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This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] See more...
Aliases for KLHDC8A Gene
Aliases for KLHDC8A Gene
External Ids for KLHDC8A Gene
- HGNC: 25573
- Entrez Gene: 55220
- Ensembl: ENSG00000162873
- OMIM: 614503
- UniProtKB: Q8IYD2
Previous GeneCards Identifiers for KLHDC8A Gene
- GC01M202038
- GC01M203571
- GC01M176471
Summaries for KLHDC8A Gene
-
This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
GeneCards Summary for KLHDC8A Gene
KLHDC8A (Kelch Domain Containing 8A) is a Protein Coding gene. Diseases associated with KLHDC8A include Zellweger Syndrome. An important paralog of this gene is KLHDC8B.
Additional gene information for KLHDC8A Gene
- HGNC(25573)
- Entrez Gene(55220)
- Ensembl(ENSG00000162873)
- OMIM(614503)
- UniProtKB(Q8IYD2)
- Open Targets Platform(ENSG00000162873)
- Search for KLHDC8A at DataMed
- Search for KLHDC8A at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHDC8A Gene
Genomics for KLHDC8A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KLHDC8A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KLHDC8A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHDC8A
- Top Transcription factor binding sites by QIAGEN in the KLHDC8A gene promoter:
-
- GCNF
- GCNF-1
- GCNF-2
- HOXA9
- HOXA9B
- LyF-1
- Meis-1
- Meis-1b
- Nkx2-2
- Nkx6-1
Genomic Locations for KLHDC8A Gene
Genomic Locations for KLHDC8A Gene
- chr1:205,336,061-205,357,090
- (GRCh38/hg38)
- Size:
- 21,030 bases
- Orientation:
- Minus strand
- chr1:205,305,220-205,326,218
- (GRCh37/hg19)
- Size:
- 20,999 bases
- Orientation:
- Minus strand
Genomic View for KLHDC8A Gene
Genes around KLHDC8A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
KLHDC8A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KLHDC8A Gene
Proteins for KLHDC8A Gene
-
Protein details for KLHDC8A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IYD2-KLD8A_HUMAN
- Recommended name:
- Kelch domain-containing protein 8A
- Protein Accession:
- Q8IYD2
- B3KU70
- Q9NVG5
Protein attributes for KLHDC8A Gene
- Size:
- 350 amino acids
- Molecular mass:
- 38859 Da
- Quaternary structure:
- No Data Available
Protein Expression for KLHDC8A Gene
Post-translational modifications for KLHDC8A Gene
Other Protein References for KLHDC8A Gene
Antibody Products
- Creative Diagnostics Anti-KLHDC8A monoclonal antibody
- Creative Biolabs Mouse Anti-KLHDC8A Recombinant Antibody (8BA12)
- Novus Biologicals Antibodies for KLHDC8A
-
Abcam antibodies for KLHDC8A
- Invitrogen Antibodies for KLHDC8A (AFLGC-KLHDC8A)
-
Biorbyt antibodies for KLHDC8A
Protein Products
-
OriGene Purified Proteins for KLHDC8A
- Search Origene for MassSpec and Protein Over-expression Lysates for KLHDC8A
- Origene Custom Protein Services for KLHDC8A
- antibodies-online: Show 3 available KLHDC8A Proteins ranked by validation data
- Compare Top KLHDC8A Proteins
-
Quality Products:
-
Abcam proteins for KLHDC8A
No data available for DME Specific Peptides for KLHDC8A Gene
Domains & Families for KLHDC8A Gene
Gene Families for KLHDC8A Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KLHDC8A Gene
- InterPro:
- Blocks:
-
- Kelch repeat signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KLHDC8A Gene
- GenScript: Design optimal peptide antigens:
-
- Kelch domain-containing protein 8A (KLD8A_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHDC8A Gene
Function for KLHDC8A Gene
Phenotypes From GWAS Catalog for KLHDC8A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25036637 |
Phenotypes for KLHDC8A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KLHDC8A - Select products 50% OFF >
- * KLHDC8A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHDC8A
miRNA for KLHDC8A Gene
- miRTarBase miRNAs that target KLHDC8A
-
- mmu-miR-297a-5p (MIRT012934)
- hsa-miR-887-5p (MIRT474508)
- hsa-miR-6819-5p (MIRT474509)
- hsa-miR-6812-5p (MIRT474510)
- hsa-miR-6737-5p (MIRT474511)
- hsa-miR-6780a-5p (MIRT474512)
- hsa-miR-6779-5p (MIRT474513)
- hsa-miR-3689c (MIRT474514)
- hsa-miR-3689b-3p (MIRT474515)
- hsa-miR-3689a-3p (MIRT474516)
- hsa-miR-30b-3p (MIRT474517)
- hsa-miR-1273h-5p (MIRT474518)
- hsa-miR-6788-5p (MIRT474519)
- hsa-miR-30c-2-3p (MIRT474520)
- hsa-miR-30c-1-3p (MIRT474521)
- hsa-miR-1273e (MIRT474522)
- hsa-miR-6778-5p (MIRT474523)
- hsa-miR-1233-5p (MIRT474524)
- hsa-miR-6766-5p (MIRT474525)
- hsa-miR-6747-5p (MIRT474526)
- hsa-miR-6756-5p (MIRT474527)
- hsa-miR-608 (MIRT474528)
- hsa-miR-4651 (MIRT474529)
- hsa-miR-4664-5p (MIRT474530)
- hsa-miR-342-5p (MIRT474531)
- hsa-miR-6799-5p (MIRT474532)
- hsa-miR-7106-5p (MIRT474533)
- hsa-miR-5787 (MIRT474534)
- hsa-miR-4505 (MIRT474535)
- hsa-miR-6894-5p (MIRT474536)
- hsa-miR-6884-5p (MIRT474537)
- hsa-miR-485-5p (MIRT474538)
- hsa-miR-7155-5p (MIRT474539)
- hsa-miR-890 (MIRT474540)
- hsa-miR-7703 (MIRT673215)
- hsa-miR-6720-5p (MIRT673216)
- hsa-miR-6512-3p (MIRT673217)
- hsa-miR-196a-3p (MIRT673218)
- hsa-miR-4696 (MIRT673219)
- hsa-miR-4725-5p (MIRT673220)
- hsa-miR-6860 (MIRT673221)
- hsa-miR-612 (MIRT673222)
- hsa-miR-5189-5p (MIRT673223)
- hsa-miR-3187-5p (MIRT673224)
- hsa-miR-1285-3p (MIRT673225)
- hsa-miR-766-3p (MIRT673226)
- hsa-miR-372-5p (MIRT673227)
- hsa-miR-371a-5p (MIRT673228)
- hsa-miR-616-5p (MIRT673229)
- hsa-miR-373-5p (MIRT673230)
- hsa-miR-371b-5p (MIRT673231)
- hsa-miR-5699-3p (MIRT673232)
- hsa-miR-4421 (MIRT673233)
- hsa-miR-939-3p (MIRT673234)
- hsa-miR-339-5p (MIRT673235)
- hsa-miR-6849-3p (MIRT673236)
- hsa-miR-1273g-3p (MIRT673237)
- hsa-miR-6501-3p (MIRT673238)
- hsa-miR-3613-3p (MIRT673239)
- hsa-miR-451b (MIRT673240)
- hsa-miR-508-5p (MIRT673241)
- hsa-miR-10b-5p (MIRT673242)
- hsa-miR-10a-5p (MIRT673243)
- hsa-miR-3667-5p (MIRT673244)
- hsa-miR-6848-3p (MIRT676916)
- hsa-miR-6843-3p (MIRT676917)
- hsa-miR-640 (MIRT676918)
- hsa-miR-378a-5p (MIRT676919)
- hsa-miR-6821-3p (MIRT676920)
- hsa-miR-6790-3p (MIRT676921)
- hsa-miR-3663-5p (MIRT676922)
- hsa-miR-3934-5p (MIRT676923)
- hsa-miR-764 (MIRT676924)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for KLHDC8A - Select products 50% OFF >
- * KLHDC8A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Sino Biological Human cDNA Clone for KLHDC8A
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Cell Line Products
-
Horizon Cell Lines for KLHDC8A
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC8A Gene
Localization for KLHDC8A Gene
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| endoplasmic reticulum | 0 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for KLHDC8A Gene
Pathways & Interactions for KLHDC8A Gene
Interacting Proteins for KLHDC8A Gene
Selected Interacting proteins:
Q8IYD2-KLD8A_HUMAN
ENSP00000356124
for KLHDC8A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KLHDC8A
No data available for Pathways by source and SIGNOR curated interactions for KLHDC8A Gene
Transcripts for KLHDC8A Gene
mRNA/cDNA for KLHDC8A Gene
- 4 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367155 2928 nts (view in UCSC)
- ENST00000367156 3177 nts (view in UCSC)
- ENST00000460687 1022 nts (view in UCSC)
- ENST00000491471 948 nts (view in UCSC)
- ENST00000539253 2931 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KLHDC8A - Select products 50% OFF >
- * KLHDC8A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KLHDC8A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHDC8A
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHDC8A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLHDC8A
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Clone Products
- Applied Biological Materials (abm): Clones for KLHDC8A - Select products 50% OFF >
- * KLHDC8A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Sino Biological Human cDNA Clone for KLHDC8A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHDC8A
Relevant External Links for KLHDC8A Gene
- GeneLoc Exon Structure for
- KLHDC8A
Expression for KLHDC8A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
- Neural Tube (Nervous System)
-
Heart (Cardiovascular System)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for KLHDC8A Gene
This gene is overexpressed in Ovary (x29.5).
This gene is overexpressed in Bone marrow mesenchymal stem cell (68.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLHDC8A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHDC8A
SOURCE GeneReport for Unigene cluster for KLHDC8A Gene:
Hs.10414Evidence on tissue expression from TISSUES for KLHDC8A Gene
- Nervous system(3.6)
Primer Products
-
OriGene qPCR primer pairs for KLHDC8A
-
OriGene qPCR primer pairs and template standards for KLHDC8A
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHDC8A Gene
Orthologs for KLHDC8A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KLHDC8A 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KLHDC8A 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KLHDC8A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KLHDC8A 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Klhdc8a 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Klhdc8a 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KLHDC8A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KLHDC8A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KLHDC8A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | klhdc8a 30 |
|
||
| Str.108 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC794258 30 |
|
||
| KLHDC8A 31 |
|
OneToOne | |||
| Worm (Caenorhabditis elegans) |
Secernentea | C53A5.11 31 |
|
ManyToMany | |
| C53A5.9 31 |
|
ManyToMany | |||
| C53A5.6 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for KLHDC8A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for KLHDC8A Gene
- ENSEMBL:
- Gene Tree for KLHDC8A (if available)
- TreeFam:
- Gene Tree for KLHDC8A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLHDC8A: view image
Paralogs for KLHDC8A Gene
Paralogs for KLHDC8A Gene
- KLHDC8B 5
- KLHL8 5
- KLHL10 5
- KLHL17 5
- IVNS1ABP 5
- KLHL1 5
- KLHL5 5
- KLHL2 5
- KLHL18 5
- KLHL4 5
- KLHL3 5
- KLHL12 5
- KLHL28 5
- KLHL21 5
- KLHL20 5
- KLHL31 5
- KLHL7 5
- KLHL13 5
- IPP 5
- KLHL9 5
- KLHL14 5
- KLHL30 5
- KEAP1 5
- KLHL26 5
- KBTBD12 5
- KLHL41 5
- KLHL23 5
- KLHL40 5
- KLHL34 5
- KLHL29 5
- KLHL36 5
- KLHL15 5
- KBTBD11 5
- KLHL35 5
- KLHL32 5
- KLHL6 5
- KLHL24 5
- KLHL22 5
- KBTBD6 5
- KBTBD7 5
- KLHL38 5
- KBTBD2 5
- KBTBD3 5
- KBTBD8 5
- GAN 5
- KBTBD13 5
- KLHDC7A 5
- KLHDC7B 5
- KLHL33 5
- BACH2 5
- KLHL42 5
- CCIN 5
- BTBD18 5
- GRIK1-AS2 5
- ENSG00000277971 5
(9) SIMAP similar genes for KLHDC8A Gene using alignment to 8 proteins:
- KLD8A_HUMAN
- F5H5F1_HUMAN
- U3KPW1_HUMAN
- U3KPX9_HUMAN
- U3KQC2_HUMAN
- U3KQH1_HUMAN
- U3KQI4_HUMAN
- U3KQK4_HUMAN
Variants for KLHDC8A Gene
Residual Variation Intolerance Score:
28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.07;
21.84% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KLHDC8A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KLHDC8A
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHDC8A Gene
Disorders for KLHDC8A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| zellweger syndrome |
|
|
Search KLHDC8A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KLHDC8A
No data available for UniProtKB/Swiss-Prot and Genatlas for KLHDC8A Gene
Publications for KLHDC8A Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
- A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M … Lindquist S (Cell 2014) 3
- Mutant EGFR is required for maintenance of glioma growth in vivo, and its ablation leads to escape from receptor dependence. (PMID: 20133782) Mukasa A … Furnari F (Proceedings of the National Academy of Sciences of the United States of America 2010) 3
ExternalLinks
Products for KLHDC8A Gene
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- antibodies-online: Show 4 available KLHDC8A Antibodies ranked by validation data
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- antibodies-online: Show 3 available KLHDC8A Proteins ranked by validation data
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- Quality Products:
- Horizon Cell Lines for KLHDC8A
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- Biorbyt antibodies for KLHDC8A
Sources for KLHDC8A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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