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OPA3 Gene

protein-coding   GIFtS: 50
GCID: GC19M046031

Optic Atrophy 3 (Autosomal Recessive, With Chorea And Spastic...

  See OPA3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Optic Atrophy 3 (Autosomal Recessive, With Chorea And Spastic
Paraplegia)1 2
MGA32 5
Optic Atrophy 3 (Iraqi-Jewish 'Optic Atrophy Plus')2
Optic Atrophy 3 Protein2

External Ids:    HGNC: 81421   Entrez Gene: 802072   Ensembl: ENSG000001257417   OMIM: 6065805   UniProtKB: Q9H6K43   

Export aliases for OPA3 gene to outside databases

Previous GC identifers: GC19M046699 GC19M046421 GC19M050706 GC19M050722 GC19M050747 GC19M042461


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OPA3 Gene:
The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have
been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct
2009)

GeneCards Summary for OPA3 Gene:
OPA3 (optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)) is a protein-coding gene. Diseases associated with OPA3 include dominant optic atrophy, and optic atrophy 3 with cataract.

UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4
Function: May play some role in mitochondrial processes

Gene Wiki entry for OPA3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OPA3 gene promoter:
         AP-2rep   NF-1   AML1a   Sp1   GATA-1   Arnt   GATA-2   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPA3 promoter sequence
   Search Chromatin IP Primers for OPA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OPA3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.2-q13.3

OPA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPA3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046031:  view genomic region     (about GC identifiers)

Start:
46,030,685 bp from pter      End:
46,105,470 bp from pter
Size:
74,786 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4 (See protein sequence)
Recommended Name: Optic atrophy 3 protein  
Size: 179 amino acids; 19996 Da
Secondary accessions: Q6P384 Q8N784
Alternative splicing: 2 isoforms:  Q9H6K4-1   Q9H6K4-2   (Ref.2 (BAC05415) sequence is in conflict in position: 130:G->E)

Explore the universe of human proteins at neXtProt for OPA3: NX_Q9H6K4

Explore proteomics data for OPA3 at MOPED


See OPA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001017989.2  NP_079412.1  

ENSEMBL proteins: 
 ENSP00000319817   ENSP00000263275   ENSP00000442839  

OPA3 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for OPA3

 
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antibodies-online proteins for OPA3 (5 products) 

 
antibodies-online peptides for OPA3

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antibodies-online antibodies for OPA3 (10 products) 

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR010754 OPA3-like

Graphical View of Domain Structure for InterPro Entry Q9H6K4

ProtoNet protein and cluster: Q9H6K4

1 Blocks protein domain: IPB010754 Optic atrophy 3

UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4
Similarity: Belongs to the OPA3 family


Find genes that share domains with OPA3           About GenesLikeMe


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

     UniProtKB/Swiss-Prot Summary: OPA3_HUMAN, Q9H6K4
Function: May play some role in mitochondrial processes

Phenotypes:
     1 GenomeRNAi human phenotype for OPA3:

 Decreased number of cells in m 

     13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Opa3):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
 growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 
 nervous system  skeleton  vision/eye 

Find genes that share phenotypes with OPA3           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for OPA3

miRNA
Products:
    
miRTarBase miRNAs that target OPA3:
hsa-mir-484 (MIRT041812), hsa-mir-1229-3p (MIRT036292), hsa-mir-3615 (MIRT052849)

Block miRNA regulation of human, mouse, rat OPA3 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate OPA3 (see all 17):
hsa-miR-1321 hsa-miR-185* hsa-let-7d hsa-miR-1260b hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-98
SwitchGear 3'UTR luciferase reporter plasmidOPA3 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat OPA3

Gene Editing
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OriGene clones in human, mouse for OPA3 (see all 12)
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GenScript: all cDNA clones in your preferred vector (see all 2): OPA3 (NM_025136)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA3

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA3


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
OPA3_HUMAN, Q9H6K4: Mitochondrion (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
cytosol1
endoplasmic reticulum1
extracellular1
golgi apparatus1
nucleus1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion NAS11668429

Find genes that share ontologies with OPA3           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OPA3
Interactions:

    Search GeneGlobe Interaction Network for OPA3

Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007601visual perception IMP15342707
GO:0019216regulation of lipid metabolic process IEA--
GO:0040007growth IEA--
GO:0050896response to stimulus IEA--
GO:0050905neuromuscular process IEA--

Find genes that share ontologies with OPA3           About GenesLikeMe



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

Browse Tocris compounds for OPA3

1 Novoseek inferred chemical compound relationship for OPA3 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
3-methylglutaconic acid 96.4 1 20350831 (1)



Find genes that share compounds with OPA3           About GenesLikeMe



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for OPA3 gene (2 alternative transcripts): 
NM_001017989.2  NM_025136.3  

Unigene Cluster for OPA3:

Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Hs.466945  [show with all ESTs]
Unigene Representative Sequence: NM_025136
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000323060(uc002pcj.4) ENST00000263275(uc002pck.4 uc010xxk.2)
ENST00000544371
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate OPA3 (see all 17):
hsa-miR-1321 hsa-miR-185* hsa-let-7d hsa-miR-1260b hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-98
SwitchGear 3'UTR luciferase reporter plasmidOPA3 3' UTR sequence
Inhib. RNA
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OriGene ORF clones in mouse, rat for OPA3
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): OPA3 (NM_025136)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPA3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA3
Primer
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OriGene qPCR primer pairs and template standards for OPA3
OriGene qSTAR qPCR primer pairs in human, mouse for OPA3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OPA3
  QuantiTect SYBR Green Assays in human, mouse, rat OPA3
  QuantiFast Probe-based Assays in human, mouse, rat OPA3

Additional mRNA sequence: 

AK025840.1 AK098798.1 AK296429.1 BC005059.1 BC047316.1 BC064146.1 

13 DOTS entries:

DT.40198663  DT.100677851  DT.100754455  DT.95228567  DT.100700817  DT.100686228  DT.40250356  DT.91736985 
DT.100737665  DT.100733332  DT.100766382  DT.121499779  DT.406032 

Selected AceView cDNA sequences (see all 74):

CA306826 BM727436 BM464645 BU501496 BI768149 BQ013305 AI087335 BC047316 
BU164977 BC064146 BQ027642 BG470851 BG826939 BX503011 BI092093 CB126251 
CD171591 BG335048 BE276139 AK025840 BG477426 CD110193 BG254652 BM126314 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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OPA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
OPA3 Expression
About this image

OPA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

OPA3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.466945

UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4
Tissue specificity: Ubiquitous. Most prominent expression in skeletal muscle and kidney

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QuantiFast Probe-based Assays in human, mouse, rat OPA3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for OPA3 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Opa31 , 5 optic atrophy 3 (human)5
optic atrophy 31
80.08(n)1
76.83(a)1
  7 (9.48 cM)5
4031871  NM_207525.31  NP_997408.21 
 192283345 
lizard
(Anolis carolinensis)
Reptilia OPA36
optic atrophy 3 (autosomal recessive, with chorea ...
54(a)
1 ↔ 1
GL344188.1(45741-53011)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.44512 Transcribed sequence with weak similarity to protein more 71.58(n)    AL891596.2 
zebrafish
(Danio rerio)
Actinopterygii Dr.248962 Danio rerio, Similar to optic atrophy 3 (autosomal more 73.99(n)    BC049503.1 
fruit fly
(Drosophila melanogaster)
Insecta CG136011 CG13601 55.41(n)
43.24(a)
  42826  NM_001275961.1  NP_001262890.1 


ENSEMBL Gene Tree for OPA3 (if available)
TreeFam Gene Tree for OPA3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for OPA3 (see all 1309)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0331044
Optic atrophy 3 (OPA3)4--see VAR_0331042 Q E mis40--------
VAR_0331034
Optic atrophy 3 (OPA3)4--see VAR_0331032 G S mis40--------
rs38268601,2
C,F,A,Hnon-pathogenic146246817(-) GCAGCC/TGAGCT 3 A int1 syn1 ese315Minor allele frequency- T:0.32NA WA CSA EA EU 4495
rs803565251,2
Cpathogenic146246735(-) GCCACC/GAGGCG 3 Q E int1 mis10--------
rs803565241,2
Cpathogenic146246771(-) TCGTGA/GGCGGC 3 S G int1 mis10--------
rs735689501,2
C,F--46033487(+) CGTGCC/TTCTAA 1 -- int14Minor allele frequency- T:0.13WA NA EA 360
rs340186461,2
C--46036314(+) GGATAA/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
rs116674291,2
C,A,H--46036316(+) ggataA/Tttttg 1 -- int10--------
rs576806131,2
C--46038628(+) TTTTT-/TGAGAT 1 -- int11Minor allele frequency- T:0.00NA 2
rs357449471,2
C--46039486(+) ATCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2

HapMap Linkage Disequilibrium report for OPA3 (46030685 - 46105470 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for OPA3:    About this table    
Variant IDTypeSubtypePubMed ID
esv2718632CNV Deletion23290073
nsv833848CNV Loss17160897
nsv912154CNV Loss21882294
nsv520061CNV Loss19592680
nsv912155CNV Loss21882294

Human Gene Mutation Database (HGMD): OPA3
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing OPA3
DNA2.0 Custom Variant and Variant Library Synthesis for OPA3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606580   
OMIM disorders: 258501  165300  
UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4
  • 3-methylglutaconic aciduria 3 (MGA3) [MIM:258501]: A metabolic disorder that causes a
    neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal
    dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is
    increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Optic atrophy 3 (OPA3) [MIM:165300]: A condition that features progressive visual loss in association
    with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in
    the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated
    with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 6 diseases for OPA3:    
    About MalaCards
    dominant optic atrophy    optic atrophy 3 with cataract    opa3-related 3-methylglutaconic aciduria    optic atrophy
    chorea    leigh-like syndrome

    2 diseases from the University of Copenhagen DISEASES database for OPA3:
    Optic atrophy     Leber hereditary optic neuropathy

    Find genes that share disorders with OPA3           About GenesLikeMe

    2 Novoseek inferred disease relationships for OPA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    optic atrophy 87.2 7 11668429 (2), 15902555 (1), 15924081 (1), 20350831 (1) (see all 5)
    developmental delay 55.8 1 15902555 (1)

    GeneTests: OPA3
    GeneReviews: OPA3
    Genetic Association Database (GAD): OPA3
    Human Genome Epidemiology (HuGE) Navigator: OPA3 (4 documents)

    Export disorders for OPA3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OPA3 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with OPA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. (PubMed id 11668429)1, 2, 3, 9 Anikster Y.... Elpeleg O. (Am. J. Hum. Genet. 2001)
    2. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PubMed id 22064162)1, 4 Edwards A.C....Dick D.M. (Psychiatr. Genet. 2012)
    3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. (PubMed id 19319978)1, 4 Ferre M....Amati-Bonneau P. (Hum. Mutat. 2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (PubMed id 15342707)1, 2 Reynier P....Bonneau D. (J. Med. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. (PubMed id 9097959)1, 3 Nystuen A....Sheffield V.C. (Hum. Mol. Genet. 1997)
    10. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (PubMed id 20350831)1, 9 Huizing M....Anikster Y. (Mol. Genet. Metab. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80207 HGNC: 8142 AceView: OPA3 Ensembl:ENSG00000125741 euGenes: HUgn80207
    ECgene: OPA3 H-InvDB: OPA3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OPA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OPA3[genesymbol]

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