Aliases for RHPN2 Gene
Aliases for RHPN2 Gene
External Ids for RHPN2 Gene
- HGNC: 19974
- Entrez Gene: 85415
- Ensembl: ENSG00000131941
- OMIM: 617932
- UniProtKB: Q8IUC4
Previous GeneCards Identifiers for RHPN2 Gene
- GC19M033918
- GC19M038145
- GC19M038161
- GC19M033469
- GC19M029972
Summaries for RHPN2 Gene
-
This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
GeneCards Summary for RHPN2 Gene
RHPN2 (Rhophilin Rho GTPase Binding Protein 2) is a Protein Coding gene. Among its related pathways are Signaling by Rho GTPases and RHO GTPases Activate Rhotekin and Rhophilins. An important paralog of this gene is RHPN1.
UniProtKB/Swiss-Prot for RHPN2 Gene
-
Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.
Additional gene information for RHPN2 Gene
- Monarch Initiative
- Search for RHPN2 at DataMed
- Search for RHPN2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHPN2 Gene
Genomics for RHPN2 Gene
GeneHancer (GH) Regulatory Elements for RHPN2 Gene
Promoters and enhancers for RHPN2 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 RHPN2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RHPN2 gene promoter:
-
- GCNF-2
- GCNF-1
- GCNF
- Pax-4a
- Sox5
- Pax-5
- SRY
- LCR-F1
- GR-beta
- GR-alpha
Regulatory Element Products
Genomic Locations for RHPN2 Gene
Genomic Locations for RHPN2 Gene
- chr19:32,978,592-33,064,918
- (GRCh38/hg38)
- Size:
- 86,327 bases
- Orientation:
- Minus strand
- chr19:33,469,498-33,555,824
- (GRCh37/hg19)
- Size:
- 86,327 bases
- Orientation:
- Minus strand
Genomic View for RHPN2 Gene
Genes around RHPN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.11 by Entrez Gene
- 19q13.12 by HGNC
- 19q13.11 by Ensembl
RHPN2 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 RHPN2 Gene
Proteins for RHPN2 Gene
-
Protein details for RHPN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IUC4-RHPN2_HUMAN
- Recommended name:
- Rhophilin-2
- Protein Accession:
- Q8IUC4
- B2RCG8
- B3KUY8
- B4DUS7
- Q8N3T7
- Q8N9D6
- Q8NE33
- Q96RU1
Protein attributes for RHPN2 Gene
- Size:
- 686 amino acids
- Molecular mass:
- 76993 Da
- Quaternary structure:
-
- Interacts with GTP-bound RhoA and RhoB. Interacts with both GTP- and GDP-bound RhoA. According to PubMed:12473120, it does not interact with RhoA. Interacts with KRT18.
Protein Expression for RHPN2 Gene
Post-translational modifications for RHPN2 Gene
Other Protein References for RHPN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RHPN2
- Novus Biologicals Antibodies for RHPN2
- Invitrogen Antibodies for RHPN2 (AFLGC-RHPN2)
- GeneTex RHPN2 Antibody for RHPN2
Protein Products
-
OriGene Purified Proteins for RHPN2
- Search Origene for MassSpec and Protein Over-expression Lysates for RHPN2
- Origene Custom Protein Services for RHPN2
- antibodies-online: Search results for 5 available RHPN2 Proteins ranked by validation data
- Compare Top RHPN2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for RHPN2
-
Abcam proteins for RHPN2
Assay Products
No data available for DME Specific Peptides for RHPN2 Gene
Domains & Families for RHPN2 Gene
Gene Families for RHPN2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RHPN2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RHPN2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IUC4- Family:
-
- Belongs to the RHPN family.
Function for RHPN2 Gene
Molecular function for RHPN2 Gene
- UniProtKB/Swiss-Prot Function:
- Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.
- UniProtKB/Swiss-Prot Induction:
- By thyrotropin (TSH). Regulated by the cAMP pathway.
Phenotypes From GWAS Catalog for RHPN2 Gene
Phenotypes for RHPN2 Gene
- MGI mutant phenotypes for RHPN2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RHPN2:
-
- Decreased shRNA abundance (Z-score < -2)
- G0/1 arrest
- Increased G1 DNA content
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Models for RHPN2 Gene
- MGI Knock Outs for RHPN2:
-
- Rhpn2 Rhpn2<tm1Ssch>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RHPN2
-
CRISPR Products
-
OriGene CRISPR knockouts for RHPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHPN2
- genomics-online: gRNA clones - Search results for 119 available RHPN2 gene related products
- Overview of 119 available RHPN2 gene related products
- Applied Biological Materials CRISPR for RHPN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHPN2
- GenScript: Design CRISPR guide RNA sequences for RHPN2
miRNA for RHPN2 Gene
- miRTarBase miRNAs that target RHPN2
-
- hsa-mir-32-5p (MIRT028291)
- hsa-mir-100-5p (MIRT048413)
- hsa-mir-1273g-3p (MIRT761981)
- hsa-mir-1285-3p (MIRT762217)
- hsa-mir-196a-3p (MIRT763511)
- hsa-mir-3120-3p (MIRT764780)
- hsa-mir-3187-5p (MIRT765320)
- hsa-mir-451b (MIRT769957)
- hsa-mir-4696 (MIRT771263)
- hsa-mir-4793-3p (MIRT772427)
- hsa-mir-508-5p (MIRT773188)
- hsa-mir-5189-5p (MIRT773570)
- hsa-mir-612 (MIRT775861)
- hsa-mir-6512-3p (MIRT776941)
- hsa-mir-661 (MIRT777457)
- hsa-mir-6720-5p (MIRT777787)
- hsa-mir-6849-3p (MIRT780338)
- hsa-mir-6860 (MIRT780569)
- hsa-mir-766-3p (MIRT781897)
- hsa-mir-7703 (MIRT782051)
- hsa-mir-939-3p (MIRT782836)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHPN2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHPN2
- genomics-online: shRNA clones - Search results for 119 available RHPN2 gene related products
- Overview of 119 available RHPN2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for RHPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHPN2
- Applied Biological Materials Clones for RHPN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RHPN2
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHPN2 Gene
Localization for RHPN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RHPN2 Gene
- Cytoplasm, perinuclear region.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0048471 | perinuclear region of cytoplasm | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHPN2 Gene
Pathways & Interactions for RHPN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by Rho GTPases | ||
| 2 | Actin Nucleation by ARP-WASP Complex |
.35
|
|
| 3 | RHO GTPases Activate Rhotekin and Rhophilins | ||
| 4 | Signaling by GPCR | ||
| 5 | G-protein signaling_RhoB regulation pathway | ||
Pathways by source for RHPN2 Gene
1 BioSystems pathway for RHPN2 Gene
4 Reactome pathways for RHPN2 Gene
1 GeneGo (Thomson Reuters) pathway for RHPN2 Gene
1 Qiagen pathway for RHPN2 Gene
Interacting Proteins for RHPN2 Gene
Selected Interacting proteins:
ENSP00000254260
Q8IUC4-RHPN2_HUMAN
for RHPN2 Gene via
STRING
MINT
IID
GPS-Prot Interaction Network for RHPN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
No data available for SIGNOR curated interactions for RHPN2 Gene
Transcripts for RHPN2 Gene
mRNA/cDNA for RHPN2 Gene
- (1) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (78) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000544458 3793 bps (uc060wsx.1)
- ENST00000254260 3500 bps (uc002nuf.4)
- ENST00000588388 2378 bps (uc060wsy.1)
- ENST00000588683 706 bps (uc060wsz.1)
- ENST00000592247 562 bps (uc060wta.1)
Unigene Clusters for RHPN2 Gene
- Rhophilin, Rho GTPase binding protein 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for RHPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHPN2
- genomics-online: gRNA clones - Search results for 119 available RHPN2 gene related products
- Overview of 119 available RHPN2 gene related products
- Applied Biological Materials CRISPR for RHPN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHPN2
- GenScript: Design CRISPR guide RNA sequences for RHPN2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHPN2
- Browse OriGene Inhibitory RNA Products For RHPN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHPN2
- genomics-online: shRNA clones - Search results for 119 available RHPN2 gene related products
- Overview of 119 available RHPN2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for RHPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHPN2
- Applied Biological Materials Clones for RHPN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RHPN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud Tip Cells Ureteric Bud
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Adult Endothelial Cells Blood Brain Barrier
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epithelial Cells
- Dental Placode Cells Dental Placode
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
This gene is overexpressed in Salivary gland (22.5), Stomach (17.4), Islet of Langerhans (11.1), and Retina (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RHPN2 Gene
NURSA nuclear receptor signaling pathways regulating expression of RHPN2 Gene:
RHPN2SOURCE GeneReport for Unigene cluster for RHPN2 Gene:
Hs.466435mRNA Expression by UniProt/SwissProt for RHPN2 Gene:
Q8IUC4-RHPN2_HUMAN
Tissue specificity:
Widely expressed. Highly expressed in prostate, trachea, stomach, colon, thyroid and pancreas. Expressed at lower level in brain, spinal cord, kidney, placenta and liver.
Evidence on tissue expression from TISSUES for RHPN2 Gene
- Nervous system(4.3)
- Kidney(4.2)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for RHPN2
-
OriGene qPCR primer pairs and template standards for RHPN2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHPN2 Gene
Orthologs for RHPN2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RHPN2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RHPN2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RHPN2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Rhpn2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rhpn2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RHPN2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RHPN2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RHPN2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RHPN2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rhpn2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2712 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rhpn2 34 33 |
|
OneToOne | |
| zgc55960 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000243 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Rhp 34 33 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RIM20 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for RHPN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- 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 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)
- worm (Caenorhabditis elegans)
Evolution for RHPN2 Gene
- ENSEMBL:
- Gene Tree for RHPN2 (if available)
- TreeFam:
- Gene Tree for RHPN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RHPN2: view image
Paralogs for RHPN2 Gene
Variants for RHPN2 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs79314177 | benign, not specified | 32,991,915(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs1000061065 | -- | 33,058,705(-) | G/A | intron_variant | |
| rs1000155298 | -- | 33,043,130(-) | T/G | intron_variant | |
| rs1000182262 | -- | 32,984,048(-) | A/C | intron_variant | |
| rs1000202682 | -- | 33,019,052(-) | G/A | intron_variant |
Residual Variation Intolerance Score:
97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.95;
96.80% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RHPN2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHPN2 Gene
Disorders for RHPN2 Gene
Additional Disease Information for RHPN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for RHPN2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHPN2 Gene
Publications for RHPN2 Gene
- The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization. (PMID: 12221077) Peck JW … Burbelo PD (The Journal of biological chemistry 2002) 2 3 4 22 58
- The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. (PMID: 20437058) Hawken SJ … Little J (Human genetics 2010) 3 44 58
- Low-penetrance susceptibility variants in familial colorectal cancer. (PMID: 20501757) Niittymäki I … Aaltonen LA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
- Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population. (PMID: 20530476) Xiong F … Lin D (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
- Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. (PMID: 20638935) Abulí A … Gastrointestinal Oncology Group of the Spanish Gastroenterological Association (Gastroenterology 2010) 3 44 58
Products for RHPN2 Gene
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- Quality Products:
- GeneTex RHPN2 Antibody for RHPN2
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- Overview of 119 available RHPN2 gene related products
- genomics-online: gRNA clones - Search results for 119 available RHPN2 gene related products
- Overview of 119 available RHPN2 gene related products
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- Overview of 119 available RHPN2 gene related products
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- Overview of 119 available RHPN2 gene related products
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Sources for RHPN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
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