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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Patient ID
Tissue
Category
Cluster
Reliability
Brain region
Category
Brain region
Category
Brain region
Category
Cluster
Reliability
Cell type
Category
Cluster
Tissue
Cell type
Enrichment
Cancer
Prognosis
Cancer
Category
Cell type
Category
Cell lineage
Category
Cluster
Annotation
Disease
Location
Searches
Location
Cell line
Type
Phase
Reliability
Cancer type
Category
Cluster
Interacting gene
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Protein structure
In atlas
Column


  • SUMMARY

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INTERACTION
Protein interactions
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
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
Number of transcriptsi

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

8
HUMAN PROTEIN ATLAS INFORMATIONi

Summary of data presented in the Tissue section, with a representative image of protein expression (left) and an interactive chart showing the tissue-specific mRNA expression (right). The image and the chart are clickable and will redirect to more Tissue data.
This section contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry.

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)
Tau specificity score (RNA)i

Tau specificity score is a numerical indicator of the specificity of the gene expression across cells or tissues. The value ranges from 0 and 1, where 0 indicates identical expression across all cells/tissue types, while 1 indicates expression in a single cell/tissue type.

0.40
Tissue distribution (RNA)i

The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA and GTEX. The categories include: detected in all, detected in many, detected in some, detected in single and not detected.

Detected in all
Protein evidencei

Evidence score for genes based on UniProt protein existence (UniProt evidence); neXtProt protein existence (neXtProt evidence);and a Human Protein Atlas antibody- or RNA based score (HPA evidence). The avaliable scores are evidence at protein level, evidence at transcript level, no evidence, or not avaliable.

Read more
Evidence at protein level
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
INTERACTION SUMMARYi

In the Interaction summary a network plot of the gene's interaction partners is shown with nodes representing genes and edges representing the interaction type and the confidence (MI score) for the interaction. The type of interaction (direct interaction or physical association) is reflected by the colour of the edges, while the confidence of the interaction is reflected by the thickness of the edges. Scores larger than 0.6 (high confidence) have a thicker line than scores between 0.45 and 0.6 (medium confidence).

The highlight bar in the top of the plot can be used to colour 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.

Nodes can also be highlighted 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.

Highlight:
Off
Subcell location
Predicted location
Tissue specificity
Protein class

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
Patient ID
Tissue
Category
Cluster
Reliability
Brain region
Category
Brain region
Category
Brain region
Category
Cluster
Reliability
Cell type
Category
Cluster
Tissue
Cell type
Enrichment
Cancer
Prognosis
Cancer
Category
Cell type
Category
Cell lineage
Category
Cluster
Annotation
Disease
Location
Searches
Location
Cell line
Type
Phase
Reliability
Cancer type
Category
Cluster
Interacting gene
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Protein structure
In atlas
Column


Number of interactions: 127 View all protein interaction data in IntAct
Interaction Interaction type Confidence MI score # Interactions
TNIP1 Physical association High 0.96 67
WASHC3 Physical association High 0.95 44
TBK1 Physical association High 0.9 30
HTT Direct interaction High 0.82 665
TBC1D15 Physical association High 0.81 8
CDC23 Physical association High 0.79 69
TBC1D17 Physical association High 0.74 1
DAZAP2 Physical association High 0.72 124
RBM12 Physical association High 0.72 2
ZNF670 Physical association High 0.72 19
HACE1 Direct interaction High 0.69 3
ZMAT2 Physical association High 0.68 44
LNX2 Physical association High 0.67 63
ZNF426 Physical association High 0.67 33
RAB8A Physical association High 0.63 18
SQSTM1 Physical association Medium 0.56 36
ABHD17C Physical association Medium 0.56 11
ACSS3 Physical association Medium 0.56 1
ANXA5 Physical association Medium 0.56 5
AP3B1 Physical association Medium 0.56 5
ARRDC3 Physical association Medium 0.56 36
ASCL4 Physical association Medium 0.56 34
ASMTL Physical association Medium 0.56 8
ATL1 Physical association Medium 0.56 17
BEGAIN Physical association Medium 0.56 29
BIRC5 Physical association Medium 0.56 22
BTN3A2 Physical association Medium 0.56 3
C17orf67 Physical association Medium 0.56 2
C8orf48 Physical association Medium 0.56 17
CAPN1 Physical association Medium 0.56 7
CCDC13 Physical association Medium 0.56 37
CENPA Physical association Medium 0.56 18
CEP250 Physical association Medium 0.56 2
CEP72 Physical association Medium 0.56 19
CFL1 Physical association Medium 0.56 12
CNIH3 Physical association Medium 0.56 23
CPN1 Physical association Medium 0.56 4
CRYM Physical association Medium 0.56 2
DKK4 Physical association Medium 0.56 4
DUS3L Physical association Medium 0.56 1
ENTPD2 Physical association Medium 0.56 2
FXR2 Physical association Medium 0.56 58
GABRG1 Physical association Medium 0.56 1
GPANK1 Physical association Medium 0.56 65
H3C13 Physical association Medium 0.56 27
H3C14 Physical association Medium 0.56 27
H3C15 Physical association Medium 0.56 27
HDAC10 Physical association Medium 0.56 6
HLA-DPB1 Physical association Medium 0.56 1
HSF2BP Physical association Medium 0.56 223
HTR1E Physical association Medium 0.56 2
IK Physical association Medium 0.56 21
IL4I1 Physical association Medium 0.56 2
IRF8 Physical association Medium 0.56 2
IRGM Physical association Medium 0.56 1
KIAA0825 Physical association Medium 0.56 3
KRTAP9-2 Physical association Medium 0.56 123
LDHAL6B Physical association Medium 0.56 17
LITAF Physical association Medium 0.56 47
LPXN Physical association Medium 0.56 10
MECP2 Physical association Medium 0.56 33
MGARP Physical association Medium 0.56 14
MGAT4B Physical association Medium 0.56 2
MKNK1 Physical association Medium 0.56 6
MMAB Physical association Medium 0.56 4
MTFP1 Physical association Medium 0.56 1
MYEOV Physical association Medium 0.56 3
NIP7 Physical association Medium 0.56 3
NMRAL1 Physical association Medium 0.56 2
NUDCD2 Physical association Medium 0.56 6
ODF3L2 Physical association Medium 0.56 10
P2RY4 Physical association Medium 0.56 1
PALM2AKAP2 Physical association Medium 0.56 1
PAPSS2 Physical association Medium 0.56 3
PAXX Physical association Medium 0.56 2
PDZK1IP1 Physical association Medium 0.56 71
PEX16 Physical association Medium 0.56 23
PICK1 Physical association Medium 0.56 275
POU6F2 Physical association Medium 0.56 102
PPP1R11 Physical association Medium 0.56 9
PROS1 Physical association Medium 0.56 4
PSMC2 Physical association Medium 0.56 13
QKI Physical association Medium 0.56 15
RAB10 Physical association Medium 0.56 6
RASSF2 Physical association Medium 0.56 15
RETREG3 Physical association Medium 0.56 91
RNF112 Physical association Medium 0.56 18
RNF216 Physical association Medium 0.56 12
RNF5 Physical association Medium 0.56 44
RPP25 Physical association Medium 0.56 25
S100A1 Physical association Medium 0.56 15
SDCBP Physical association Medium 0.56 240
SLC2A13 Physical association Medium 0.56 3
SLC39A1 Physical association Medium 0.56 7
SMAD1 Physical association Medium 0.56 13
SMARCD1 Physical association Medium 0.56 104
SNW1 Physical association Medium 0.56 89
SPATS1 Physical association Medium 0.56 17
SPHK2 Physical association Medium 0.56 1
ST8SIA1 Physical association Medium 0.56 1
STIM1 Physical association Medium 0.56 20
SUCLA2 Physical association Medium 0.56 7
TARS1 Physical association Medium 0.56 4
THADA Physical association Medium 0.56 3
THAP6 Physical association Medium 0.56 13
THOP1 Physical association Medium 0.56 1
UBE2A Physical association Medium 0.56 17
USP2 Physical association Medium 0.56 78
ZBTB14 Physical association Medium 0.56 54
ZBTB48 Physical association Medium 0.56 23
ZHX1-C8orf76 Physical association Medium 0.56 13
ZKSCAN1 Physical association Medium 0.56 3
ZNF17 Physical association Medium 0.56 11
ZNF281 Physical association Medium 0.56 4
ZNF329 Physical association Medium 0.56 21
ZNF398 Physical association Medium 0.56 16
ZNF419 Physical association Medium 0.56 3
ZNF597 Physical association Medium 0.56 8
ZYG11B Physical association Medium 0.56 3
DYSF Physical association Medium 0.5 16
MPP1 Physical association Medium 0.5 22
AKAP6 Physical association Medium 0.45 1
DST Physical association Medium 0.45 6
SLMAP Physical association Medium 0.45 4
SNX6 Physical association Medium 0.45 7
TTN Physical association Medium 0.45 13
VWF Physical association Medium 0.45 4
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

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


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