Aliases for STRA6 Gene
Aliases for STRA6 Gene
External Ids for STRA6 Gene
- HGNC: 30650
- Entrez Gene: 64220
- Ensembl: ENSG00000137868
- OMIM: 610745
- UniProtKB: Q9BX79
Previous GeneCards Identifiers for STRA6 Gene
- GC15M072260
- GC15M074471
- GC15M051265
Summaries 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 the visual cycle I (vertebrates) and Retinoid cycle disease events. 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around STRA6 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the STRA6 gene promoter:
Regulatory Element Products
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:
-
- 15q24.1 by Ensembl
- 15q24.1 by Entrez Gene
- 15q24.1 by HGNC
STRA6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for STRA6 Gene
Post-translational modifications for STRA6 Gene
Other Protein References for STRA6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for STRA6 (STRA6)
-
Custom Antibody ServicesOriGene Antibodies for STRA6
- Novus Biologicals Antibodies for STRA6
-
Abcam antibodies for STRA6
- Invitrogen Antibodies for STRA6
- antibodies-online Antibodies for STRA6: See all 69
- GeneTex STRA6 antibody for STRA6
Protein Products
-
OriGene Purified Proteins for STRA6
- Search Origene for MassSpec and Protein Over-expression Lysates for STRA6
- Origene Custom Protein Services for STRA6
- antibodies-online Proteins for STRA6: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for STRA6
-
Abcam proteins for STRA6
Assay Products
- antibodies-online Kits for STRA6: See all 1
No data available for DME Specific Peptides for STRA6 Gene
Domains & Families for STRA6 Gene
Suggested Antigen Peptide Sequences for STRA6 Gene
Graphical View of Domain Structure for InterPro Entry
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004872 | receptor activity | IEA | -- |
| GO:0051183 | vitamin transporter activity | IEA | -- |
Phenotypes for STRA6 Gene
- MGI mutant phenotypes for STRA6:
-
inferred from 6 alleles
- mortality/aging
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- vision/eye phenotype
- skeleton phenotype
- embryo phenotype
- pigmentation phenotype
- craniofacial phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for STRA6:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Decreased hepcidin::fluc mRNA expression
- Mildly decreased CFP-tsO45G cell surface transport
- Lamellipodia cells
- Decreased ionizing radiation sensitivity
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- FOXO1 nuclear localization
- Decreased viability with paclitaxel
Animal Models for STRA6 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for STRA6
- Cyagen custom Knockout/knockin (KOKI) mouse models for STRA6
-
- Search ViGene Biosciences for STRA6
CRISPR Products
-
OriGene CRISPR knockouts for STRA6
-
Santa Cruz Biotechnology (SCBT) CRISPR for STRA6
- GenScript: Design CRISPR guide RNA sequences for STRA6
miRNA Products
- Search ViGene Biosciences for STRA6
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for STRA6
- Browse OriGene Inhibitory RNA Products For STRA6
Clone Products
-
OriGene ORF clones in human for STRA6
- RC227393
- RC227393L1
- RC227393L2
- RG227393
- RC227472
- RC227472L1
- RC227472L2
- RG227472
- RC227505
- RC227505L1
- RC227505L2
- RG227505
- RC227536
- RC227536L1
- RC227536L2
- RG227536
- RC231384
- RC231384L1
- RC231384L2
- RG231384
- RC231373
- RC231373L1
- RC231373L2
- RG231373
- RC231385
- RC231385L1
- RC231385L2
- RG231385
- RC206826
- RC206826L1
- RC206826L2
- RG206826
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for STRA6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for STRA6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for STRA6
Cell Line Products
-
Horizon Cell Lines for STRA6
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| 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 | -- |
Pathways & Interactions for STRA6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIV Life Cycle |
.45
|
|
| 2 | Retinoid cycle disease events | ||
| 3 | Signaling by GPCR | ||
| 4 | the visual cycle I (vertebrates) | ||
| 5 | Metabolism of fat-soluble vitamins | ||
Pathways by source for STRA6 Gene
7 Reactome pathways for STRA6 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for STRA6 Gene
Transcripts for STRA6 Gene
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:
CRISPR Products
-
OriGene CRISPR knockouts for STRA6
-
Santa Cruz Biotechnology (SCBT) CRISPR for STRA6
- GenScript: Design CRISPR guide RNA sequences for STRA6
miRNA Products
- Search ViGene Biosciences for STRA6
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for STRA6
- Browse OriGene Inhibitory RNA Products For STRA6
Clone Products
-
OriGene ORF clones in human for STRA6
- RC227393
- RC227393L1
- RC227393L2
- RG227393
- RC227472
- RC227472L1
- RC227472L2
- RG227472
- RC227505
- RC227505L1
- RC227505L2
- RG227505
- RC227536
- RC227536L1
- RC227536L2
- RG227536
- RC231384
- RC231384L1
- RC231384L2
- RG231384
- RC231373
- RC231373L1
- RC231373L2
- RG231373
- RC231385
- RC231385L1
- RC231385L2
- RG231385
- RC206826
- RC206826L1
- RC206826L2
- RG206826
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for STRA6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for STRA6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for STRA6
| 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: |
Expression for STRA6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
- Neural Tube (Nervous System)
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
-
Eye (Sensory Organs)
- Lens Vesicle Cells Lens Vesicle
- Head Mesenchyme (Muscoskeletal System)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Extraembryonic Tissues (Extraembryonic Tissues)
- Uncategorized
- Endothelium (Cardiovascular System)
- Brain (Nervous System)
- NULL (Uncategorized)
-
Placenta (Extraembryonic Tissues)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of STRA6 Gene:
STRA6SOURCE GeneReport for Unigene cluster for STRA6 Gene:
Hs.24553mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for STRA6
-
OriGene qPCR primer pairs for STRA6
Orthologs for STRA6 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | STRA6 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | STRA6 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | STRA6 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Stra6 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Stra6 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | STRA6 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | STRA6 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | STRA6 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | STRA6 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | stra6 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | stra6 34 35 |
|
- 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)
Paralogs for STRA6 Gene
No data available for Paralogs for STRA6 Gene
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STRA6 Gene
Disorders for STRA6 Gene
(11) MalaCards diseases for STRA6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microphthalmia, syndromic 9 |
|
|
| colobomatous microphthalmia |
|
|
| diaphragmatic eventration |
|
|
| anophthalmia/microphthalmia |
|
|
| microphthalmia |
|
|
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
No data available for Genatlas for STRA6 Gene
Publications for STRA6 Gene
- 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
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for STRA6 (STRA6)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for STRA6
- Browse Primary Antibodies
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for STRA6
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for STRA6
- Search Origene for MassSpec and Protein Over-expression Lysates for STRA6
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- OriGene qPCR primer pairs and template standards for STRA6
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for STRA6 in any vector
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- Abcam antibodies for STRA6
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- Find your target
- Search knockout validated antibodies
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- Taconic Biosciences Mouse Models for STRA6
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- Humanized Mice
- Invitrogen Antibodies for STRA6
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- antibodies-online Antibodies for STRA6: See all 69
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- Search antibodies-online for peptides
- GeneTex STRA6 antibody for STRA6
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- Horizon Cell Lines for STRA6
- Cyagen custom Knockout/knockin (KOKI) mouse models for STRA6
- VectorBuilder custom plasmid, inducible vectors for STRA6
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- Mammalian expression: PiggyBac
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for STRA6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (16) MGI
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
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- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer