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 ... See more...

Aliases for STRA6 Gene

Aliases for STRA6 Gene

  • Signaling Receptor And Transporter Of Retinol STRA6 2 3 5
  • Stimulated By Retinoic Acid Gene 6 Protein Homolog 3 4
  • Retinol-Binding Protein Receptor STRA6 3 4
  • Retinol Binding Protein 4 Receptor 2 3
  • Receptor For Retinol Uptake STRA6 3 4
  • RBP Receptor 2 3
  • Stimulated By Retinoic Acid Gene 6 Homolog (Mouse) 2
  • Stimulated By Retinoic Acid Gene 6 Homolog 3
  • Stimulated By Retinoic Acid 6 Homolog 3
  • Stimulated By Retinoic Acid 6 2
  • FLJ12541 2
  • MCOPCB8 3
  • PP14296 3
  • MCOPS9 3
  • STRA6 5

External Ids for STRA6 Gene

Previous GeneCards Identifiers for STRA6 Gene

  • GC15M072260
  • GC15M074471
  • GC15M051265

Summaries for STRA6 Gene

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 (Signaling Receptor And Transporter Of Retinol STRA6) is a Protein Coding gene. Diseases associated with STRA6 include Microphthalmia, Syndromic 9 and Colobomatous Microphthalmia. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. An important paralog of this gene is CCDC180.

UniProtKB/Swiss-Prot Summary for STRA6 Gene

  • Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:9452451, PubMed:18316031, PubMed:22665496). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STRA6 Gene

Genomics for STRA6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STRA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J074199 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +10.2 10224 5.3 CEBPG CREB1 CTCF ZBTB33 TEAD4 PRDM10 ZNF629 KDM1A ZNF692 PRDM1 CCDC33 NONHSAG017404.2 lnc-GOLGA6A-6 STRA6 PML ISLR2 ISLR lnc-GOLGA6A-5
GH15J074207 Promoter/Enhancer 1.5 EPDnew ENCODE CraniofacialAtlas dbSUPER 600.7 +2.7 2651 3.5 PRDM10 ZNF629 RFX1 KDM1A ZNF692 ZIC2 ZSCAN4 PKNOX1 PATZ1 ZNF600 STRA6 EDC3 ISLR2 ENSG00000248540 CCDC33 NONHSAG017404.2
GH15J074211 Enhancer 0.4 CraniofacialAtlas 600.7 +0.1 107 0.6 PRDM1 ZNF776 ZNF366 ZNF473 STRA6 EDC3 CCDC33 NONHSAG017404.2
GH15J074168 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +37.3 37309 13.7 ZBTB33 TEAD4 PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 ZNF776 ZSCAN4 PATZ1 ISLR EDC3 PML FAM219B ENSG00000261543 STRA6 ISLR2 CCDC33 SCAMP5 UBL7
GH15J074314 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -105.2 -105239 7.4 SP1 CTCF PRDM10 ZNF629 ZNF692 JUND PRDM1 ZNF143 RFX1 ZIC2 CCDC33 PML ISLR ENSG00000260103 CLK3 UBL7-AS1 STRA6 SCAMP2 CSK LOXL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STRA6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STRA6

Top Transcription factor binding sites by QIAGEN in the STRA6 gene promoter:
  • CP2
  • GATA-2
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for STRA6 Gene

Genomic Locations for STRA6 Gene
chr15:74,179,466-74,212,267
(GRCh38/hg38)
Size:
32,802 bases
Orientation:
Minus strand
chr15:74,471,807-74,504,608
(GRCh37/hg19)
Size:
32,802 bases
Orientation:
Minus strand

Genomic View for STRA6 Gene

Genes around STRA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STRA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STRA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STRA6 Gene

Proteins for STRA6 Gene

  • Protein details for STRA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX79-STRA6_HUMAN
    Recommended name:
    Receptor for retinol uptake STRA6
    Protein Accession:
    Q9BX79
    Secondary Accessions:
    • A8K7F1
    • B7Z5M9
    • B7Z862
    • D3DW54
    • F5GYI8
    • I3L1G8
    • Q6PJF8
    • Q71RB9
    • Q7L9G1
    • Q7Z3U9
    • Q8TB21
    • Q9BX78
    • Q9H9U8

    Protein attributes for STRA6 Gene

    Size:
    667 amino acids
    Molecular mass:
    73503 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with JAK2 and STAT5 (PubMed:21368206). Interacts (via extracellular domains) with RBP4 (PubMed:22665496). Interacts (via cytoplasmic domains) with RBP1 (PubMed:22665496).
    SequenceCaution:
    • Sequence=BAB14122.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAH13848.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD97655.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for STRA6 Gene

neXtProt entry for STRA6 Gene

Post-translational modifications for STRA6 Gene

  • Phosphorylated on tyrosine residues in response to RBP4 binding (PubMed:21368206, PubMed:22665496). Phosphorylation requires the presence of LRAT, suggesting it may be triggered by the uptake of retinol that is then metabolized within the cell to retinoids that function as signaling molecules (PubMed:22665496).
  • Glycosylation at Asn8
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STRA6 Gene

Domains & Families for STRA6 Gene

Gene Families for STRA6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for STRA6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STRA6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ34908 fis, clone NT2RI2006294, highly similar to Homo sapiens stimulated by retinoic acid gene 6 homolog (STRA6), mRNA (B3KRT6_HUMAN)
  • Stimulated by retinoic acid gene 6 protein homolog (STRA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX79

UniProtKB/Swiss-Prot:

STRA6_HUMAN :
  • Contrary to predictions, contains nine transmembrane helices, with an extracellular N-terminus and a cytoplasmic C-terminus (By similarity). Besides, contains one long helix that dips into the membrane and then runs more or less parallel to the membrane surface (By similarity).
Domain:
  • Contrary to predictions, contains nine transmembrane helices, with an extracellular N-terminus and a cytoplasmic C-terminus (By similarity). Besides, contains one long helix that dips into the membrane and then runs more or less parallel to the membrane surface (By similarity).
genes like me logo Genes that share domains with STRA6: view

Function for STRA6 Gene

Molecular function for STRA6 Gene

UniProtKB/Swiss-Prot Function:
Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:9452451, PubMed:18316031, PubMed:22665496). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031).
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for STRA6 Gene

Gene Ontology (GO) - Molecular Function for STRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
GO:0034632 retinol transmembrane transporter activity IDA 21901792
GO:0038023 signaling receptor activity IEA --
genes like me logo Genes that share ontologies with STRA6: view
genes like me logo Genes that share phenotypes with STRA6: view

Human Phenotype Ontology for STRA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STRA6 Gene

MGI Knock Outs for STRA6:

Animal Model Products

  • Taconic Biosciences Mouse Models for STRA6

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STRA6

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for STRA6 Gene

Localization for STRA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STRA6 Gene

Cell membrane. Multi-pass membrane protein. Note=In the retinal pigment epithelium localizes to the basolateral membrane. {ECO:0000250 UniProtKB:Q0V8E7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STRA6 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for STRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 21901792
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032991 protein-containing complex IDA --
genes like me logo Genes that share ontologies with STRA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STRA6 Gene

Pathways & Interactions for STRA6 Gene

genes like me logo Genes that share pathways with STRA6: view

Interacting Proteins for STRA6 Gene

Gene Ontology (GO) - Biological Process for STRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
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
genes like me logo Genes that share ontologies with STRA6: view

No data available for SIGNOR curated interactions for STRA6 Gene

Drugs & Compounds for STRA6 Gene

(1) Drugs for STRA6 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Transporter, substrate 685
genes like me logo Genes that share compounds with STRA6: view

Transcripts for STRA6 Gene

mRNA/cDNA for STRA6 Gene

8 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STRA6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STRA6 Gene

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: - - - - - -
SP6:
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: - - - - - -
SP12:
SP13: - - - - - - -
SP14: - - - - - -
SP15: -
SP16:
SP17:
SP18: - -

ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for STRA6 Gene

GeneLoc Exon Structure for
STRA6

Expression for STRA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STRA6 Gene

mRNA differential expression in normal tissues according to GTEx for STRA6 Gene

This gene is overexpressed in Cervix - Endocervix (x20.5), Uterus (x6.1), and Prostate (x4.3).

Protein differential expression in normal tissues from HIPED for STRA6 Gene

This gene is overexpressed in Placenta (39.4) and Lung (24.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STRA6 Gene



Protein tissue co-expression partners for STRA6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STRA6

SOURCE GeneReport for Unigene cluster for STRA6 Gene:

Hs.24553

mRNA Expression by UniProt/SwissProt for STRA6 Gene:

Q9BX79-STRA6_HUMAN
Tissue specificity: Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris.

Evidence on tissue expression from TISSUES for STRA6 Gene

  • Nervous system(4.8)
  • Muscle(4.4)
  • Kidney(2.4)
  • Eye(2.4)
  • Liver(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STRA6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • aorta
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
  • ureter
  • uterus
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with STRA6: view

Orthologs for STRA6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STRA6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STRA6 30 31
  • 99.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STRA6 30 31
  • 84.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STRA6 30 31
  • 84.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stra6 30 17 31
  • 79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stra6 30
  • 79 (n)
Oppossum
(Monodelphis domestica)
Mammalia STRA6 31
  • 56 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STRA6 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves STRA6 30 31
  • 63.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STRA6 31
  • 16 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stra6 30
  • 51.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii stra6 30 31
  • 55.88 (n)
OneToOne
Species where no ortholog for STRA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for STRA6 Gene

ENSEMBL:
Gene Tree for STRA6 (if available)
TreeFam:
Gene Tree for STRA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STRA6: view image

Paralogs for STRA6 Gene

Paralogs for STRA6 Gene

genes like me logo Genes that share paralogs with STRA6: view

Variants for STRA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STRA6 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
674953 Benign: not provided 74,184,898(-) G/A INTRON_VARIANT
674954 Benign: not provided 74,184,875(-) G/A INTRON_VARIANT
708447 Conflicting Interpretations: Microphthalmia syndromic 9 74,183,914(-) G/A SYNONYMOUS_VARIANT
711627 Likely Benign: not provided 74,195,295(-) C/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
718211 Likely Benign: not provided 74,193,875(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for STRA6 Gene

Structural Variations from Database of Genomic Variants (DGV) for STRA6 Gene

Variant ID Type Subtype PubMed ID
nsv1050884 CNV gain 25217958
nsv1121512 CNV deletion 24896259
nsv471253 CNV loss 18288195
nsv474279 CNV novel sequence insertion 20440878
nsv510938 OTHER complex 20534489
nsv833053 CNV loss 17160897
nsv833054 CNV loss 17160897

Variation tolerance for STRA6 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.79; 83.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STRA6 Gene

Human Gene Mutation Database (HGMD)
STRA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STRA6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STRA6 Gene

Disorders for STRA6 Gene

MalaCards: The human disease database

(16) MalaCards diseases for STRA6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, syndromic 9
  • pmd
colobomatous microphthalmia
  • microphthalmia with colobomatous cyst
syndromic microphthalmia
  • microphthalmia, syndromic
microphthalmia
  • microphthalmos
diaphragmatic eventration
- elite association - COSMIC cancer census association via MalaCards
Search STRA6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STRA6_HUMAN
  • 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. {ECO:0000269 PubMed:17273977, ECO:0000269 PubMed:17503335, ECO:0000269 PubMed:21368206, ECO:0000269 PubMed:21901792}. 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. {ECO:0000269 PubMed:21901792}.

Additional Disease Information for STRA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with STRA6: view

No data available for Genatlas for STRA6 Gene

Publications for STRA6 Gene

  1. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (PMID: 19112531) White T … Young TL (Molecular vision 2008) 3 4 41
  2. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. (PMID: 17273977) Pasutto F … Rauch A (American journal of human genetics 2007) 2 3 4
  3. Structure of the STRA6 receptor for retinol uptake. (PMID: 27563101) Chen Y … Mancia F (Science (New York, N.Y.) 2016) 2 3
  4. Cross talk between signaling and vitamin A transport by the retinol-binding protein receptor STRA6. (PMID: 22665496) Berry DC … Noy N (Molecular and cellular biology 2012) 3 4
  5. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. (PMID: 21901792) Casey J … Ennis S (Human mutation 2011) 3 4

Products for STRA6 Gene

Sources for STRA6 Gene