Human Gene OPA3 (ENST00000263275.5_13) from GENCODE V47lift37
  Description: outer mitochondrial membrane lipid metabolism regulator OPA3, transcript variant 2 (from RefSeq NM_025136.4)
Gencode Transcript: ENST00000263275.5_13
Gencode Gene: ENSG00000125741.6_14
Transcript (Including UTRs)
   Position: hg19 chr19:46,049,539-46,088,060 Size: 38,522 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr19:46,056,772-46,088,022 Size: 31,251 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:46,049,539-46,088,060)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OPA3_HUMAN
DESCRIPTION: RecName: Full=Optic atrophy 3 protein;
FUNCTION: May play some role in mitochondrial processes.
SUBCELLULAR LOCATION: Mitochondrion (Probable).
TISSUE SPECIFICITY: Ubiquitous. Most prominent expression in skeletal muscle and kidney.
DISEASE: Defects in OPA3 are the cause of 3-methylglutaconic aciduria type 3 (MGA3) [MIM:258501]; also known as optic atrophy plus syndrome or Costeff optic atrophy syndrome. MGA3 is an autosomal recessive 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.
DISEASE: Defects in OPA3 are the cause of optic atrophy type 3 (OPA3) [MIM:165300]; also known as autosomal dominant optic atrophy and cataract (ADOAC) or cataract, optic atrophy and neurologic disorder. Hereditary optic atrophy form a heterogeneous group of disorders. The autosomal dominant forms are 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.
SIMILARITY: Belongs to the OPA3 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPA3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: OPA3
Diseases sorted by gene-association score: optic atrophy 3 with cataract* (1650), 3-methylglutaconic aciduria, type iii* (1389), 3-methylglutaconic aciduria (22), optic atrophy plus syndrome (21), marinesco-sjogren syndrome (10), behr syndrome (10), 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (8), 3-methylglutaconic aciduria, type v (7), leigh-like syndrome (7), 3-methylglutaconic aciduria, type iv (6), 3-methylglutaconic aciduria, type i (6), cranial nerve disease (5), optic nerve disease (4), leber optic atrophy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.17 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 110.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.8038-0.205 Picture PostScript Text
3' UTR -2887.107233-0.399 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010754 - OPA3-like

Pfam Domains:
PF07047 - Optic atrophy 3 protein (OPA3)

ModBase Predicted Comparative 3D Structure on Q9H6K4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007601 visual perception
GO:0019216 regulation of lipid metabolic process
GO:0040007 growth
GO:0050896 response to stimulus
GO:0050905 neuromuscular process
GO:0070584 mitochondrion morphogenesis

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  AK098798 - Homo sapiens cDNA FLJ25932 fis, clone CBR05617.
BC064146 - Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), mRNA (cDNA clone MGC:75494 IMAGE:30378779), complete cds.
BC047316 - Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), mRNA (cDNA clone MGC:54355 IMAGE:5206005), complete cds.
LF384222 - JP 2014500723-A/191725: Polycomb-Associated Non-Coding RNAs.
EU832556 - Synthetic construct Homo sapiens clone HAIB:100067585; DKFZo004D0530 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) protein (OPA3) gene, encodes complete protein.
JD118445 - Sequence 99469 from Patent EP1572962.
JD319360 - Sequence 300384 from Patent EP1572962.
JD500523 - Sequence 481547 from Patent EP1572962.
JD340840 - Sequence 321864 from Patent EP1572962.
JD177584 - Sequence 158608 from Patent EP1572962.
JD472712 - Sequence 453736 from Patent EP1572962.
JD257073 - Sequence 238097 from Patent EP1572962.
JD455061 - Sequence 436085 from Patent EP1572962.
JD221877 - Sequence 202901 from Patent EP1572962.
JD546275 - Sequence 527299 from Patent EP1572962.
JD194649 - Sequence 175673 from Patent EP1572962.
JD537302 - Sequence 518326 from Patent EP1572962.
JD411940 - Sequence 392964 from Patent EP1572962.
JD105364 - Sequence 86388 from Patent EP1572962.
JD284120 - Sequence 265144 from Patent EP1572962.
JD319339 - Sequence 300363 from Patent EP1572962.
JD378066 - Sequence 359090 from Patent EP1572962.
JD249607 - Sequence 230631 from Patent EP1572962.
JD085134 - Sequence 66158 from Patent EP1572962.
JD447703 - Sequence 428727 from Patent EP1572962.
JD332029 - Sequence 313053 from Patent EP1572962.
JD308833 - Sequence 289857 from Patent EP1572962.
JD096374 - Sequence 77398 from Patent EP1572962.
JD047484 - Sequence 28508 from Patent EP1572962.
JD238033 - Sequence 219057 from Patent EP1572962.
JD482993 - Sequence 464017 from Patent EP1572962.
JD135689 - Sequence 116713 from Patent EP1572962.
JD452137 - Sequence 433161 from Patent EP1572962.
JD247065 - Sequence 228089 from Patent EP1572962.
JD254680 - Sequence 235704 from Patent EP1572962.
JD341822 - Sequence 322846 from Patent EP1572962.
JD293231 - Sequence 274255 from Patent EP1572962.
JD213214 - Sequence 194238 from Patent EP1572962.
LF366964 - JP 2014500723-A/174467: Polycomb-Associated Non-Coding RNAs.
LF366963 - JP 2014500723-A/174466: Polycomb-Associated Non-Coding RNAs.
LF366962 - JP 2014500723-A/174465: Polycomb-Associated Non-Coding RNAs.
JD327201 - Sequence 308225 from Patent EP1572962.
JD106658 - Sequence 87682 from Patent EP1572962.
JD530033 - Sequence 511057 from Patent EP1572962.
JD557615 - Sequence 538639 from Patent EP1572962.
JD430595 - Sequence 411619 from Patent EP1572962.
JD438942 - Sequence 419966 from Patent EP1572962.
JD264194 - Sequence 245218 from Patent EP1572962.
JD420243 - Sequence 401267 from Patent EP1572962.
JD105356 - Sequence 86380 from Patent EP1572962.
JD383843 - Sequence 364867 from Patent EP1572962.
JD420242 - Sequence 401266 from Patent EP1572962.
JD319323 - Sequence 300347 from Patent EP1572962.
BC005059 - Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), mRNA (cDNA clone MGC:12948 IMAGE:2957964), complete cds.
AK025840 - Homo sapiens cDNA: FLJ22187 fis, clone HRC01029.
JD219953 - Sequence 200977 from Patent EP1572962.
JD517151 - Sequence 498175 from Patent EP1572962.
JD244635 - Sequence 225659 from Patent EP1572962.
JD517149 - Sequence 498173 from Patent EP1572962.
JD318938 - Sequence 299962 from Patent EP1572962.
JD149213 - Sequence 130237 from Patent EP1572962.
JD208912 - Sequence 189936 from Patent EP1572962.
JD294283 - Sequence 275307 from Patent EP1572962.
JD401928 - Sequence 382952 from Patent EP1572962.
JD145909 - Sequence 126933 from Patent EP1572962.
JD130658 - Sequence 111682 from Patent EP1572962.
JD365220 - Sequence 346244 from Patent EP1572962.
JD473729 - Sequence 454753 from Patent EP1572962.
JD274789 - Sequence 255813 from Patent EP1572962.
JD449766 - Sequence 430790 from Patent EP1572962.
JD096519 - Sequence 77543 from Patent EP1572962.
JD177515 - Sequence 158539 from Patent EP1572962.
JD447306 - Sequence 428330 from Patent EP1572962.
JD529296 - Sequence 510320 from Patent EP1572962.
JD430255 - Sequence 411279 from Patent EP1572962.
JD559685 - Sequence 540709 from Patent EP1572962.
JD092522 - Sequence 73546 from Patent EP1572962.
JD144701 - Sequence 125725 from Patent EP1572962.
JD283418 - Sequence 264442 from Patent EP1572962.
AK296429 - Homo sapiens cDNA FLJ57883 complete cds, highly similar to Optic atrophy 3 protein.
JD247007 - Sequence 228031 from Patent EP1572962.
JD413438 - Sequence 394462 from Patent EP1572962.
JD198133 - Sequence 179157 from Patent EP1572962.
JD525458 - Sequence 506482 from Patent EP1572962.
JD375967 - Sequence 356991 from Patent EP1572962.
JD491047 - Sequence 472071 from Patent EP1572962.
JD521146 - Sequence 502170 from Patent EP1572962.
JD349098 - Sequence 330122 from Patent EP1572962.
JD337053 - Sequence 318077 from Patent EP1572962.
JD368018 - Sequence 349042 from Patent EP1572962.
JD381677 - Sequence 362701 from Patent EP1572962.
JD199753 - Sequence 180777 from Patent EP1572962.
JD348930 - Sequence 329954 from Patent EP1572962.
KJ899619 - Synthetic construct Homo sapiens clone ccsbBroadEn_09013 OPA3 gene, encodes complete protein.
KR710068 - Synthetic construct Homo sapiens clone CCSBHm_00009294 OPA3 (OPA3) mRNA, encodes complete protein.
KR710069 - Synthetic construct Homo sapiens clone CCSBHm_00009295 OPA3 (OPA3) mRNA, encodes complete protein.
AB528200 - Synthetic construct DNA, clone: pF1KE0142, Homo sapiens OPA3 gene for optic atrophy 3, without stop codon, in Flexi system.
AM392686 - Synthetic construct Homo sapiens clone IMAGE:100002090 for hypothetical protein (OPA3 gene).
JD109350 - Sequence 90374 from Patent EP1572962.
MA619799 - JP 2018138019-A/191725: Polycomb-Associated Non-Coding RNAs.
MA602541 - JP 2018138019-A/174467: Polycomb-Associated Non-Coding RNAs.
MA602540 - JP 2018138019-A/174466: Polycomb-Associated Non-Coding RNAs.
MA602539 - JP 2018138019-A/174465: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000263275.1, ENST00000263275.2, ENST00000263275.3, ENST00000263275.4, NM_025136, OPA3_HUMAN, Q6P384, Q8N784, Q9H6K4, uc317hif.1, uc317hif.2
UCSC ID: ENST00000263275.5_13
RefSeq Accession: NM_025136.4
Protein: Q9H6K4 (aka OPA3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene OPA3:
mga3 (Costeff Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.