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Aliases for STRA6 Gene

Aliases for STRA6 Gene

  • Stimulated By Retinoic Acid 6 2 3 5
  • Retinol Binding Protein 4 Receptor 2 3
  • Stimulated By Retinoic Acid Gene 6 Homolog (Mouse) 2
  • Stimulated By Retinoic Acid Gene 6 Protein Homolog 3
  • Stimulated By Retinoic Acid 6 Homolog (Mouse) 2
  • Stimulated By Retinoic Acid Gene 6 Homolog 3
  • Stimulated By Retinoic Acid 6 Homolog 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 Retinoid cycle disease events and Signaling by GPCR. GO annotations related to this gene include receptor activity and vitamin transporter activity.

UniProtKB/Swiss-Prot for STRA6 Gene

  • 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).

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

Regulatory Elements for STRA6 Gene

Enhancers for STRA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G074168 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +40.5 40509 7.3 CREB3L1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ZNF610 ISLR STRA6 ENSG00000261543 CCDC33 EDC3 ISLR2 SCAMP5 UBL7 CD276 PML
GH15G074249 1.5 Ensembl ENCODE dbSUPER 11.6 -39.6 -39584 3.8 HDGF ATF1 PKNOX1 ARNT CREB3L1 SIN3A DMAP1 ZNF48 ZNF2 YY1 CCDC33 STRA6 ISLR RPP25 LOC105370893 PIR42753
GH15G074239 1.5 Ensembl ENCODE dbSUPER 11.4 -27.8 -27843 1.9 HDGF SIN3A YY1 GLIS2 ZNF143 FOS ZNF263 SP3 REST SREBF1 ISLR CCDC33 STRA6 LOC283731 ISLR2 RPP25 LOC105370893 PIR42753
GH15G074316 1.3 Ensembl ENCODE 10.8 -106.3 -106278 4.3 HDGF PKNOX1 ARNT SIN3A ZNF766 ZNF143 KLF13 ZNF263 NFYC REST ISLR LOC101929333 UBL7-AS1 CCDC33 STRA6 CSK LOXL1 ISLR2 SCAMP5 ENSG00000277749
GH15G074245 1.2 Ensembl ENCODE dbSUPER 11.4 -33.5 -33468 0.8 SCRT1 MXI1 RFX1 REST BMI1 ZNF623 EP300 E2F1 ZNF579 GATA3 ISLR CCDC33 STRA6 ISLR2 LOC105370893 PIR42753
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STRA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for STRA6 Gene

Chromosome:
15
Start:
74,179,466 bp from pter
End:
74,212,267 bp from pter
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:
    Stimulated by retinoic acid gene 6 protein homolog
    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:
    No Data Available
    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

neXtProt entry for STRA6 Gene

Post-translational modifications for STRA6 Gene

  • Glycosylation at Asn8
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STRA6 Gene

Domains & Families for STRA6 Gene

Protein Domains for STRA6 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for STRA6 Gene

Function for STRA6 Gene

Molecular function for STRA6 Gene

UniProtKB/Swiss-Prot 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).
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:0051183 vitamin transporter 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

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.

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

Gene Ontology (GO) - Cellular Components for STRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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

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

No Compound Related Data Available

Transcripts for STRA6 Gene

Unigene Clusters for STRA6 Gene

Stimulated by retinoic acid 6:
Representative Sequences:

CRISPR Products

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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

Primer Products

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 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia STRA6 34 35
  • 84.96 (n)
dog
(Canis familiaris)
Mammalia STRA6 34 35
  • 84.82 (n)
mouse
(Mus musculus)
Mammalia Stra6 34 16 35
  • 79 (n)
rat
(Rattus norvegicus)
Mammalia Stra6 34
  • 79 (n)
oppossum
(Monodelphis domestica)
Mammalia STRA6 35
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STRA6 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves STRA6 34 35
  • 63.17 (n)
lizard
(Anolis carolinensis)
Reptilia STRA6 35
  • 16 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stra6 34
  • 51.7 (n)
zebrafish
(Danio rerio)
Actinopterygii stra6 34 35
  • 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 Sequence Context AA Info Type
rs118203958 Pathogenic, Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] 74,190,889(-) TCTCC(C/T)GCTGA nc-transcript-variant, reference, missense
rs118203959 Pathogenic, Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] 74,180,121(-) TCTTC(C/T)GCAAG reference, missense
rs118203960 Pathogenic, Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] 74,180,153(-) CTACA(C/T)GCTGC reference, missense
rs118203961 Pathogenic, Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] 74,196,145(-) TAGCC(C/T)TGTGG intron-variant, nc-transcript-variant, reference, missense
rs118203962 Pathogenic, Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] 74,189,244(-) TACCC(A/C)CTATC nc-transcript-variant, reference, missense

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)

Relevant External Links 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

(11) MalaCards diseases for STRA6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, syndromic 9
  • microphthalmia, isolated, with coloboma 8
colobomatous microphthalmia
  • mac
diaphragmatic eventration
anophthalmia/microphthalmia
microphthalmia
  • microphthalmos
- 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: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}.

Relevant External Links for STRA6

Genetic Association Database (GAD)
STRA6
Human Genome Epidemiology (HuGE) Navigator
STRA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STRA6
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 T.L. (Mol. Vis. 2008) 3 4 46 64
  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. (Am. J. Hum. Genet. 2007) 2 3 4 64
  3. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (PMID: 21901792) Casey J. … Ennis S. (Hum. Mutat. 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Case-control analysis of SNPs in GLUT4, RBP4 and STRA6: association of SNPs in STRA6 with type 2 diabetes in a South Indian population. (PMID: 20625434) Nair A.K. … Anilkumar G. (PLoS ONE 2010) 3 46 64

Products for STRA6 Gene

Sources for STRA6 Gene

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