fetal Growth Retardation	Associate	17503335
Heart Defects Congenital	Associate	17273977
Heart Diseases	Associate	32597569
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	25237067
Hernia Diaphragmatic	Associate	17273977
Hernias Diaphragmatic Congenital	Associate	32597569
Intellectual Disability	Associate	17273977
Isolated Noncompaction of the Ventricular Myocardium	Associate	32597569
Lung agenesis	Associate	32597569
Lung Diseases	Associate	17273977
Microphthalmia Isolated 1	Associate	32597569
Microphthalmos	Associate	17503335, 19112531, 30880327, 32962661
Neoplasms	Associate	25237067, 36843593
Pancreatitis	Associate	17503335
Retinal Aplasia	Associate	32597569
Stomach Neoplasms	Stimulate	32859629
Stomach Neoplasms	Associate	35874675
Thyroid Cancer Papillary	Associate	36843593

STRA6 (signaling receptor and transporter of retinol STRA6)