KCNH7 Gene (Protein Coding)

Potassium Voltage-Gated Channel Subfamily H Member 7

GC02M162371
GIFtS:
41
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of... See more...

Aliases for KCNH7 Gene

Aliases for KCNH7 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 7 2 3 4 5
  • Ether-A-Go-Go-Related Gene Potassium Channel 3 3 4
  • Voltage-Gated Potassium Channel Subunit Kv11.3 3 4
  • Ether-A-Go-Go-Related Protein 3 3 4
  • Eag-Related Protein 3 3 4
  • ERG-3 3 4
  • ERG3 3 4
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 7 2
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 7 3
  • Potassium Channel Subunit HERG-3 3
  • Kv11.3 3
  • HERG-3 4
  • HERG3 3

External Ids for KCNH7 Gene

Previous GeneCards Identifiers for KCNH7 Gene

  • GC02M161281
  • GC02M161756
  • GC02M163191
  • GC02M163430
  • GC02M163053
  • GC02M162936
  • GC02M155110

Summaries for KCNH7 Gene

Entrez Gene Summary for KCNH7 Gene

  • Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNH7 Gene

KCNH7 (Potassium Voltage-Gated Channel Subfamily H Member 7) is a Protein Coding gene. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH2.

UniProtKB/Swiss-Prot Summary for KCNH7 Gene

  • Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.

Tocris Summary for KCNH7 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNH7 Gene

Additional gene information for KCNH7 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNH7 Gene

Genomics for KCNH7 Gene

GeneHancer (GH) Regulatory Elements for KCNH7 Gene

Promoters and enhancers for KCNH7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J162838 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.1 146 3.2 POLR2A ZNF335 HSALNG0020049 KCNH7 KCNH7-AS1
GH02J162722 Enhancer 0.3 FANTOM5 6.1 +116.1 116098 0.4 MAFK KCNH7 KCNH7-AS1 piR-31199-183
GH02J162621 Enhancer 0.2 FANTOM5 2 +217.3 217272 0.4 KCNH7 piR-31199-183 KCNH7-AS1
GH02J162366 Enhancer 0.2 FANTOM5 1.5 +472.2 472238 0.1 GCA KCNH7 piR-46501-057 RF00998-078
GH02J162821 Enhancer 0.6 ENCODE 0.4 +17.2 17180 0.9 GATA3 TCF7L2 ZNF217 FOSL2 CTBP1 ESRRA DPF2 FOXA1 FOS SMARCE1 KCNH7 KCNH7-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNH7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNH7 gene promoter:
  • E2F
  • E2F-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for KCNH7 Gene

Genomic Locations for KCNH7 Gene
chr2:162,371,407-162,838,747
(GRCh38/hg38)
Size:
467,341 bases
Orientation:
Minus strand
chr2:163,227,917-163,695,257
(GRCh37/hg19)
Size:
467,341 bases
Orientation:
Minus strand

Genomic View for KCNH7 Gene

Genes around KCNH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNH7 Gene

Proteins for KCNH7 Gene

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  • Protein details for KCNH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS40-KCNH7_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 7
    Protein Accession:
    Q9NS40
    Secondary Accessions:
    • Q53QU4
    • Q53TB7
    • Q53TP9
    • Q8IV15

    Protein attributes for KCNH7 Gene

    Size:
    1196 amino acids
    Molecular mass:
    135000 Da
    Quaternary structure:
    • The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH2/ERG1 and KCNH6/ERG2 (By similarity).
    SequenceCaution:
    • Sequence=AAD01946.1; Type=Frameshift; Positions=792, 795; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNH7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH7 Gene

Protein Expression for KCNH7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNH7 Gene

  • Glycosylation at Asn600
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNH7 Gene

Domains & Families for KCNH7 Gene

Gene Families for KCNH7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNH7 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNH7 Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated potassium channel subunit Kv11.3 (KCNH7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NS40

UniProtKB/Swiss-Prot:

KCNH7_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily.
genes like me logo Genes that share domains with KCNH7: view

Function for KCNH7 Gene

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Molecular function for KCNH7 Gene

UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.

Phenotypes From GWAS Catalog for KCNH7 Gene

Gene Ontology (GO) - Molecular Function for KCNH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA,IEA 21873635
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNH7: view
genes like me logo Genes that share phenotypes with KCNH7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH7

CRISPR Products

miRNA for KCNH7 Gene

miRTarBase miRNAs that target KCNH7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNH7 Gene

Localization for KCNH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH7 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNH7 gene
Compartment Confidence
plasma membrane 5
nucleus 1
cytosol 0

Gene Ontology (GO) - Cellular Components for KCNH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNH7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNH7 Gene

Pathways & Interactions for KCNH7 Gene

genes like me logo Genes that share pathways with KCNH7: view

Pathways by source for KCNH7 Gene

1 BioSystems pathway for KCNH7 Gene
1 Qiagen pathway for KCNH7 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0042391 regulation of membrane potential IBA 21873635
genes like me logo Genes that share ontologies with KCNH7: view

No data available for SIGNOR curated interactions for KCNH7 Gene

Drugs & Compounds for KCNH7 Gene

Products:

  1. Drug

(10) Drugs for KCNH7 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ibutilide Approved Pharma Target, inhibitor 8
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker, Channel blocker, Target, inhibitor 4108
Terazosin Approved Pharma Target, inhibitor α1-adrenergic receptor antagonist 25
Doxazosin Approved Pharma 65
Prazosin Approved Pharma Antagonist, Inverse agonist 74

(4) Tocris Compounds for KCNH7 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNH7: view

Transcripts for KCNH7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNH7 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - -
SP2:

Relevant External Links for KCNH7 Gene

GeneLoc Exon Structure for
KCNH7
ECgene alternative splicing isoforms for
KCNH7

Expression for KCNH7 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNH7 Gene

mRNA expression in normal human tissues for KCNH7 Gene
mRNA expression by GTEx for KCNH7 GenemRNA expression by BioGPS for KCNH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH7 Gene

This gene is overexpressed in Whole Blood (x19.4) and Testis (x5.0).

Protein differential expression in normal tissues from HIPED for KCNH7 Gene

This gene is overexpressed in Plasma (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNH7 Gene



Protein tissue co-expression partners for KCNH7 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNH7 Gene:

KCNH7

SOURCE GeneReport for Unigene cluster for KCNH7 Gene:

Hs.657413

mRNA Expression by UniProt/SwissProt for KCNH7 Gene:

Q9NS40-KCNH7_HUMAN
Tissue specificity: Expressed in prolactin-secreting adenomas.

Evidence on tissue expression from TISSUES for KCNH7 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KCNH7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNH7 Gene

Orthologs for KCNH7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KCNH7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNH7 33 32
  • 99.72 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNH7 33
  • 94 (a)
 OneToOne
LOC534542 32
  • 92.86 (n)
dog
(Canis familiaris)
 Mammalia KCNH7 33 32
  • 93.34 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia KCNH7 33
  • 92 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNH7 33
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kcnh7 17 33 32
  • 88.92 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnh7 32
  • 88.83 (n)
chicken
(Gallus gallus)
 Aves KCNH7 33 32
  • 80.38 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KCNH7 33
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnh7 32
  • 74.24 (n)
zebrafish
(Danio rerio)
 Actinopterygii si:dkey-240h6.1 32
  • 66.7 (n)
kcnh1a 33
  • 34 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007709 32
  • 61.86 (n)
fruit fly
(Drosophila melanogaster)
 Insecta sei 33
  • 48 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea unc-103 33 32
  • 58.59 (n)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons KAT1 32
  • 41.06 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0245800 32
  • 41.35 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 55 (a)
 OneToOne
Cin.12709 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.12709 32
Species where no ortholog for KCNH7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNH7 Gene

ENSEMBL:
Gene Tree for KCNH7 (if available)
TreeFam:
Gene Tree for KCNH7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNH7: view image

Paralogs for KCNH7 Gene

Paralogs for KCNH7 Gene

(4) SIMAP similar genes for KCNH7 Gene using alignment to 1 proteins:

  • KCNH7_HUMAN
genes like me logo Genes that share paralogs with KCNH7: view

Variants for KCNH7 Gene

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Sequence variations from dbSNP and Humsavar for KCNH7 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs78247304 uncertain-significance, not provided 162,446,391(-) C/T coding_sequence_variant, missense_variant
rs1000000202 -- 162,650,745(-) G/A intron_variant
rs1000000958 -- 162,610,384(-) T/C intron_variant
rs1000001799 -- 162,565,267(-) C/T intron_variant
rs1000003300 -- 162,691,570(-) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH7 Gene

Variant ID Type Subtype PubMed ID
dgv1178e212 CNV loss 25503493
dgv2080n106 CNV deletion 24896259
esv1006625 CNV deletion 20482838
esv2044759 CNV deletion 18987734
esv2130433 CNV deletion 18987734
esv2558699 CNV insertion 19546169
esv2596964 CNV deletion 19546169
esv2667624 CNV deletion 23128226
esv2721052 CNV deletion 23290073
esv2721053 CNV deletion 23290073
esv3305776 CNV mobile element insertion 20981092
esv3305830 CNV mobile element insertion 20981092
esv3308737 CNV mobile element insertion 20981092
esv3309576 CNV mobile element insertion 20981092
esv3309836 CNV mobile element insertion 20981092
esv3367914 CNV insertion 20981092
esv3388696 CNV insertion 20981092
esv3400400 CNV insertion 20981092
esv3419769 CNV insertion 20981092
esv3442969 CNV insertion 20981092
esv3560454 CNV deletion 23714750
esv3584144 CNV loss 25503493
esv3985 CNV loss 18987735
esv9501 CNV loss 19470904
nsv1072988 CNV deletion 25765185
nsv1116804 CNV deletion 24896259
nsv1127777 CNV deletion 24896259
nsv1151344 CNV deletion 26484159
nsv1160878 CNV deletion 26073780
nsv213705 CNV insertion 16902084
nsv214757 CNV deletion 16902084
nsv3011 CNV insertion 18451855
nsv583520 CNV loss 21841781
nsv583521 CNV loss 21841781
nsv583522 CNV loss 21841781
nsv583523 CNV loss 21841781
nsv955279 CNV deletion 24416366
nsv956648 CNV deletion 24416366

Variation tolerance for KCNH7 Gene

Residual Variation Intolerance Score: 3.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNH7 Gene

Human Gene Mutation Database (HGMD)
KCNH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNH7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH7 Gene

Disorders for KCNH7 Gene

Additional Disease Information for KCNH7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KCNH7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNH7 Gene

Publications for KCNH7 Gene

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 43 56
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  4. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. (PMID: 20953190) Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2 … Trembath RC (Nature genetics 2010) 3 43 56
  5. IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients. (PMID: 19156166) Couturier N … Brassat D (European journal of human genetics : EJHG 2009) 3 43 56

ExternalLinks

View latest publications for KCNH7 gene in Mastermind

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