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STRA6 Gene

protein-coding   GIFtS: 53
GCID: GC15M074471

Stimulated By Retinoic Acid 6

(Previous names: stimulated by retinoic acid gene 6 homolog (mouse), stimulated...)
  See STRA6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Stimulated By Retinoic Acid 61 2     Stimulated By Retinoic Acid Gene 6 Homolog (Mouse)1
MCOPCB82 5     Stimulated By Retinoic Acid 6 Homolog2
MCOPS92 5     Stimulated By Retinoic Acid Gene 6 Homolog2
Stimulated By Retinoic Acid 6 Homolog (Mouse)1     Stimulated By Retinoic Acid Gene 6 Protein Homolog2

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for STRA6 Gene:
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)

GeneCards Summary for STRA6 Gene:
STRA6 (stimulated by retinoic acid 6) is a protein-coding gene. Diseases associated with STRA6 include microphthalmia, isolated, with coloboma 8, and matthew-wood syndrome. GO annotations related to this gene include vitamin transporter activity and receptor activity.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 plasmidSTRA6 promoter sequence
   Search Chromatin IP Primers for STRA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Sequence caution: Sequence=BAB14122.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAH13848.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD97655.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K7F1 B7Z5M9 B7Z862 D3DW54 F5GYI8 I3L1G8 Q6PJF8 Q71RB9 Q7L9G1 Q7Z3U9
Q8TB21 Q9BX78 Q9H9U8
Alternative splicing: 6 isoforms:  Q9BX79-1   Q9BX79-2   Q9BX79-3   Q9BX79-4   Q9BX79-5   Q9BX79-6   (No experimental confirmation available)

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

Explore proteomics data for STRA6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn8
  • Modification sites at PhosphoSitePlus

  • See STRA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    STRA6 Human Recombinant Protein Products:

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    Novus Biologicals STRA6 Protein
    Novus Biologicals STRA6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for STRA6

     
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    STRA6 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for STRA6

    STRA6 Assay Products:

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    Search eBioscience for ELISAs for STRA6 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026612 STRA6

    Graphical View of Domain Structure for InterPro Entry Q9BX79

    ProtoNet protein and cluster: Q9BX79


    Find genes that share domains with STRA6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0051183vitamin transporter activity IEA--
         
    Find genes that share ontologies with STRA6           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for STRA6:
     Decreased viability with pacli  Large cells 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Stra6):
     adipose tissue  embryogenesis  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system  no phenotypic analysis  pigmentation  vision/eye 

    Find genes that share phenotypes with STRA6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stra6tm1Nbg for STRA6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STRA6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STRA6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STRA6

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    hsa-miR-1287 hsa-miR-1231 hsa-miR-544b hsa-miR-149 hsa-miR-130b* hsa-miR-323b-5p
    SwitchGear 3'UTR luciferase reporter plasmidSTRA6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat STRA6

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    GenScript: all cDNA clones in your preferred vector (see all 8): STRA6 (NM_022369)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STRA6

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STRA6_HUMAN, Q9BX79: Cell membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0043234protein complex IDA--

    Find genes that share ontologies with STRA6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for STRA6 About    
    See pathways by source

    SuperPathContained pathways About
    1Diseases associated with visual transduction
    Visual phototransduction0.44
    Retinoid cycle disease events0.00
    Diseases associated with visual transduction0.43
    2Signaling by GPCR
    Signal Transduction0.58
    3the visual cycle I (vertebrates)
    The canonical retinoid cycle in rods (twilight vision)0.44
    4Disease
    Disease


    Find genes that share SuperPaths with STRA6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for STRA6
        Retinoid cycle disease events
    The canonical retinoid cycle in rods (twilight vision)


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STRA6
    Interactions:

        Search GeneGlobe Interaction Network for STRA6

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0001568blood vessel development IMP17273977
    GO:0001822kidney development IMP17273977
    GO:0003184pulmonary valve morphogenesis IMP17273977
    GO:0003281ventricular septum development IMP17273977

    Find genes that share ontologies with STRA6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STRA6



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
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    6 qRT-PCR 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 plasmidSTRA6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat STRA6
    Clone
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    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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STRA6
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STRA6
      QuantiTect SYBR Green Assays in human, mouse, rat STRA6
      QuantiFast Probe-based Assays in human, mouse, rat STRA6

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 120):

    BC025256 BQ919038 BQ430926 BC015881 AK092227 CB216953 AU124712 BF314749 
    CN482134 BX366707 BP345683 BF313403 AI150687 AK022603 AY359089 AF352728 
    BP346274 NM_022369 BX281238 BX378695 AI684707 CD671143 BX489378 AK091152 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    STRA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCAGACCA
    STRA6 Expression
    About this image


    STRA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     NULL (Uncategorized)
             Endothelial cells and neural cells
     
     Head Mesenchyme (Muscoskeletal System)
             Frontonasal Process
    STRA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STRA6 Protein Expression

    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

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    In Situ
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for STRA6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stra61 , 5 stimulated by retinoic acid gene 61, 5 79(n)1
    74.29(a)1
      9 (31.63 cM)5
    208971  NM_001162479.11  NP_001155951.11 
     580637885 
    chicken
    (Gallus gallus)
    Aves STRA61 stimulated by retinoic acid gene 6 homolog (mouse) 63.17(n)
    52.66(a)
      415301  XM_413689.4  XP_413689.3 
    lizard
    (Anolis carolinensis)
    Reptilia STRA66
    stimulated by retinoic acid 6
    16(a)
    1 ↔ 1
    GL343666.1(207905-233798)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia stra61 stimulated by retinoic acid 6 51.7(n)
    42.49(a)
      100124902  XM_002934548.2  XP_002934594.2 
    zebrafish
    (Danio rerio)
    Actinopterygii stra61 stimulated by retinoic acid gene 6 homolog (mouse) 55.88(n)
    44.61(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

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STRA6 (see all 804)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1182039621,2,,4
    C,FMicrophthalmia, syndromic, 9 (MCOPS9)4 pathogenic154530555(-) TACCCA/CCTATC 14 T P mis11Minor allele frequency- C:0.00NA 4256
    VAR_0371694
    Microphthalmia, syndromic, 9 (MCOPS9)4--see VAR_0371692 P L mis40--------
    VAR_0371744
    Microphthalmia, syndromic, 9 (MCOPS9)4--see VAR_0371742 T M mis40--------
    VAR_0371684
    Microphthalmia, syndromic, 9 (MCOPS9)4--see VAR_0371682 P L mis40--------
    VAR_0668494
    Microphthalmia, syndromic, 9 (MCOPS9)4--see VAR_0668492 G K mis40--------
    VAR_0371754
    Microphthalmia, syndromic, 9 (MCOPS9)4--see VAR_0371752 R C mis40--------
    rs1182039601,2
    Cpathogenic154521464(-) CTACAC/TGCTGC 14 T M mis11Minor allele frequency- T:0.00NA 4550
    rs1182039581,2
    Cpathogenic154532200(-) TCTCCC/TGCTGA 14 P L mis10--------
    rs620057091,2
    C,F--54520301(+) TGGACC/TCAGGG 7 -- ds50014Minor allele frequency- T:0.15NA 126
    rs1418347621,2
    --54520326(+) ATATAC/TCCCGC 7 -- ds50010--------

    HapMap Linkage Disequilibrium report for STRA6 (74471807 - 74504608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for STRA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833054CNV Loss17160897
    dgv2405n71CNV Loss21882294
    nsv471253CNV Loss18288195
    dgv2404n71CNV Loss21882294
    nsv833053CNV Loss17160897
    nsv510938CNV Complex20534489

    Human Gene Mutation Database (HGMD): STRA6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STRA6
    DNA2.0 Custom Variant and Variant Library Synthesis for STRA6

    (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.)
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    OMIM gene information: 610745   
    OMIM disorders: 601186  
    UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79
  • Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]: A rare clinical entity including as main
    characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a
    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. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Note=Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye
    characterized by an abnormally small ocular globe

  • 7 diseases for STRA6:    
    About MalaCards
    microphthalmia, isolated, with coloboma 8    matthew-wood syndrome    diaphragmatic eventration    alveolar capillary dysplasia
    anophthalmia/microphthalmia    microphthalmia    coloboma

    3 diseases from the University of Copenhagen DISEASES database for STRA6:
    Diaphragmatic eventration     Congenital diaphragmatic hernia     Microphthalmia

    Find genes that share disorders with STRA6           About GenesLikeMe

    Genetic Association Database (GAD): STRA6
    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)
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    PubMed articles for STRA6 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with STRA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (PubMed id 19112531)1, 2, 4 White T.... Young T.L. (Mol. Vis. 2008)
    2. 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. (Hum. Mutat. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Case-control analysis of SNPs in GLUT4, RBP4 and STRA6: association of SNPs in STRA6 with type 2 diabetes in a South Indian population. (PubMed id 20625434)1, 4 Nair A.K....Anilkumar G. (PLoS ONE 2010)
    5. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. (PubMed id 19309693)1, 2 Chassaing N.... Calvas P. (Hum. Mutat. 2009)
    6. 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. (Am. J. Hum. Genet. 2007)
    7. 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. (Am. J. Hum. Genet. 2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2003)
    10. 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. (Cancer Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 64220 HGNC: 30650 AceView: FLJ12541 Ensembl:ENSG00000137868 euGenes: HUgn64220
    ECgene: STRA6 H-InvDB: STRA6

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

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    NameDescription
    PharmGKB entry for STRA6 Pharmacogenomics, SNPs, Pathways

    (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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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