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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

STRA6 Gene

protein-coding GIFtS: 51
GCID: GC15M074471

stimulated by retinoic acid 6

(Previous names: stimulated by retinoic acid gene 6 homolog (mouse), stimulated...)

Explore 18 diseases affiliated with
STRA6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Stimulated By Retinoic Acid 6¹ ²		MCOPCB8²
MCOPS9² ⁵		Stimulated By Retinoic Acid 6 Homolog²
FLJ12541¹		Stimulated By Retinoic Acid Gene 6 Homolog²
Stimulated By Retinoic Acid 6 Homolog (Mouse)¹		Stimulated By Retinoic Acid Gene 6 Protein Homolog²
Stimulated By Retinoic Acid Gene 6 Homolog (Mouse)¹

External Ids:	HGNC: 30650¹	Entrez Gene: 64220²	Ensembl: ENSG00000137868⁷	OMIM: 610745⁵	UniProtKB: Q9BX79³

Export aliases for STRA6 gene to outside databases

Previous GC identifers: GC15M072260 GC15M051265

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for STRA6:

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)

UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79

Function: May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4).

Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This

mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from

the retinol-RBP complex (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the STRA6 gene promoter:
IRF-2 CP2 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) HNF-4alpha2 POU3F2 HNF-4alpha1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: STRA6 promoter sequence

Search SABiosciences Chromatin IP Primers for STRA6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STRA6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24.1 Ensembl cytogenetic band: 15q24.1 HGNC cytogenetic band: 15q24.1

STRA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STRA6 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M074471: view genomic region (about GC identifiers)

Start:	74,471,807 bp from pter	End:	74,504,608 bp from pter
Size:	32,802 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79 (See protein sequence)

Recommended Name: Stimulated by retinoic acid gene 6 protein homolog

Size: 667 amino acids; 73503 Da

Subcellular location: Cell membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=BAB14122.1; Type=Erroneous initiation; Sequence=CAD97655.1; Type=Erroneous initiation;

Secondary accessions: A8K7F1 D3DW54 Q6PJF8 Q71RB9 Q7L9G1 Q7Z3U9 Q8TB21 Q9BX78 Q9H9U8

Alternative splicing: 4 isoforms: Q9BX79-1 Q9BX79-2 Q9BX79-3 Q9BX79-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for STRA6: NX_Q9BX79

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BX79

STRA6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (8 alternative transcripts):

NP_001136089.1 NP_001136090.1 NP_001136091.1 NP_001136092.1 NP_001185969.1 NP_001185970.1 NP_001185971.1 NP_071764.3

ENSEMBL proteins:

ENSP00000378537 ENSP00000413012 ENSP00000326085 ENSP00000410221 ENSP00000400403

ENSP00000440238 ENSP00000456609 ENSP00000458827 ENSP00000459546 ENSP00000461799

ENSP00000407176 ENSP00000458204 ENSP00000458734

Reactome Protein details: Q9BX79
Human Recombinant Protein Products for STRA6:

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	Novus Biologicals STRA6 Protein Novus Biologicals STRA6 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for STRA6

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0043234	protein complex	IDA	--

STRA6 for ontologies About GeneDecksing

STRA6 Antibody Products:

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	ThermoFisher Antibody for STRA6

Assay Products for STRA6:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for STRA6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

STRA6 for domains About GeneDecksing

1 InterPro domain/family:

IPR026612 STRA6

Graphical View of Domain Structure for InterPro Entry Q9BX79

ProtoNet protein and cluster: Q9BX79

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: STRA6_HUMAN, Q9BX79

Function: May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4).

Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This

mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from

the retinol-RBP complex (By similarity)

Induction: Up-regulated in the colorectal cancer cell line WiDr by the administration of retinoic acid and in tumors

with frequent defects in Wnt-1 signaling

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0051183	vitamin transporter activity	IEA	--

STRA6 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for STRA6:

Decreased viability with pacli

Large cells

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Stra6):

growth/size

STRA6 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for STRA6

miRNA Products:		OriGene 3'-UTR Clone (see all 5): STRA6 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STRA6
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate STRA6:
		hsa-miR-1287 hsa-miR-1231 hsa-miR-544b hsa-miR-149 hsa-miR-130b* hsa-miR-323b-5p
		SwitchGear 3'UTR luciferase reporter plasmid: STRA6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STRA6 (see all 7) OriGene shRNA RFP: STRA6 OriGene siRNA: STRA6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STRA6
		Sirion Biotech Custom design and validation of potent shRNA sequences against STRA6

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for STRA6
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STRA6 (see all 13) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STRA6 (see all 6) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 8): STRA6 (NM_022369)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for STRA6
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for STRA6
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		Sirion Biotech Customized stable knockdown cell line services for STRA6 Sirion Biotech Customized inducible knockdown cell line services for STRA6 Sirion Biotech Customized stable overexpressing cell line services for STRA6 Sirion Biotech Customized inducible overexpressing cell line services for STRA6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STRA6

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Retinoid metabolism and transport

Visual phototransduction

0.74

Diseases associated with visual transduction

0.73

Disease

Disease

1.00

Defective STRA6 does not transport atROL

Defective STRA6 does not transport atROL

1.00

Signaling by GPCR

Signal Transduction

0.56

the visual cycle I (vertebrates)

The canonical retinoid cycle in rods (twilight vision)

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 Reactome Pathways for STRA6 (see all 7)

	Diseases associated with visual transduction
	Retinoid cycle disease events
	Signal Transduction
	Defective STRA6 does not transport atROL
	The canonical retinoid cycle in rods (twilight vision)

STRA6 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for STRA6

Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001568	blood vessel development	IMP	17273977
GO:0001822	kidney development	IMP	17273977
GO:0003184	pulmonary valve morphogenesis	IMP	17273977
GO:0003281	ventricular septum development	IMP	17273977
GO:0006810	transport	--	--

STRA6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for STRA6
Search CenterWatch for drugs/clinical trials and news about STRA6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for STRA6 gene (8 alternative transcripts):

NM_001142617.1 NM_001142618.1 NM_001142619.1 NM_001142620.1 NM_001199040.1 NM_001199041.1 NM_001199042.1 NM_022369.3

Unigene Cluster for STRA6:

Stimulated by retinoic acid 6

Hs.24553 [show with all ESTs]

Unigene Representative Sequence: NM_001199042

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000395105(uc010ulh.2 uc002axk.3 uc002axj.3) ENST00000423167

ENST00000323940(uc002axm.3 uc002axn.3) ENST00000449139(uc021sqg.1 uc010uli.2)

ENST00000416286 ENST00000545137(uc002axi.3) ENST00000574439(uc002axl.3 uc010bji.3)

ENST00000535552 ENST00000563965 ENST00000574278 ENST00000572785 ENST00000575272

ENST00000569936(uc010bjj.1) ENST00000572975 ENST00000432245(uc010bjk.3)

ENST00000573724 ENST00000573456 ENST00000573214

miRNA Products:		OriGene 3'-UTR Clone (see all 5): STRA6 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STRA6
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate STRA6:
		hsa-miR-1287 hsa-miR-1231 hsa-miR-544b hsa-miR-149 hsa-miR-130b* hsa-miR-323b-5p
		SwitchGear 3'UTR luciferase reporter plasmid: STRA6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STRA6 (see all 7) OriGene shRNA RFP: STRA6 OriGene siRNA: STRA6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STRA6
		Sirion Biotech Custom design and validation of potent shRNA sequences against STRA6

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STRA6 (see all 13) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STRA6 (see all 6) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 8): STRA6 (NM_022369)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for STRA6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STRA6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STRA6 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STRA6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STRA6

Additional cDNA sequence:

AF352728.1 AF352729.1 AF370419.2 AK022603.1 AK056125.1 AK091152.1 AK092227.1 AK291966.1

AK298921.1 AK298928.1 AK299191.1 AK302932.1 AK309676.1 AK310878.1 AY358748.1 AY359089.1

BC015881.2 BC025256.1 BX537413.1

23 DOTS entries:

DT.101982463 DT.208763 DT.100716853 DT.97841594 DT.100786351 DT.121072519 DT.75127321 DT.100021046

DT.121072545 DT.91840944 DT.91819609 DT.121072550 DT.95270686 DT.100694046 DT.100768898 DT.102824834

DT.102824835 DT.121072511 DT.121072530 DT.91687192 DT.91869057 DT.100676509 DT.91957371

24/120 AceView cDNA sequences (see all 120):

AI684707 CD671143 BX489378 AK092227 BF313403 AK022603 AI150687 BF314749

CN482134 BQ430926 BQ919038 BC025256 BX378695 BX281238 CB216953 BC015881

AU124712 BP345683 BX366707 AF352728 AY359089 BP346274 NM_022369 AX746811

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for STRA6 (see all 18) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^
SP1:													-		-		-				-				-				-												-				-
SP2:																	-				-				-				-												-				-
SP3:																					-				-				-		-										-				-
SP4:
SP5:													-		-		-				-				-				-

ExUns:	16a	·	16b	^	17a	·	17b	^	18	^	19a	·	19b	^	20a	·	20b	^	21a	·	21b	^	22	^	23	^	24a	·	24b
SP1:					-		-						-		-
SP2:					-		-						-		-
SP3:					-		-						-		-
SP4:					-		-				-		-		-				-
SP5:

ECgene alternative splicing isoforms for STRA6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

STRA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTCAGACCA

About this image

STRA6 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovary

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Spinal Cord

Spinal Dorsal Columns

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)

Extraembryonic Tissues

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Mature brain microvascular endothelial cells (Derivation of blood-...)

Endothelial cells and neural cells (Derivation of blood-...)

Extraembryonic endoderm-like cells (Generation of extrae...)

See STRA6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STRA6

SOURCE GeneReport for Unigene cluster: Hs.24553

UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79

Tissue specificity: Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and

trabecular meshwork but not in choroid and iris

SABiosciences Custom PCR Arrays for STRA6

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STRA6

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STRA6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for STRA6 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Stra6^{1 , 5}	stimulated by retinoic acid gene 6^{1, 5}	79(n)¹ 74.29(a)¹	9 (31.63 cM)⁵ 20897¹ NM_009291.2¹ NP_033317.2¹ 58063788⁵
chicken (Gallus gallus)	Aves	STRA6¹	stimulated by retinoic acid gene 6 homolog (mouse)	63.27(n) 52.98(a)	415301 XM_413689.3 XP_413689.3
zebrafish (Danio rerio)	Actinopterygii	stra6¹	stimulated by retinoic acid gene 6 homolog (mouse)	55.77(n) 44.77(a)	724007 NM_001045312.1 NP_001038777.1

ENSEMBL Gene Tree for STRA6 (if available)
TreeFam Gene Tree for STRA6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118203960^1,2	C	pathogenic	51266165(-)	`CTACAC/TGCTGC`	14	T M	mis¹		1		NA	4550
rs118203962^1,2	C,F	pathogenic	51275256(-)	`TACCCA/CCTATC`	14	T P	mis¹		1		NA	4256
rs71399778^1,2	C,F	--	51265049(+)	`ACCAAG/CCCCCC`	7	--	ds500¹		5		NA CSA	127
rs78799060^1,2	F	--	51265135(+)	`CTACGC/TTATGT`	7	--	ds500¹		1		NA	6
rs62005710^1,2	C	--	51265464(+)	`CCTCCC/TGCTAT`	7	--	ds500¹		3		NA CSA	123
rs78299262^1,2	C	--	51265523(+)	`CTTTCA/GTAATA`	7	--	ut3¹		2		CSA WA	119
rs75117524^1,2	C,F	--	51265603(+)	`GAGTCA/GTGACT`	7	--	ut3¹		1		WA	118
rs28447005^1,2		--	51265708(+)	`TCCACA/GGCGTG`	7	--	ut3¹ ese³		1		WA	118
rs182529524^1,2	C	--	51266017(+)	`GGAGAG/TCCGGG`	7	--	ut3¹		0	--	--	--	--
rs111578620^1,2	C	--	51266595(+)	`CACATG/ATGGTG`	7	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for STRA6 (74471807 - 74504608 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for STRA6
1 Inversion: 37170
Human Gene Mutation Database (HGMD): STRA6

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STRA6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

STRA6 for disorders           About GeneDecksing

OMIM gene information: 610745
OMIM disorders: 601186
UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79

Defects in STRA6 are the cause of microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]; also called

Matthew-Wood syndrome or Spear syndrome. Microphthalmia is a clinically heterogeneous disorder of eye formation,

ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases,

microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS9 is a

rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia

or aplasia

Note=Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye

characterized by an abnormally small ocular globe

18 diseases for STRA6: About MalaCards

retinol binding protein microphthalmia microphthalmia syndromic 9 anophthalmia/microphthalmia

diaphragmatic eventration alveolar capillary dysplasia imperforate anus congenital diaphragmatic hernia

congenital heart defect intestinal atresia anophthalmia hernia

intrahepatic cholangiocarcinoma coloboma cholangiocarcinoma choroiditis

colorectal cancer retinitis

3 diseases from the University of Copenhagen DISEASES database for STRA6:

Diaphragmatic eventration Microphthalmia Congenital diaphragmatic hernia

Human Genome Epidemiology (HuGE) Navigator: STRA6 (3 documents)

Export disorders for STRA6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for STRA6 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with STRA6)

Utopia: connect your pdf to the dynamic
world of online information

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (PubMed id 21901792)^{1, 2} Casey J.... Ennis S. (2011)
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. (PubMed id 19309693)^{1, 2} Chassaing N.... Calvas P. (2009)
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (PubMed id 19112531)^{1, 2} White T.... Young T.L. (2008)
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. (PubMed id 17273977)^{1, 2} Pasutto F.... Rauch A. (2007)
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. (PubMed id 17503335)^{1, 2} Golzio C....Etchevers H.C. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
Overexpression of the retinoic acid-responsive gene Stra6 in human cancers and its synergistic induction by Wnt-1 and retinoic acid. (PubMed id 11358845)^{1, 2} Szeto W....Pennica D. (2001)
Transthyretin blocks retinol uptake and cell signaling by the holo-retinol-binding protein receptor STRA6. (PubMed id 22826435)¹ Berry D.C....Noy N. (2012)
Cross talk between signaling and vitamin A transport b y the retinol-binding protein receptor STRA6. (PubMed id 22665496)¹ Berry D.C....Noy N. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 64220	HGNC: 30650	AceView: FLJ12541	Ensembl:ENSG00000137868	euGenes: HUgn64220
ECgene: STRA6	H-InvDB: STRA6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for STRA6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for STRA6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for STRA6 gene:
Search GeneIP for patents involving STRA6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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stimulated by retinoic acid 6

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stimulated by retinoic acid 6

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