STRA6 - signaling receptor and transporter of retinol STRA6 Gene

Homo sapiens

Also known as MCOPS9; MCOPCB8; PP14296

Gene ID: 64220 | Gene type: protein coding

About STRA6

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:74,179,466-74,212,259 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 245 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in placenta (RPKM 6.8), endometrium (RPKM 4.0) and 6 other tissues.

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 the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

STRA6 Products(8)

mRNA	Protein	Name
NM_001142617.2	NP_001136089.1	receptor for retinol uptake STRA6 isoform a
NM_001142618.2	NP_001136090.1	receptor for retinol uptake STRA6 isoform a
NM_001142619.2	NP_001136091.1	receptor for retinol uptake STRA6 isoform b
NM_001142620.2	NP_001136092.1	receptor for retinol uptake STRA6 isoform c
NM_001199040.2	NP_001185969.1	receptor for retinol uptake STRA6 isoform d
NM_001199041.2	NP_001185970.1	receptor for retinol uptake STRA6 isoform e
NM_001199042.2	NP_001185971.1	receptor for retinol uptake STRA6 isoform f
NM_022369.4	NP_071764.3	receptor for retinol uptake STRA6 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables retinol transmembrane transporter activity	IDA IDA: Inferred from direct assay	21901792	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adrenal gland development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in alveolar primary septum development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in artery morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in blood vessel development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in camera-type eye development	IMP IMP: Inferred from mutant phenotype	21901792	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in developmental growth	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in diaphragm development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in digestive tract morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in ductus arteriosus closure	IMP IMP: Inferred from mutant phenotype	19500772	GOA
involved in ear development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in embryonic camera-type eye formation	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in embryonic digestive tract development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in eyelid development in camera-type eye	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in face morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in feeding behavior	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in female genitalia development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in head development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in head morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in lung alveolus development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in lung development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in lung vasculature development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in neuromuscular process	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in nose morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in paramesonephric duct development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in positive regulation of behavior	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in pulmonary artery morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in pulmonary valve morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in retinol transport	IDA IDA: Inferred from direct assay	21901792	GOA
involved in smooth muscle tissue development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in uterus morphogenesis	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in ventricular septum development	IMP IMP: Inferred from mutant phenotype	17273977	GOA
involved in vocal learning	IMP IMP: Inferred from mutant phenotype	17273977	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	21901792	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STRA6 Protein Structure

RBP_receptor

0
200
400
600
667 a.a.

Protein Preferred Names

Protein Names

receptor for retinol uptake STRA6

RBP receptor

Related Diseases

Diseases

Alias

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome	Spear Syndrome
Anophthalmia/Microphthalmia And Pulmonary Hypoplasia	Microphthalmia, Isolated, With Coloboma 8
MCOPS9	Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect	Pdac
Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect	Pmd
Syndromic Microphthalmia 9	Anophthalmia-Pulmonary Hypoplasia Syndrome
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations	Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect
Microphthalmia Syndromic 9	Matthew Wood Syndrome
Pdac Syndrome	Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome
Microphthalmia, Isolated, With Coloboma, 8	MCOPCB8
Isolated Colobomatous Microphthalmia 8	Microphthalmia, Syndromic, 9
Anophthalmia With Pulmonary Hypoplasia	Microphthalmia Syndromic, Type 9
Anophthalmia And Pulmonary Hypoplasia

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Syndromic Microphthalmia

Microphthalmia, Syndromic

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Diaphragmatic Eventration

Dextrocardia

Heart Predominantly In Right Hemithorax	Heart In Right Chest
Right-Sided Heart	Congenital Dextrocardia Of Heart
Transposition Of Heart

Diaphragm Disease

Abnormality Of The Diaphragm	Disease Of Diaphragm
Diaphragmatic Disorder	Disorder Of Diaphragm

Microphthalmia, Syndromic 12

Microphthalmia With Or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, And/Or Cardiac Defects	MCOPS12
Syndromic Microphthalmia 12	Syndromic Microphthalmia-12
Microphthalmia, Syndromic, 12	Microphthalmia, Syndromic, Type 12

Microphthalmia, Isolated 3

Isolated Microphthalmia 3	MCOP3
Microphthalmia, Isolated, 3	Isolated Clinical Anophthalmia
Microphthalmia, Isolated, Type 3

Microphthalmia, Syndromic 8

MCOPS8	Mmep Syndrome
Mmep	Syndromic Microphthalmia Type 8
Viljoen-Smart Syndrome	Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism
Syndromic Microphthalmia 8	Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome
Microphthalmia Syndromic 8	Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism
Viljoen Smart Syndrome	Microphthalmia, Syndromic, 8
Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism

Hypervitaminosis A

Hypervitaminosis A, Susceptibility To

Hyperalimentation Of Vitamin A

Isolated Microphthalmia

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome	Dbs/Foar Syndrome
Foar Syndrome	Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
Facio-Oculo-Acoustico-Renal Syndrome	Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome	Holmes-Schepens Syndrome
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness	DBS
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria	Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome	Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
Donnai Barrow Syndrome

Microphthalmia, Isolated 2

Isolated Microphthalmia 2	MCOP2
Anophthalmia, Clinical, Isolated	Microphthalmia, Isolated, 2
Isolated Clinical Anophthalmia	Microphthalmia, Isolated, Type 2

Microphthalmia, Syndromic 1

MCOPS1	Lenz Microphthalmia Syndrome
Lenz Dysplasia	Mcops4
Syndromic Microphthalmia 1	Lenz Microphthalmia
Maa	Microphthalmia Or Anophthalmos With Associated Anomalies
Syndromic Microphthalmia Type 4	Microphthalmia, Syndromic 4
Microphthalmia, Syndromic 4, Formerly	Mcops4, Formerly
Anop1, Formerly	Maa, Formerly
Lenz Type Microphthalmia	Syndromic Microphthalmia 4
Microphthalmia Lenz Type	Microphthalmia Syndromic 1
Syndromic Microphthalmia Type 1	Microphthalmia Syndromic 4
Microphthalmia With Ankyloblepharon And Intellectual Disability	Microphthalmia, Lenz Type
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Syndromic, 1
Anop1	Microphthalmia, Syndromic, Type 1

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Microphthalmia, Syndromic 3

MCOPS3	Aeg Syndrome
Microphthalmia And Esophageal Atresia Syndrome	Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia-Esophageal-Genital Syndrome	Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
Syndromic Microphthalmia 3	Sox2 Anophthalmia Syndrome
Anophthalmia Clinical With Associated Anomalies	Anophthalmia Esophageal Genital Syndrome
Anophthalmia Microphthalmia Esophageal Atresia	Syndromic Microphthalmia Type 3
Sox2-Related Eye Disorders	Anophthalmia, Clinical, With Associated Anomalies
Syndromic Microphthalmia, Type 3	Microphthalmia, Syndromic, 3
Anophthalmia/Microphthalmia-Esophageal Atresia	Microphthalmia Syndromic, Type 3

Macs Syndrome

Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis	Mycobacterium Avium Complex Disease
Rin2 Syndrome	Mycobacterium Avium-Intracellulare Infection
Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis	Mycobacterium Avium Complex
Mycobacterium Avium Infection	Infection Due To Mycobacterium Intracellulare
Mac Disease	Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome
Rin2 Deficiency	Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome
MACS	Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13957	STRA6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STRA6	VGNC	VGNC:78248
Felis catus	STRA6	VGNC	VGNC:65799
Mus musculus	STRA6	MGD	MGI:107742
Canis familiaris	STRA6	VGNC	VGNC:46937
Rattus norvegicus	STRA6	RGD	RGD:1307551
Bos taurus	STRA6	VGNC	VGNC:35417

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