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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OPA1 Gene

protein-coding   GIFtS: 62
GCID: GC03P193311

Optic Atrophy 1 (Autosomal Dominant)

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Optic Atrophy 1 (Autosomal Dominant)1 2     mitochondrial1
Dynamin-Like Guanosine Triphosphatase1 2     MGM12
Mitochondrial Dynamin-Like GTPase1 2     Dynamin-Like 120 KDa Protein, Mitochondrial2
Optic Atrophy Protein 12 3     largeG2
NPG2 5     EC 3.6.5.53
NTG2 5     KIAA05673
Dynamin-Like 120 KDa Protein1     

External Ids:    HGNC: 81401   Entrez Gene: 49762   Ensembl: ENSG000001988367   OMIM: 6052905   UniProtKB: O603133   

Export aliases for OPA1 gene to outside databases

Previous GC identifers: GC03P190374 GC03P194572 GC03P194713 GC03P194632 GC03P194793 GC03P190698


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OPA1 Gene:
This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a
component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1,
which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many
cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Mar 2009)

GeneCards Summary for OPA1 Gene: 
OPA1 (optic atrophy 1 (autosomal dominant)) is a protein-coding gene. Diseases associated with OPA1 include optic atrophy, and optic atrophy type 1. GO annotations related to this gene include magnesium ion binding and GTP binding.

UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313
Function: Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a
diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic
apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C
(CYCS) into the mitochondrial intermembrane space
Function: Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1
following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation
of mitochondrial fusion

Gene Wiki entry for OPA1 (Optic atrophy 1) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OPA1 gene promoter:
         p53   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OPA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPA1


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

Entrez Gene cytogenetic band: 3q28-q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q28-q29

OPA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPA1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P193311:  view genomic region     (about GC identifiers)

Start:
193,310,933 bp from pter      End:
193,415,612 bp from pter
Size:
104,680 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313 (See protein sequence)
Recommended Name: Dynamin-like 120 kDa protein, mitochondrial precursor  
Size: 960 amino acids; 111631 Da
Subunit: Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with CHCHD3 and
IMMT; these interactions occur preferentially with soluble OPA1 forms. Binds PARL (By similarity)
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane
space
Sequence caution: Sequence=AF416919; Type=Miscellaneous discrepancy;
Secondary accessions: D3DNW4
Alternative splicing: 2 isoforms:  O60313-1   O60313-2   (Proteolytic processing near Gln-220 produces form S2)

Explore the universe of human proteins at neXtProt for OPA1: NX_O60313

Explore proteomics data for OPA1 at MOPED 

Post-translational modifications:

  • UniProtKB: PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial
    fusion. Cleaved by OMA1 at position S1 following stress conditions
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60313

  • OPA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OPA1 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_056375.2  NP_570844.1  NP_570845.1  NP_570846.1  NP_570847.2  NP_570848.1  NP_570849.2  NP_570850.2  

    ENSEMBL proteins: 
     ENSP00000354681   ENSP00000376233   ENSP00000376232   ENSP00000399877   ENSP00000376231  
     ENSP00000409084   ENSP00000398358   ENSP00000411699   ENSP00000355324   ENSP00000355311  
     ENSP00000354429   ENSP00000354781  

    Human Recombinant Protein Products for OPA1: 
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    Novus Biologicals OPA1 Proteins
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for OPA1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA17545159
    GO:0005741mitochondrial outer membrane IDA12504110
    GO:0005743mitochondrial inner membrane NAS--
    GO:0005758mitochondrial intermembrane space ISS11847212
    GO:0016021integral to membrane IEA--

    OPA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR022812 Dynamin
     IPR001401 Dynamin_GTPase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry O60313

    ProtoNet protein and cluster: O60313

    UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313
    Similarity: Belongs to the dynamin family


    OPA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OPA1_HUMAN, O60313
    Function: Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a
    diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic
    apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C
    (CYCS) into the mitochondrial intermembrane space
    Function: Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1
    following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation
    of mitochondrial fusion
    Catalytic activity: GTP + H(2)O = GDP + phosphate

         Enzyme Number (IUBMB): EC 3.6.5.51

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding NAS11017080
    GO:0003924GTPase activity TAS11017080
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    OPA1 for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Opa1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  reproductive system  vision/eye 

    OPA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OPA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OPA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OPA1 
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    SwitchGear 3'UTR luciferase reporter plasmidOPA1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OPA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/23 Interacting proteins for OPA1 (O603131, 2, 3 ENSP000003546814) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BNIP3Q129831, 2, 3, ENSP000003576254EBI-1054131,EBI-749464 MINT-7906796 MINT-7906842 MINT-7906858 MINT-7906831 MINT-7906869 MINT-7906910 MINT-7906811 MINT-7906883 I2D: score=1 STRING: ENSP00000357625
    MYCP011063, ENSP000003672074I2D: score=2 STRING: ENSP00000367207
    CSF1P096033, ENSP000003275134I2D: score=1 STRING: ENSP00000327513
    PTP4A3O753653, ENSP000003322744I2D: score=1 STRING: ENSP00000332274
    MMEP084733I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission TAS12509422
    GO:0001843neural tube closure IEA--
    GO:0006184GTP catabolic process TAS11017080
    GO:0006915apoptotic process IEA--
    GO:0007005mitochondrion organization NAS11017080

    OPA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    OPA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OPA1

    1 Novoseek inferred chemical compound relationship for OPA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 28 11 17826766 (3), 19703650 (2), 19546216 (1), 20038678 (1)

    Search CenterWatch for drugs/clinical trials and news about OPA1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OPA1 gene (8 alternative transcripts): 
    NM_015560.2  NM_130831.2  NM_130832.2  NM_130833.2  NM_130834.2  NM_130835.2  NM_130836.2  NM_130837.2  

    Unigene Cluster for OPA1:

    Optic atrophy 1 (autosomal dominant)
    Hs.594504  [show with all ESTs]
    Unigene Representative Sequence: NM_130837
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000361908(uc003fti.3 uc003ftk.3) ENST00000392438(uc003ftm.3 uc003ftn.3)
    ENST00000392437 ENST00000419435 ENST00000392436 ENST00000487986 ENST00000434811
    ENST00000497189 ENST00000495476 ENST00000475899 ENST00000483516 ENST00000482865
    ENST00000445863 ENST00000429164 ENST00000495261 ENST00000361510(uc003ftg.3)
    ENST00000361715(uc003fth.3) ENST00000361828(uc003ftj.3 uc003ftl.3)


    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate OPA1 (see all 28):
    hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-539 hsa-miR-300 hsa-miR-513a-5p hsa-miR-128 hsa-miR-515-5p hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidOPA1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB011139.1 AK022107.1 AK022522.1 BC035393.1 BC043443.2 BC058013.1 BC075805.1 

    15 DOTS entries:

    DT.91766321  DT.100027663  DT.456267  DT.91766342  DT.91853595  DT.91766332  DT.95274973  DT.100734725 
    DT.100777187  DT.40128729  DT.100777184  DT.120925085  DT.120925098  DT.91766331  DT.95322132 

    24/282 AceView cDNA sequences (see all 282):

    AA176324 AI268768 AA890141 N48461 CR612060 BM762762 BU686872 AA629959 
    CN480590 AA996200 BF439570 BM553710 AW272349 BU620029 AI076560 CK000398 
    AA978176 AA485256 BQ774938 AA352640 BU632179 AA476505 AU185998 D61509 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for OPA1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^
    SP1:                          -                       -                                                                                               -         
    SP2:                          -                                                                                                                                 
    SP3:                                                                                                                                                            
    SP4:                          -                 -     -                                                                                                         
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
    SP1:                                                  -                     
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for OPA1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OPA1 expression in normal human tissues (normalized intensities)      OPA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTATATGTT
    OPA1 Expression
    About this image


    OPA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             orbitofrontal cortex   
     
     Eye (Sensory Organs)
             Retina
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius   
     
     Heart (Cardiovascular System)

    See OPA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OPA1

    SOURCE GeneReport for Unigene cluster: Hs.594504

    UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313
    Tissue specificity: Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle.
    Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal
    brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms
    expressed in a variety of tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including OPA1: 
              Parkinson's Disease in human mouse rat
              Mitochondria in human mouse rat
              Apoptosis 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA1

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for OPA1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Opa11 , 5 optic atrophy 1 homolog (human)5
    optic atrophy 11
    88.35(n)1
    96.1(a)1
      16 (20.65 cM)5
    741431  NM_001199177.11  NP_001186106.11 
     295793345 
    chicken
    (Gallus gallus)
    Aves OPA11 optic atrophy 1 (autosomal dominant) 78.3(n)
    87.32(a)
      424900  NM_001039309.1  NP_001034398.1 
    lizard
    (Anolis carolinensis)
    Reptilia OPA16
    optic atrophy 1 (autosomal dominant)
    88(a)
    1 ↔ 1
    GL343538.1(174171-220189)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480448932   -- 80.31(n)    48044893 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049501.12   -- 78.81(n)    BC049501.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84793
    opa1-like1
    GTP binding3
    optic atrophy 1-like1
    54(a)3
    56.19(n)1
    55.97(a)1
      50E43
    365781  NM_166040.11  NP_725369.11 
    worm
    (Caenorhabditis elegans)
    Secernentea D2013.53
    eat-31
    GTP-binding protein3
    Protein EAT-31
    56(a)3
    56.03(n)1
    53.73(a)1
      II(9324799-9329237)3
    1744761  NM_063585.61  NP_495986.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MGM16
    Mitochondrial GTPase, present in complex with Ugo1...
    21(a)
    1 ↔ 1
    XV(738924-741569)


    ENSEMBL Gene Tree for OPA1 (if available)
    TreeFam Gene Tree for OPA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OPA1 gene
    2 SIMAP similar genes for OPA1 using alignment to 14 protein entries:     OPA1_HUMAN (see all proteins):
    OK/SW-cl.18    DNM1L

    OPA1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2492 SNPs in OPA1 are shown (see all 2492)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0608274
    Optic atrophy 1 (OPA1)4--see VAR_0608272 T M mis40--------
    VAR_0608474
    Optic atrophy 1 (OPA1)4--see VAR_0608472 E K mis40--------
    VAR_0608424
    Optic atrophy 1 (OPA1)4--see VAR_0608422 D V mis40--------
    VAR_0283704
    Optic atrophy 1 (OPA1)4--see VAR_0283702 L P mis40--------
    VAR_0608694
    Optic atrophy 1 (OPA1)4--see VAR_0608692 L P mis40--------
    VAR_0229284
    Optic atrophy 1 (OPA1)4--see VAR_0229282 T K mis40--------
    VAR_0608654
    Optic atrophy 1 (OPA1)4--see VAR_0608652 R L mis40--------
    VAR_0608464
    Optic atrophy 1 (OPA1)4--see VAR_0608462 D G mis40--------
    VAR_0608384
    Optic atrophy 1 (OPA1)4--see VAR_0608382 L F mis40--------
    VAR_0608644
    Optic atrophy 1 (OPA1)4--see VAR_0608642 Y C mis40--------

    HapMap Linkage Disequilibrium report for OPA1 (193310933 - 193415612 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for OPA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2449864CNV Insertion19546169
    esv273412CNV Insertion20981092
    esv268105CNV Insertion20981092
    nsv10376CNV Loss18304495
    dgv1547e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): OPA1

    Locus Specific Mutation Databases (LSDB): OPA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing OPA1
    DNA2.0 Custom Variant and Variant Library Synthesis for OPA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605290   
    OMIM disorders: 165500  606657  125250  
    UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313
  • Optic atrophy 1 (OPA1) [MIM:165500]: 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. OPA1 is characterized
    by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity,
    temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]: A neurologic disorder characterized most
    commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable
    presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps,
    hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/38 diseases for OPA1 (see all 38):    About MalaCards
    optic atrophy    optic atrophy type 1    optic atrophy 1 and deafness    behr syndrome
    fg syndrome type 1    med12-related disorders    lujan syndrome    blue color blindness
    low tension glaucoma    autosomal dominant progressive external ophthalmoplegia    primary angle-closure glaucoma    color blindness
    blindness    leber hereditary optic neuropathy    ophthalmoplegia    optic neuritis
    neuromyelitis optica    neuropathy    neuritis    glaucoma

    3 diseases from the University of Copenhagen DISEASES database for OPA1:
    Optic atrophy     Leber hereditary optic neuropathy     Blue color blindness

    OPA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/13 Novoseek inferred disease relationships for OPA1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    optic atrophy autosomal dominant 98.8 69 14644237 (3), 14961560 (2), 17318099 (2), 11440988 (2) (see all 50)
    optic atrophy 87.1 40 12842213 (3), 15531309 (3), 16735988 (3), 16513463 (3) (see all 18)
    optic neuropathy 86.5 10 19325939 (2), 11017079 (1), 20157369 (1), 18158317 (1) (see all 8)
    lebers hereditary optic neuropathy 86.2 3 20069065 (1), 19325939 (1), 19915464 (1)
    charcot-marie-tooth disease 58 3 16781135 (1), 19584314 (1), 16244327 (1)
    mitochondrial diseases 50.4 1 11855928 (1)
    glaucoma 49.9 13 19581274 (2), 17188046 (2), 15534475 (2), 14551537 (2) (see all 8)
    glaucoma open-angle 35.3 3 16785854 (2), 17188046 (1)
    blindness 34.5 5 11017079 (1), 16617242 (1), 14970223 (1), 11810270 (1) (see all 5)
    neurodegenerative diseases 16.9 1 19389487 (1), 20038678 (1), 19584314 (1)

    GeneTests: OPA1
    GeneReviews: OPA1
    Genetic Association Database (GAD): OPA1
    Human Genome Epidemiology (HuGE) Navigator: OPA1 (27 documents)

    Export disorders for OPA1 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)
    About This Section

    PubMed articles for OPA1 gene, integrated from 9 sources (see all 203):
    (articles sorted by number of sources associating them with OPA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. (PubMed id 19319978)1, 2, 4 Ferre M....Amati-Bonneau P. (2009)
    2. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. (PubMed id 16513463)1, 2, 9 Nakamura M.... Terasaki H. (2006)
    3. Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. (PubMed id 19325939)1, 2, 9 Nochez Y.... Reynier P. (2009)
    4. Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families. (PubMed id 16785854)1, 4, 9 Yao W....Nemesure B. (2006)
    5. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. (PubMed id 15531309)1, 2, 9 Payne M....Zhang K. (2004)
    6. Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea. (PubMed id 15534475)1, 4, 9 Woo S.J....Yoo T. (2004)
    7. OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484. (PubMed id 12842213)1, 4, 9 Yamada T....Kanai A. (2003)
    8. Polymorphisms in OPA1 are associated with normal tension glaucoma. (PubMed id 14551537)1, 4, 9 Powell B.L....Churchill A.J. (2003)
    9. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. (PubMed id 11017080)1, 2, 9 Alexander C.... Wissinger B. (2000)
    10. OPA1 increases the risk of normal but not high tensio n glaucoma. (PubMed id 19581274)1, 4, 9 Yu-Wai-Man P....Chinnery P.F. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4976 HGNC: 8140 AceView: OPA1 Ensembl:ENSG00000198836 euGenes: HUgn4976
    ECgene: OPA1 H-InvDB: OPA1

    (According to HUGE)
    About This Section
    HUGE: KIAA0567

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OPA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OPA1 gene:
    Search GeneIP for patents involving OPA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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