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Gene: OPTN (optineurin) Homo sapiens
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Symbol: OPTN
Name: optineurin
CRRD ID: 736202
Description: Exhibits several functions, including Rab GTPase binding activity; identical protein binding activity; and protein C-terminus binding activity. Involved in several processes, including Golgi to plasma membrane protein transport; negative regulation of receptor recycling; and positive regulation of macroautophagy. Localizes to cytosol and trans-Golgi network. Implicated in Paget's disease of bone; amyotrophic lateral sclerosis (multiple); and glaucoma (multiple). Biomarker of Huntington's disease; amyotrophic lateral sclerosis; and progressive myoclonus epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS12; E3-14.7K-interacting protein; FIP-2; FIP2; GLC1E; HIP-7; HIP7; Huntingtin interacting protein L; huntingtin yeast partner L; huntingtin-interacting protein 7; huntingtin-interacting protein L; HYPL; nemo-related protein; NRP; optic neuropathy-inducing protein; TFIIIA-INTP; transcription factor IIIA-interacting protein; transcrption factor IIIA-interacting protein; tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains
Orthologs:
Mus musculus (house mouse) : Optn (optineurin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Optn (optineurin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Optn (optineurin)
Pan paniscus (bonobo/pygmy chimpanzee) : OPTN (optineurin)
Canis lupus familiaris (dog) : OPTN (optineurin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101956249 (optineurin)
Sus scrofa (pig) : OPTN (optineurin)
Chlorocebus sabaeus (African green monkey) : OPTN (optineurin)
Heterocephalus glaber (naked mole-rat) : Optn (optineurin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1013,099,449 - 13,138,308 (+)EnsemblGRCh38hg38GRCh38
GRCh381013,100,082 - 13,138,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371013,141,425 - 13,180,291 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361013,182,088 - 13,220,282 (+)NCBINCBI36hg18NCBI36
Build 341013,182,087 - 13,220,282NCBI
Celera1013,068,965 - 13,107,102 (+)NCBI
Cytogenetic Map10p13NCBI
HuRef1013,055,075 - 13,092,916 (+)NCBIHuRef
CHM1_11013,142,092 - 13,180,464 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on OPTN
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736202
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.