STRA6 - signaling receptor and transporter of retinol STRA6 Gene

Also Known as MCOPS9; MCOPCB8; PP14296

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64220

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	Verweise	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	Verweise	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	Verweise	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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13957	STRA6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21059	Stra6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27576	Stra6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	STRA6	NCBI