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Symbol report for OPTN

HGNC data for OPTN

Approved symbol
OPTN
Approved name

optineurin

Locus type
gene with protein product
HGNC ID
HGNC:17142
Symbol status
Approved
Previous symbols
GLC1E
Previous names
glaucoma 1, open angle, E (adult-onset)
Alias symbols
FIP2
HYPL
FIP-2
TFIIIA-INTP
NRP
HIP7
Chromosomal location
10p13
Gene resources for OPTN
Ensembl
ENSG00000123240 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
10133 Curated
UCSC
uc001ilx.2
Alliance of Genome Resources
HGNC:17142
Nucleotide resources for OPTN
MANE Select
NM_001008212.2
ENST00000378747.8
INSDC
AF420371 Curated
ENAGenBankDDBJ
RefSeq
NM_021980 Curated
NCBI sequence viewer
CCDS
CCDS7094 Curated
Protein resources for OPTN
UniProt/Swiss-Prot
Q96CV9
InterProPDBeReactome
AlphaFold
AF-Q96CV9-F1
Orthologs from selected species for OPTN
Bos taurus
OPTN VGNC:32442 VGNC
Canis familiaris
OPTN VGNC:44136 VGNC
Equus caballus
OPTN VGNC:21047 VGNC
Felis catus
OPTN VGNC:63970 VGNC
Macaca mulatta
OPTN VGNC:75415 VGNC
Mus musculus
Optn MGI:1918898 Curated
Pan troglodytes
OPTN VGNC:4972 VGNC
Rattus norvegicus
Optn RGD:628886
Sus scrofa
OPTN VGNC:95832 VGNC
Clinical resources for OPTN
OMIM
602432
LSDB
ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database Curated
GenCC
HGNC:17142
MedlinePlus
Search via OPTN
DECIPHER
Search via OPTN
ClinGen
Search via HGNC:17142
Genetic Testing Registry
Search via NCBI Gene ID 10133
ClinVar
Search via NCBI Gene ID 10133
dbVar
Search via NCBI Gene ID 10133
Orphanet
124021
Other resources for OPTN
AmiGO
Search via Q96CV9
QuickGO
Search via Q96CV9
BioGPS
Search via NCBI Gene ID 10133
GeneCards
Search via HGNC:17142
Monarch
Search via HGNC:17142
WikiGenes
Search via NCBI Gene ID 10133
References for OPTN