OPTN (Q18035056)

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protein-coding gene in the species Homo sapiens

ALS12
FIP2
GLC1E
HIP7
HYPL
NRP
TFIIIA-INTP
optineurin

Language	Label	Description	Also known as
English	OPTN	protein-coding gene in the species Homo sapiens	ALS12 FIP2 GLC1E HIP7 HYPL NRP TFIIIA-INTP optineurin

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000123240

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

1 reference

6 July 2017

UniProt protein ID

genetic association

mammary Paget's disease

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_3443&ncbiId=10133

http://www.genome.gov/gwastudies/index.cfm?gene=OPTN

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

25 May 2020

amyotrophic lateral sclerosis type 12

1 reference

UniProt protein ID

13 August 2019

familial amyotrophic lateral sclerosis

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000123240/EFO_0001356

based on heuristic

inferred from an Open Targets association score over 0.7

open-angle glaucoma

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000123240/EFO_0004190

based on heuristic

inferred from an Open Targets association score over 0.7

amyotrophic lateral sclerosis

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000123240/MONDO_0004976

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 10

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

13099449

human chromosome 10

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

13141449

human chromosome 10

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

13138308

human chromosome 10

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

13180291

human chromosome 10

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

cytogenetic location

10p13

1 reference

15 May 2022

11085

1 reference

15 May 2022

Gene Atlas image

PBB GE OPTN 202074 s at fs.png
732 × 530; 12 KB

0 references

PBB GE OPTN 202073 at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

11085

1 reference

HomoloGene build68

11085

1 reference

HomoloGene build68

11085

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

gastrocnemius muscle

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

triceps brachii muscle

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

vastus lateralis muscle

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

thoracic diaphragm

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

Achilles tendon

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

tibialis anterior muscle

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000123240

http://identifiers.org/ncbigene/10133

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000123240

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

Ensembl transcript ID

ENST00000487935

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000263036

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000378747

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000378748

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000378752

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000378757

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000378764

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000424614

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000430081

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000469025

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000482140

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

ENST00000486862

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000123240

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(5 entries)

cawiki Optineurina
enwiki Optineurin
fawiki آپتینورین
ttwiki OPTN
ukwiki OPTN

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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