OPTN - optineurin Gene

Also Known as NRP; FIP2; HIP7; HYPL; ALS12; GLC1E; TFIIIA-INTP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10133

About OPTN

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:13,100,082-13,138,308 (from NCBI)

This gene has 12 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 52.0), adrenal (RPKM 41.0) and 25 other tissues.

Summary

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate Apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, Huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

OPTN Products (4)

mRNA Protein Name
NM_001008211.1 NP_001008212.1 optineurin
NM_001008212.2 NP_001008213.1 optineurin
NM_001008213.1 NP_001008214.1 optineurin
NM_021980.4 NP_068815.2 optineurin
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
23414517 GOA
enables polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
21617041 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15837803 GOA
enables protein-macromolecule adaptor activity IPI
IPI: Inferred from physical interaction
25803835 GOA
Biological Process GO Annotation Evidence References Source
involved in Golgi organization IMP
IMP: Inferred from mutant phenotype
15837803 GOA
involved in Golgi ribbon formation IDA
IDA: Inferred from direct assay
15837803 GOA
involved in Golgi ribbon formation IMP
IMP: Inferred from mutant phenotype
27534431 GOA
involved in Golgi to plasma membrane protein transport IMP
IMP: Inferred from mutant phenotype
15837803 GOA
involved in cellular response to unfolded protein IMP
IMP: Inferred from mutant phenotype
27534431 GOA
involved in defense response to Gram-negative bacterium IMP
IMP: Inferred from mutant phenotype
21617041 GOA
involved in negative regulation of receptor recycling IMP
IMP: Inferred from mutant phenotype
22854040 GOA
involved in positive regulation of autophagy IDA
IDA: Inferred from direct assay
21617041 GOA
involved in positive regulation of xenophagy IMP
IMP: Inferred from mutant phenotype
21617041 GOA
involved in protein localization to Golgi apparatus IMP
IMP: Inferred from mutant phenotype
15837803 GOA
involved in type 2 mitophagy IMP
IMP: Inferred from mutant phenotype
25294927 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
15837803 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
20174559 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OPTN Protein Structure

NEMO

NEMO: NF-kappa-B essential modulator NEMO (38 - 104)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 577 a.a.
Protein Preferred Names Protein Names

optineurin

  • E3-14.7K-interacting protein

OPTN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
OPTN Q96CV9 WDFY3 Homo sapiens Q8IZQ1-2 32814053
Intra
OPTN Q96CV9 WDFY3 Homo sapiens Q8IZQ1-2 32814053
Intra
OPTN Q96CV9 WDFY3 Homo sapiens Q8IZQ1-2 32814053
Intra
OPTN Q96CV9 RNF220 Homo sapiens Q9BWG1 32814053
Intra
OPTN Q96CV9 RNF220 Homo sapiens Q9BWG1 32814053
Intra
OPTN Q96CV9 RNF220 Homo sapiens Q9BWG1 32814053
Intra
OPTN Q96CV9 AP3B1 Homo sapiens O00203 32814053
Intra
OPTN Q96CV9 AP3B1 Homo sapiens O00203 32814053
Intra
OPTN Q96CV9 AP3B1 Homo sapiens O00203 32814053
Intra
OPTN Q96CV9 TBC1D15 Homo sapiens Q8TC07 25416956
Intra
OPTN Q96CV9 TBC1D15 Homo sapiens Q8TC07 25416956
Intra
OPTN Q96CV9 CEP250 Homo sapiens Q9BV73 32814053
Intra
OPTN Q96CV9 CEP250 Homo sapiens Q9BV73 32814053
Intra
OPTN Q96CV9 CEP250 Homo sapiens Q9BV73 32814053
Intra
OPTN Q96CV9 CCDC13 Homo sapiens Q8IYE1 32296183
Intra
OPTN Q96CV9 CCDC13 Homo sapiens Q8IYE1 32296183
Intra
OPTN Q96CV9 ZMYM4 Homo sapiens Q5VZL5-4 32814053
Intra
OPTN Q96CV9 ZMYM4 Homo sapiens Q5VZL5-4 32814053
Intra
OPTN Q96CV9 ZMYM4 Homo sapiens Q5VZL5-4 32814053
Intra
OPTN Q96CV9 MECP2 Homo sapiens P51608 32814053
Intra
OPTN Q96CV9 MECP2 Homo sapiens P51608 32814053
Intra
OPTN Q96CV9 MECP2 Homo sapiens P51608 32814053
Intra
OPTN Q96CV9 ZNF444 Homo sapiens Q8N0Y2-2 32814053
Intra
OPTN Q96CV9 ZNF444 Homo sapiens Q8N0Y2-2 32814053
Intra
OPTN Q96CV9 ZNF444 Homo sapiens Q8N0Y2-2 32814053
Intra
OPTN Q96CV9 POU6F2 Homo sapiens P78424 32296183
Intra
OPTN Q96CV9 POU6F2 Homo sapiens P78424 32296183
Intra
OPTN Q96CV9 JADE1 Homo sapiens Q6IE81-3 32814053
Intra
OPTN Q96CV9 JADE1 Homo sapiens Q6IE81-3 32814053
Intra
OPTN Q96CV9 JADE1 Homo sapiens Q6IE81-3 32814053
Intra
OPTN Q96CV9 P3H3 Homo sapiens Q8IVL6-2 32814053
Intra
OPTN Q96CV9 P3H3 Homo sapiens Q8IVL6-2 32814053
Intra
OPTN Q96CV9 P3H3 Homo sapiens Q8IVL6-2 32814053
Intra
OPTN Q96CV9 MYEOV Homo sapiens Q96EZ4 32814053
Intra
OPTN Q96CV9 MYEOV Homo sapiens Q96EZ4 32814053
Intra
OPTN Q96CV9 MYEOV Homo sapiens Q96EZ4 32814053
Intra
OPTN Q96CV9 AIMP1 Homo sapiens Q12904-2 32296183
Intra
OPTN Q96CV9 AIMP1 Homo sapiens Q12904-2 32296183
Intra
OPTN Q96CV9 KIAA0825 Homo sapiens Q8IV33 32814053
Intra
OPTN Q96CV9 KIAA0825 Homo sapiens Q8IV33 32814053
Intra
OPTN Q96CV9 KIAA0825 Homo sapiens Q8IV33 32814053
Intra
OPTN Q96CV9 ZYG11B Homo sapiens Q9C0D3 32814053
Intra
OPTN Q96CV9 ZYG11B Homo sapiens Q9C0D3 32814053
Intra
OPTN Q96CV9 ZYG11B Homo sapiens Q9C0D3 32814053
Intra
OPTN Q96CV9 CPN1 Homo sapiens P15169 32814053
Intra
OPTN Q96CV9 CPN1 Homo sapiens P15169 32814053
Intra
OPTN Q96CV9 CPN1 Homo sapiens P15169 32814053
Intra
OPTN Q96CV9 DPP9 Homo sapiens Q86TI2-2 32814053
Intra
OPTN Q96CV9 DPP9 Homo sapiens Q86TI2-2 32814053
Intra
OPTN Q96CV9 DPP9 Homo sapiens Q86TI2-2 32814053
Intra
OPTN Q96CV9 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
OPTN Q96CV9 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
OPTN Q96CV9 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
OPTN Q96CV9 UBE2A Homo sapiens P49459 32814053
Intra
OPTN Q96CV9 UBE2A Homo sapiens P49459 32814053
Intra
OPTN Q96CV9 UBE2A Homo sapiens P49459 32814053
Intra
OPTN Q96CV9 LNX2 Homo sapiens Q8N448 31515488
Intra
OPTN Q96CV9 LNX2 Homo sapiens Q8N448 29892012
Intra
OPTN Q96CV9 ZMYM6 Homo sapiens O95789 33961781
Intra
OPTN Q96CV9 HLA-DPB1 Homo sapiens A0A1C3PI11 32814053
Intra
OPTN Q96CV9 HLA-DPB1 Homo sapiens A0A1C3PI11 32814053
Intra
OPTN Q96CV9 HLA-DPB1 Homo sapiens A0A1C3PI11 32814053
Intra
OPTN Q96CV9 THADA Homo sapiens Q6YHU6 32814053
Intra
OPTN Q96CV9 THADA Homo sapiens Q6YHU6 32814053
Intra
OPTN Q96CV9 THADA Homo sapiens Q6YHU6 32814053
Intra
OPTN Q96CV9 SQSTM1 Homo sapiens Q13501 25026213
Intra
OPTN Q96CV9 SQSTM1 Homo sapiens Q13501 25026213
Intra
OPTN Q96CV9 HACE1 Homo sapiens Q8IYU2 25026213
Intra
OPTN Q96CV9 HACE1 Homo sapiens Q8IYU2 25026213
Intra
OPTN Q96CV9 HACE1 Homo sapiens Q8IYU2
IF
25026213
Intra
OPTN Q96CV9 HACE1 Homo sapiens Q8IYU2
Y2H
25026213
Intra
OPTN Q96CV9 HACE1 Homo sapiens Q8IYU2 25026213
Intra
OPTN Q96CV9 RBM12 Homo sapiens Q9NTZ6 25910212
Intra
OPTN Q96CV9 RBM12 Homo sapiens Q9NTZ6 25910212
Intra
OPTN Q96CV9 RBM12 Homo sapiens Q9NTZ6 32296183
Intra
OPTN Q96CV9 RBM12 Homo sapiens Q9NTZ6 33961781
Intra
OPTN Q96CV9 RBM12 Homo sapiens Q9NTZ6 25910212
Intra
OPTN Q96CV9 RBM12 Homo sapiens Q9NTZ6 32296183
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 25803835
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 18307994
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 21903422
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 18307994
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 34524948
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 25803835
Intra
OPTN Q96CV9 TBK1 Homo sapiens Q9UHD2 27086836
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 26871637
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 32296183
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 26871637
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025
Y2H
21988832
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 25910212
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 31515488
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 25910212
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025
SLC
25910212
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 25910212
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 25416956
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 32296183
Intra
OPTN Q96CV9 TNIP1 Homo sapiens Q15025 26871637
Intra
OPTN Q96CV9 SMARCD1 Homo sapiens Q96GM5 32814053
Intra
OPTN Q96CV9 SMARCD1 Homo sapiens Q96GM5 32814053
Intra
OPTN Q96CV9 SMARCD1 Homo sapiens Q96GM5 32814053
Intra
OPTN Q96CV9 PSMC2 Homo sapiens P35998 32814053
Intra
OPTN Q96CV9 PSMC2 Homo sapiens P35998 32814053
Intra
OPTN Q96CV9 PSMC2 Homo sapiens P35998 32814053
Intra
OPTN Q96CV9 ACSS3 Homo sapiens Q9H6R3 32814053
Intra
OPTN Q96CV9 ACSS3 Homo sapiens Q9H6R3 32814053
Intra
OPTN Q96CV9 ACSS3 Homo sapiens Q9H6R3 32814053
Intra
OPTN Q96CV9 THAP6 Homo sapiens Q8TBB0 32814053
Intra
OPTN Q96CV9 THAP6 Homo sapiens Q8TBB0 32814053
Intra
OPTN Q96CV9 THAP6 Homo sapiens Q8TBB0 32814053
Intra
OPTN Q96CV9 CDC23 Homo sapiens Q9UJX2 25910212
Intra
OPTN Q96CV9 CDC23 Homo sapiens Q9UJX2 25910212
Intra
OPTN Q96CV9 CDC23 Homo sapiens Q9UJX2
SLC
25910212
Intra
OPTN Q96CV9 CDC23 Homo sapiens Q9UJX2 25910212
Intra
OPTN Q96CV9 CDC23 Homo sapiens Q9UJX2
Y2H
21516116
Intra
OPTN Q96CV9 CDC23 Homo sapiens Q9UJX2 25416956
Intra
OPTN Q96CV9 STIM1 Homo sapiens Q13586 32814053
Intra
OPTN Q96CV9 STIM1 Homo sapiens Q13586 32814053
Intra
OPTN Q96CV9 STIM1 Homo sapiens Q13586 32814053
Intra
OPTN Q96CV9 HTT Homo sapiens P42858 23275563
Intra
OPTN Q96CV9 DUS3L Homo sapiens Q96G46 32814053
Intra
OPTN Q96CV9 DUS3L Homo sapiens Q96G46 32814053
Intra
OPTN Q96CV9 DUS3L Homo sapiens Q96G46 32814053
Intra
OPTN Q96CV9 HSF2BP Homo sapiens O75031 32296183
Intra
OPTN Q96CV9 HSF2BP Homo sapiens O75031 32296183
Intra
OPTN Q96CV9 MPP1 Homo sapiens Q00013 21903422
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 31515488
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 26871637
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 25416956
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 25910212
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 26871637
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 25416956
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 25416956
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 25910212
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 26871637
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 25910212
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
OPTN Q96CV9 WASHC3 Homo sapiens Q9Y3C0 16189514
Intra
OPTN Q96CV9 TBC1D17 Homo sapiens Q9HA65 22854040
Intra
OPTN Q96CV9 TBC1D17 Homo sapiens Q9HA65 22854040
Intra
OPTN Q96CV9 TBC1D17 Homo sapiens Q9HA65
Y2H
22854040
Intra
OPTN Q96CV9 TBC1D17 Homo sapiens Q9HA65 16189514
Intra
OPTN Q96CV9 TBC1D17 Homo sapiens Q9HA65 22854040
Intra
OPTN Q96CV9 RAB8A Homo sapiens P61006 22854040
Intra
OPTN Q96CV9 RAB8A Homo sapiens P61006 20388642
Intra
OPTN Q96CV9 RAB8A Homo sapiens P61006
Y2H
22854040
Intra
OPTN Q96CV9 RNF216 Homo sapiens Q9NWF9 32296183
Intra
OPTN Q96CV9 RNF216 Homo sapiens Q9NWF9 32296183
Intra
OPTN Q96CV9 RNF216 Homo sapiens Q9NWF9 32296183
Intra
OPTN Q96CV9 ZNF329 Homo sapiens Q86UD4 25416956
Intra
OPTN Q96CV9 DAZAP2 Homo sapiens Q15038 32296183
Intra
OPTN Q96CV9 DAZAP2 Homo sapiens Q15038 25416956
Intra
OPTN Q96CV9 LITAF Homo sapiens Q99732 32814053
Intra
OPTN Q96CV9 LITAF Homo sapiens Q99732 32814053
Intra
OPTN Q96CV9 LITAF Homo sapiens Q99732 32814053
Intra
OPTN Q96CV9 MGAT4B Homo sapiens Q9UQ53 32814053
Intra
OPTN Q96CV9 MGAT4B Homo sapiens Q9UQ53 32814053
Intra
OPTN Q96CV9 MGAT4B Homo sapiens Q9UQ53 32814053
Intra
OPTN Q96CV9 MKNK1 Homo sapiens Q9BUB5 32814053
Intra
OPTN Q96CV9 MKNK1 Homo sapiens Q9BUB5 32814053
Intra
OPTN Q96CV9 MKNK1 Homo sapiens Q9BUB5 32814053
Intra
OPTN Q96CV9 FXR2 Homo sapiens P51116 32814053
Intra
OPTN Q96CV9 FXR2 Homo sapiens P51116 32814053
Intra
OPTN Q96CV9 FXR2 Homo sapiens P51116 32814053
Intra
OPTN Q96CV9 BEGAIN Homo sapiens Q9BUH8 32814053
Intra
OPTN Q96CV9 BEGAIN Homo sapiens Q9BUH8 32814053
Intra
OPTN Q96CV9 BEGAIN Homo sapiens Q9BUH8 32814053
Intra
OPTN Q96CV9 ASMTL Homo sapiens O95671 32814053
Intra
OPTN Q96CV9 ASMTL Homo sapiens O95671 32814053
Intra
OPTN Q96CV9 ASMTL Homo sapiens O95671 32814053
Intra
OPTN Q96CV9 ZNF426 Homo sapiens Q9BUY5 32296183
Intra
OPTN Q96CV9 ZNF426 Homo sapiens Q9BUY5 32296183
Intra
OPTN Q96CV9 ZNF426 Homo sapiens Q9BUY5 32296183
Intra
OPTN Q96CV9 LPXN Homo sapiens O60711 32814053
Intra
OPTN Q96CV9 LPXN Homo sapiens O60711 32814053
Intra
OPTN Q96CV9 LPXN Homo sapiens O60711 32814053
Intra
OPTN Q96CV9 ZNF670 Homo sapiens Q9BS34 25416956
Intra
OPTN Q96CV9 ZNF670 Homo sapiens Q9BS34 32296183
Intra
OPTN Q96CV9 H3C13 Homo sapiens Q71DI3 32814053
Intra
OPTN Q96CV9 H3C13 Homo sapiens Q71DI3 32814053
Intra
OPTN Q96CV9 H3C13 Homo sapiens Q71DI3 32814053
Intra
OPTN Q96CV9 MMAB Homo sapiens Q96EY8 32814053
Intra
OPTN Q96CV9 MMAB Homo sapiens Q96EY8 32814053
Intra
OPTN Q96CV9 MMAB Homo sapiens Q96EY8 32814053
Intra
OPTN Q96CV9 PICK1 Homo sapiens Q9NRD5 32296183
Intra
OPTN Q96CV9 PICK1 Homo sapiens Q9NRD5 32296183
Intra
OPTN Q96CV9 PICK1 Homo sapiens Q9NRD5 32296183
Intra
OPTN Q96CV9 ZNF398 Homo sapiens Q8TD17 25416956
Intra
OPTN Q96CV9 ZNF398 Homo sapiens Q8TD17 25416956
Intra
OPTN Q96CV9 TUT7 Homo sapiens Q5VYS8-5 32814053
Intra
OPTN Q96CV9 TUT7 Homo sapiens Q5VYS8-5 32814053
Intra
OPTN Q96CV9 TUT7 Homo sapiens Q5VYS8-5 32814053
Intra
OPTN Q96CV9 ZNF597 Homo sapiens Q96LX8 32814053
Intra
OPTN Q96CV9 ZNF597 Homo sapiens Q96LX8 32814053
Intra
OPTN Q96CV9 ZNF597 Homo sapiens Q96LX8 32814053
Intra
OPTN Q96CV9 QKI Homo sapiens Q96PU8 32814053
Intra
OPTN Q96CV9 QKI Homo sapiens Q96PU8 32814053
Intra
OPTN Q96CV9 QKI Homo sapiens Q96PU8 32814053
Intra
OPTN Q96CV9 NRL Homo sapiens P54845-1 23956131
Intra
OPTN Q96CV9 NRL Homo sapiens P54845-1
IF
23956131
Cross
OPTN Q96CV9 Q99IB8-PRO_0000045599 Hepatitis C virus Q99IB8-PRO_0000045599
Y2H
24136289
Cross: Cross-species interaction Intra: Intraspecies interaction

OPTN Antibodies

Cat. No. Product Name Application Reactivity
HY-P83382 Optineurin Antibody (YA3127) WB, IHC-P Human
HY-P83382A Optineurin Antibody (YA3127)(PBS only) WB, IHC-P Human
HY-P86607 Optineurin Antibody (YA6299) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Glaucoma, Primary Open Angle
  • Glaucoma 1, Open Angle, E

  • Primary Open Angle Glaucoma

  • POAG

  • Adult-Onset Primary Open Angle Glaucoma

  • Chronic Simple Glaucoma

  • GLC1E

  • Primary Open Angle Glaucoma 1e

  • Glaucoma, Open Angle, Primary

Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
  • ALS12

Glaucoma, Normal Tension
  • Low Tension Glaucoma

  • Glaucoma, Normal Tension, Susceptibility To

  • Normal Tension Glaucoma

  • Ntg

  • Glaucoma, Normal Pressure

  • NPG

  • Glaucoma, Normal Pressure, Susceptibility To

  • Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Amyotrophic Lateral Sclerosis Type 12
  • Amyotrophic Lateral Sclerosis 12

  • Als12

  • Sclerosis, Lateral, Amyotrophic, Type Type 12

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Open-Angle Glaucoma
  • Glaucoma Simplex

  • Pigmentary Glaucoma

  • Wide-Angle Glaucoma

  • Glaucoma, Open-Angle

  • Open Angle Glaucoma

  • Glaucoma Open-Angle

  • Chronic Simple Glaucoma

  • Coag - [Chronic Open-Angle Glaucoma]

  • Csg - [Chronic Simple Glaucoma]

  • Poag - [Primary Open-Angle Glaucoma]

  • Oag - [Open-Angle Glaucoma]

  • Chronic Glaucoma

  • Chronic Open Angle Glaucoma

  • Simple Glaucoma

  • Chronic Noncongestive Glaucoma

  • Ltg - [Low Tension Glaucoma]

  • Noncongestive Glaucoma

  • Nonobstructive Glaucoma

  • Normal Pressure Glaucoma

  • Primary Low Tension Glaucoma

  • Low-Tension Glaucoma

  • Residual Stage Low Tension Glaucoma

  • Open Cleft Glaucoma

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Intraocular Pressure Quantitative Trait Locus
  • Glaucoma

  • IOPQTL

  • Glaucoma, Susceptibility To

  • Postinfectious Glaucoma

  • Glaucoma With Ocular Inflammation

  • Glaucoma Secondary To Eye Inflammation

  • Traumatic Glaucoma

  • Glaucoma With Concussion Of Globe

  • Glaucoma Due To Ocular Trauma

  • Glaucoma Associated With Ocular Trauma

  • Glaucoma Secondary To Drugs

Glaucoma 1, Open Angle, A
  • GLC1A

  • Joag1

  • Glaucoma, Primary Open Angle, Juvenile-Onset, 1

  • Glaucoma 1a, Primary Open Angle

  • Primary Open Angle Glaucoma Juvenile Onset 1

  • Glaucoma Hereditary, Juvenile

  • Juvenile-Onset Primary Open Angle Glaucoma 1

  • Primary Open Angle Glaucoma 1a

  • Glaucoma, Open Angle, Type 1a

Glaucoma 3, Primary Congenital, A
  • Buphthalmos

  • Glaucoma, Congenital

  • Congenital Glaucoma

  • Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

  • GLC3A

  • Glc3

  • Buphthalmia

  • Primary Congenital Glaucoma

  • Glaucoma, Primary Open Angle, Juvenile-Onset

  • Simple Buphthalmos

  • Buphthalmus

  • Glaucoma, Primary Open Angle, Adult-Onset

  • Primary Congenital Glaucoma 3a

  • Primary Infantile Glaucoma Type 3a

  • Glaucoma 3a, Primary Congenital

  • Glaucoma, Congenital, Primary, Type 3a

  • Hydrophthalmos

  • Cystic Eyeball

Ocular Hypertension
  • Hypertension, Ocular

  • Intraocular Pressure Increase

  • Oh - [Ocular Hypertension]

  • Oht - [Ocular Hypertension]

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Aphasia
Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Paget'S Disease Of Bone
  • Osteitis Deformans

  • Paget Disease Of Bone

  • Osseous Paget'S Disease

  • Paget Disease Of Bone, Familial

  • Bone Paget Disease

  • Familial Paget'S Disease Of Bone

  • Paget'S Bone Disease

  • Familial Paget Disease Of Bone

  • Paget Disease, Bone

  • Pdb

  • Pagets Bone Disease

Juvenile Glaucoma
  • Glaucoma Of Childhood

  • Hydrophthalmos

Spinocerebellar Ataxia 2
  • Spinocerebellar Ataxia Type 2

  • SCA2

  • Amyotrophic Lateral Sclerosis 13

  • Spinocerebellar Degeneration With Slow Eye Movements

  • SDSEM

  • Spinocerebellar Atrophy Ii

  • Olivopontocerebellar Atrophy Ii

  • Opca2

  • Cerebellar Degeneration With Slow Eye Movements

  • Wadia-Swami Syndrome

  • Amyotrophic Lateral Sclerosis Type 13

  • ALS13

  • Olivopontocerebellar Atrophy Holguin Type

  • Spinocerebellar Ataxia Cuban Type

  • Olivopontocerebellar Atrophy, Holguin Type

  • Spinocerebellar Ataxia, Cuban Type

  • Amyotrophic Lateral Sclerosis, Susceptibility To, 13

  • Olivopontocerebellar Atrophy 2

  • Sca 2

  • Spinocerebellar Ataxia With Slow Eye Movements

  • Spinocerebellar Atrophy 2

  • Wadia Swami Syndrome

  • Opca Ii

  • Spinocerebellar Ataxia-2

  • Ataxia, Spinocerebellar, Type 2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Primary Congenital Glaucoma
Amyotrophic Lateral Sclerosis Type 15
  • Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia

  • Als15

  • Amyotrophic Lateral Sclerosis 15

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Amyotrophic Lateral Sclerosis Type 14
  • Als14

  • Amyotrophic Lateral Sclerosis 14

  • Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Acute Closed-Angle Glaucoma
  • Acute Angle-Closure Glaucoma

Multisystem Proteinopathy
Phacogenic Glaucoma
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis Type 10

  • ALS10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

  • Frontotemporal Lobar Degeneration, Tardbp-Related

  • Amyotrophic Lateral Sclerosis 10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

  • Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

  • Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

  • Sclerosis, Lateral, Amyotrophic, Type Type 10

Steroid-Induced Glaucoma
  • Corticosteroid-Induced Glaucoma

Amyotrophic Lateral Sclerosis 11
  • Amyotrophic Lateral Sclerosis Type 11

  • ALS11

  • Sclerosis, Lateral, Amyotrophic, Type Type 11

Primary Angle-Closure Glaucoma
  • Primary Angle Closure Glaucoma

  • Angle Closure Glaucoma

  • Acg - [Angle Closure Glaucoma]

  • Angle-Closure Glaucoma

  • Closed Angle Glaucoma

  • Acute Glaucoma

  • Prodromal Angle Closure Glaucoma

Amyotrophic Lateral Sclerosis 16, Juvenile
  • Amyotrophic Lateral Sclerosis Type 16

  • ALS16

  • Amyotrophic Lateral Sclerosis 16

  • Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
  • Ibmpfd

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Multisystem Proteinopathy

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Progressive Muscular Atrophy
  • Progressive Spinal Muscular Atrophy

  • Pure Progressive Muscular Atrophy

  • Pma

  • Hereditary Spinal Muscle Atrophy

  • Pma - [Progressive Muscular Atrophy]

  • Progressive Muscle Atrophy

  • Progressive Spinal Muscle Atrophy

  • Duchenne-Aran Atrophy

  • Duchenne-Aran Muscle Atrophy

  • Hereditary Sma - [Spinal Muscle Atrophy]

Amyotrophic Lateral Sclerosis 8
  • Amyotrophic Lateral Sclerosis Type 8

  • ALS8

  • Sclerosis, Lateral, Amyotrophic, Type Type 8

Mammary Paget'S Disease
  • Paget'S Disease

  • Mammary Paget Disease

  • Paget'S Disease Of The Breast

  • Paget Disease Of The Breast

  • Paget'S Disease Of The Nipple

  • Paget'S Disease, Mammary

  • Paget Cell Neoplasm

  • Paget Disease Of The Nipple

  • Pagets Disease Mammary

  • Osteitis Deformans

Amyotrophic Lateral Sclerosis Type 6
  • Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

  • Als6

  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

  • Autosomal Recessive Amyotrophic Lateral Sclerosis 6

  • Sclerosis, Lateral, Amyotrophic, Type Type 6

  • Amyotrophic Lateral Sclerosis 6

Keratitis, Hereditary
  • Keratitis

  • Autosomal Dominant Keratitis

  • Hereditary Keratitis

  • Dominantly Inherited Keratitis

  • Keratitis Hereditary

  • KERH

Retinal Degeneration
  • Degeneration Of Retina

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Giant Axonal Neuropathy 2
Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus OPTN VGNC VGNC:32442
Felis catus OPTN VGNC VGNC:63970
Macaca mulatta OPTN VGNC VGNC:75415
Canis familiaris OPTN VGNC VGNC:44136
Rattus norvegicus OPTN RGD RGD:628886
Mus musculus OPTN MGD MGI:1918898
Others OPTN NCBI