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OPTN
HPA
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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
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Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


  • SUMMARY

  • TISSUE

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  • SUBCELL

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  • STRUCT & INT

  • OPTN
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

OPTN
Synonyms FIP-2, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
Gene descriptioni

Full gene name according to HGNC.

Optineurin
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Late spermatids - Spermatogenesis (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (Late spermatids)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Skeletal muscle - Striated muscle contraction (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Group enriched (Skeletal muscle, Tongue)
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Cytosol
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 10
Cytoband p13
Chromosome location (bp) 13099449 - 13138308
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000123240 (version 109)
Entrez gene 10133
HGNC HGNC:17142
UniProt Q96CV9 (UniProt - Evidence at protein level)
neXtProt NX_Q96CV9
GeneCards OPTN
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
OPTN-201
OPTN-202
OPTN-203
OPTN-204
OPTN-205
OPTN-206
OPTN-207
OPTN-211

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
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Benign
Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
OPTN-201
Q96CV9
Show all
Transporters
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
577 aa
65.9 kDa
No 0
OPTN-202
Q96CV9
Show all
Transporters
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
577 aa
65.9 kDa
No 0
OPTN-203
Q96CV9
Show all
Transporters
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
577 aa
65.9 kDa
No 0
OPTN-204
Q96CV9
Show all
Transporters
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
571 aa
65.2 kDa
No 0
OPTN-205
Q96CV9
Show all
Transporters
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
577 aa
65.9 kDa
No 0
OPTN-206
Q96CV9
Show all
Transporters
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
571 aa
65.2 kDa
No 0
OPTN-207
H7C1H4
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
126 aa
13.8 kDa
No 0
OPTN-211
A0A087WY28
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
107 aa
11.5 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Skeletal muscle - Striated muscle contraction

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 23
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AKAP611300
DST362000
DYNLL28351971023
DYSF16161700
HACE133800
HTT366675600
LNX215631800
MPP1222310
RAB10461472
RAB8A5181905
RBM1212685
SLMAP8423140
SNX6482126
SQSTM1314030520
TBC1D1538910
TBC1D1711603
TBK1223074114
TNIP122687600
TOMM4092361126
TTN7132900
VWF24600
WDR20991230
ZNF426133100
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 128 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABHD17C011100
ACSS301100
AKAP611300
ANXA5051111
AP3B13513011
ARRDC36361100
ASCL4234204
ASMTL18200
ATL1117460
BEGAIN129102
BIRC59222410
BTN3A203106
C17orf6702000
C8orf48017000
CAPN1381717
CCDC13037000
CDC231969292310
CENPA3182720
CEP250121200
CEP72419901
CFL17143964
CNIH3023000
CPN104000
CRYM02001
DAZAP2101241702
DKK404002
DST362000
DUS3L11111
DYSF16161700
ENTPD202000
FXR220614481
GABRG101000
GPANK1165102
H3C13028191
H3C143282701
H3C152283901
HACE133800
HDAC1006400
HLA-DPB101100
HSF2BP3224500
HTR1E03000
HTT366675600
IK11211674
IL4I102100
IRF812500
IRGM011200
KIAA082503000
KRTAP9-21123200
LDHAL6B017007
LITAF5471000
LNX215631800
LPXN210305
MECP28349590
MGARP11420115
MGAT4B02000
MKNK136520
MMAB05806
MPP1222310
MTFP101001
MYEOV04007
NIP7141100
NMRAL112605
NUDCD238830
ODF3L2010103
P2RY401000
PALM2AKAP201101
PAPSS203210
PAXX02107
PDZK1IP1072100
PEX16223300
PICK1102763309
POU6F20103000
PPP1R1149800
PROS1043012
PSMC23620753415
QKI11151832
RAB10461472
RAB8A5181905
RASSF27151223
RBM1212685
RETREG3109113035
RNF112018100
RNF2162121200
RNF5144432010
RPP256259011
S100A13151000
SDCBP62412600
SLC2A1303000
SLC39A117100
SLMAP8423140
SMAD19133800
SMARCD11710547160
SNW148891281925
SNX6482126
SPATS1017000
SPHK201300
SQSTM1314030520
ST8SIA101006
STIM152123413
SUCLA2071510
TARS104710
TBC1D1538910
TBC1D1711603
TBK1223074114
THADA031020
THAP6013002
THOP101400
TNIP122687600
TTN7132900
UBE2A3172721
USP26782800
VWF24600
WASHC3154518722
WDR20991230
ZBTB14154601
ZBTB48023313
ZHX1-C8orf76013000
ZKSCAN123306
ZMAT2244783
ZNF17011100
ZNF281041100
ZNF329021000
ZNF398217302
ZNF41903000
ZNF426133100
ZNF597080011
ZNF670319311
ZYG11B146029
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 71
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AIMP13223113
AKAP1715837
AKAP611300
ATG16L1799000
ATG511182629
ATG9A41123310
CALCOCO2201185705
CDKN1A295092019
CYLD9512150
DST362000
DYNLL28351971023
DYSF16161700
EPS151795185
GABARAP19414401
GABARAPL123604411
GABARAPL223763311
GRM101400
HACE133800
HSPD120371251145
HTT366675600
IRAK112125210
LNX215631800
MAP1LC3A8157010
MAP1LC3B31578360
MAP1LC3C10352000
MAVS16256702
MFF11710
MPP1222310
MTCH2013705
MYO612556150
NEB471201
NRL00200
PRKCI11143453
PRKN1111140500
RAB10461472
RAB11A21112034713
RAB11B5917514
RAB1210240
RAB1434143510
RAB1B95211910
RAB2522705
RAB7A2811124361
RAB8A5181905
RBM1212685
RFFL001400
RIPK113185409
SLMAP8423140
SNX6482126
SOD15516101
SQSTM1314030520
TAX1BP112583300
TBC1D1538910
TBC1D1711603
TBK1223074114
TFRC32311110
TNF3353400
TNIP122687600
TOMM4092361126
TTN7132900
UBB23622516
UBC345845240
UBXN1342700
VCP5453347435
VWF24600
WDR20991230
WIPI2031000
WWP2185213911
YWHAG25226342722213
YWHAH133393941446
ZDHHC17273248018
ZNF426133100
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DYNLL1104601411177
DYNLL28351971023
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 14
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
EPHX1011215
LETM1038816
NARS101303
NDRG141422215
PTGFRN214314
RAP1B063027
RBM1212685
RHOA2121120916
SFXN12159029
STX121833324118
THUMPD1113010
TOMM4092361126
TTLL12457111
ZMPSTE24126716
Show allShow less
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

OPTN is not a metabolic protein

Contact

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The Human Protein Atlas

  • DOWNLOADABLE DATA
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org