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STRA6 Gene(Protein Coding)

Stimulated By Retinoic Acid 6

GCID:
GC15M074179
GIFtS:
48
Genes Participants
UDN Logo

Aliases for STRA6 Gene

Aliases for STRA6 Gene

  • Stimulated By Retinoic Acid 6 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
  • Stimulated By Retinoic Acid Gene 6 Homolog (Mouse) 2
  • Stimulated By Retinoic Acid 6 Homolog (Mouse) 2
  • Stimulated By Retinoic Acid Gene 6 Homolog 3
  • Stimulated By Retinoic Acid 6 Homolog 3
  • Receptor For Retinol Uptake STRA6 3
  • MCOPCB8 3
  • PP14296 3
  • MCOPS9 3

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 (Stimulated By Retinoic Acid 6) is a Protein Coding gene. Diseases associated with STRA6 include Microphthalmia, Syndromic 9 and Colobomatous Microphthalmia. Among its related pathways are Diseases associated with visual transduction and the visual cycle I (vertebrates). Gene Ontology (GO) annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot 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).

Additional gene information for STRA6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STRA6 Gene

Genomics for STRA6 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for STRA6 Gene

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
GH15I074199 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.4 +10.2 10224 5.3 SIN3A FEZF1 ZNF2 GLIS2 ZNF143 ZNF548 FOS DEK SP3 JUNB CCDC33 STRA6 PML ISLR2 ISLR ENSG00000261543
GH15I074207 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.7 2651 3.5 ATF1 PKNOX1 FEZF1 ETS1 GLIS2 FOS ATF7 RUNX3 YY2 REST STRA6 EDC3 ISLR2 LOC283731 CCDC33
GH15I074168 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +40.5 40509 7.3 ZNF473 ZSCAN4 GLI4 ZNF48 ZNF2 SCRT2 EGR2 ZIK1 ZNF398 ZNF645 ISLR EDC3 FAM219B STRA6 ENSG00000261543 CCDC33 ISLR2 SCAMP5 UBL7 CD276
GH15I074316 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.8 -106.3 -106277 4.3 HDGF GLIS2 ZNF143 KLF7 RUNX3 YY2 NFYC REST ZSCAN16 GLIS1 CCDC33 ENSG00000277749 PML ISLR LOC101929333 CLK3 UBL7-AS1 STRA6 SCAMP2 CSK
GH15I074239 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.4 -27.8 -27843 1.9 HDGF YY1 GLIS2 ZNF143 FOS SP3 RXRA REST SREBF1 ZNF610 ISLR CCDC33 STRA6 LOC283731 ISLR2 RPP25 LOC105370893 PIR42753
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STRA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STRA6 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for STRA6 Gene

Proteins for STRA6 Gene

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  • 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH13848.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD97655.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for STRA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STRA6 Gene

Protein Expression for STRA6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=88

Other Protein References for STRA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:

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

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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.

Gene Ontology (GO) - Molecular Function for STRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
GO:0034632 retinol transmembrane transporter activity IDA 21901792
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

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:0043234 protein complex IDA --
genes like me logo Genes that share ontologies with STRA6: view

Pathways & Interactions for STRA6 Gene

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

Interacting Proteins for STRA6 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000456609%0d%0a9606.ENSP00000232219%0d%0a9606.ENSP00000237014%0d%0a9606.ENSP00000360519%0d%0a9606.ENSP00000272298%0d%0a9606.ENSP00000291295%0d%0a
Selected Interacting proteins: Q9BX79-STRA6_HUMAN ENSP00000456609 for STRA6 Gene via IID UniProtKB STRING

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

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  1. Drug
No Compound Related Data Available

Transcripts for STRA6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for STRA6 Gene

(14) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(120) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for STRA6 Gene

Stimulated by retinoic acid 6:
Representative Sequences:

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
ECgene alternative splicing isoforms for
STRA6

Expression for STRA6 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for STRA6 Gene
mRNA expression by GTEx for STRA6 GenemRNA expression by BioGPS 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, PaxDb, MaxQB, and MOPED for STRA6 Gene



Protein tissue co-expression partners for STRA6 Gene

NURSA nuclear receptor signaling pathways regulating expression of STRA6 Gene:

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(4.7)
  • Muscle(4.1)

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
Organs:
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 33 34
  • 99.15 (n)
cow
(Bos Taurus)
 Mammalia STRA6 33 34
  • 84.96 (n)
dog
(Canis familiaris)
 Mammalia STRA6 33 34
  • 84.82 (n)
mouse
(Mus musculus)
 Mammalia Stra6 33 16 34
  • 79 (n)
rat
(Rattus norvegicus)
 Mammalia Stra6 33
  • 79 (n)
oppossum
(Monodelphis domestica)
 Mammalia STRA6 34
  • 56 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia STRA6 34
  • 50 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves STRA6 33 34
  • 63.17 (n)
lizard
(Anolis carolinensis)
 Reptilia STRA6 34
  • 16 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia stra6 33
  • 51.7 (n)
zebrafish
(Danio rerio)
 Actinopterygii stra6 33 34
  • 55.88 (n)
Species where no ortholog for STRA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for STRA6 Gene

No data available for Paralogs for STRA6 Gene

Variants for STRA6 Gene

Sequence variations from dbSNP and Humsavar for STRA6 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs10910 benign, Syndromic Microphthalmia, Recessive 74,179,858(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111489755 uncertain-significance, Syndromic Microphthalmia, Recessive 74,202,177(-) C/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs115067613 benign, Microphthalmia syndromic 9 74,196,047(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs115331762 uncertain-significance, likely-benign, Syndromic Microphthalmia, Recessive, not provided 74,180,851(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs11631944 likely-benign, Syndromic Microphthalmia, Recessive 74,179,953(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

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

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

Disorders for STRA6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microphthalmia, syndromic 9
  • mcops9
colobomatous microphthalmia
  • microphthalmia with colobomatous cyst
diaphragmatic eventration
microphthalmia
  • microphthalmos
alveolar capillary dysplasia
  • alveolar capillary dysplasia with misalignment of pulmonary veins
- 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
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 44 58
  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 58
  3. Structure of the STRA6 receptor for retinol uptake. (PMID: 27563101) Chen Y … Mancia F (Science (New York, N.Y.) 2016) 2 3 58
  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 58
  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 58

Products for STRA6 Gene

Sources for STRA6 Gene

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