Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | OPA3 | contributors: mct/npt/shn - updated : 03-05-2011 |
HGNC name | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
HGNC id | 8142 |
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Corresponding disease |
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Location | 19q13.32 Physical location : 46.031.026 - 46.088.122 | ||
Synonym name | optic atrophy 3 protein | ||
Synonym symbol(s) | MGA3, FLJ22187, FLJ25932, MGC75494 |
DNA |
TYPE | functioning gene |
STRUCTURE | 57.10 kb 3 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | provisional |
Map | cen - D19S908 - D19S219 - OPA3 OPA3 - D19S412 - D19S606 - qter |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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(Huizing 2010) |
secondary structure | alpha helix, extended strand, beta helix |
HOMOLOGY |
interspecies | ortholog to Opa3, mus musculus |
ortholog to OPA3, Pan troglodytes | |
ortholog to opa3, danio rerio | |
ortholog to Opa3, Rattus norvegicus |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling | sensory transduction/vision |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | OPA3 |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
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