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Aliases for CACNB4 Gene

Aliases for CACNB4 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 2 3 5
  • Calcium Channel Voltage-Dependent Subunit Beta 4 3 4
  • CACNLB4 3 4
  • CAB4 3 4
  • Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-4 Subunit 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-4 3
  • Calcium Channel, Voltage-Dependent, Beta 4 Subunit 2
  • EIG9 3
  • EJM4 3
  • EJM6 3
  • EA5 3
  • EJM 3

External Ids for CACNB4 Gene

Previous GeneCards Identifiers for CACNB4 Gene

  • GC02M150446
  • GC02M151224
  • GC02M152659
  • GC02M152897
  • GC02M152520
  • GC02M152402
  • GC02M144575
  • GC02M152689

Summaries for CACNB4 Gene

Entrez Gene Summary for CACNB4 Gene

  • This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]

GeneCards Summary for CACNB4 Gene

CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4) is a Protein Coding gene. Diseases associated with CACNB4 include Episodic Ataxia, Type 5 and Epilepsy, Idiopathic Generalized 9. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Fc-GammaR Pathway. GO annotations related to this gene include protein kinase binding and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB2.

UniProtKB/Swiss-Prot for CACNB4 Gene

  • The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Gene Wiki entry for CACNB4 Gene

Additional gene information for CACNB4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB4 Gene

Genomics for CACNB4 Gene

Regulatory Elements for CACNB4 Gene

Enhancers for CACNB4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H152062 0.9 Ensembl ENCODE 19 +37.2 37210 1 EBF1 DPF2 RELA IKZF1 EED IKZF2 CREM RUNX3 CACNB4 ENSG00000225214 STAM2 ENSG00000283228
GH02H152037 0.7 Ensembl ENCODE 19.1 +61.7 61650 1 POLR2A FEZF1 PRDM10 CACNB4 ENSG00000225214 RIF1 ENSG00000283228
GH02H151994 1 ENCODE 9.3 +104.3 104292 2 FOXA2 MLX ARID4B DMAP1 SLC30A9 SP5 ZHX2 NFYC MIER2 PPARG CACNB4 STAM2 ENSG00000283228 ENSG00000225214
GH02H152054 0.6 ENCODE 12.7 +44.8 44773 1 MAFG BATF RFX5 FOSL1 JUND NFE2 CREM RUNX3 ENSG00000225214 CACNB4 RIF1 STAM2 ENSG00000283228
GH02H152025 1.2 Ensembl ENCODE 5.4 +74.1 74093 0 HDAC1 ELF3 ATF1 RB1 ARNT ARID4B ZNF2 THRB RAD21 RARA CACNB4 ENSG00000283228 ENSG00000225214
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNB4 on UCSC Golden Path with GeneCards custom track

Promoters for CACNB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124694 1488 1401 KLF17 GLIS2 EGR1 ZNF366 RCOR1 KLF7 RUNX3 EGR2 SP3 ZEB2

Genomic Location for CACNB4 Gene

Chromosome:
2
Start:
151,832,768 bp from pter
End:
152,099,988 bp from pter
Size:
267,221 bases
Orientation:
Minus strand

Genomic View for CACNB4 Gene

Genes around CACNB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNB4 Gene

Proteins for CACNB4 Gene

  • Protein details for CACNB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00305-CACB4_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-4
    Protein Accession:
    O00305
    Secondary Accessions:
    • A7BJ74
    • A8K1Y4
    • B4DG40
    • O60515
    • Q6B000
    • Q96L40

    Protein attributes for CACNB4 Gene

    Size:
    520 amino acids
    Molecular mass:
    58169 Da
    Quaternary structure:
    • The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma (PubMed:11880487). Interacts with FASLG (PubMed:19807924). Interacts with CBARP (By similarity).

    Three dimensional structures from OCA and Proteopedia for CACNB4 Gene

    Alternative splice isoforms for CACNB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNB4 Gene

Post-translational modifications for CACNB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CACNB4 Gene

Domains & Families for CACNB4 Gene

Gene Families for CACNB4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

O00305

UniProtKB/Swiss-Prot:

CACB4_HUMAN :
  • Belongs to the calcium channel beta subunit family.
Family:
  • Belongs to the calcium channel beta subunit family.
genes like me logo Genes that share domains with CACNB4: view

Function for CACNB4 Gene

Molecular function for CACNB4 Gene

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC) beta 4 regulatory subunit,55kDa,expressed in brain,cerebellum,kidney,testis,retina,lymphoblasts and circulating lymphocytes,ortholog of the mouse epilepsy gene lethargic
UniProtKB/Swiss-Prot Function:
The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Phenotypes From GWAS Catalog for CACNB4 Gene

Gene Ontology (GO) - Molecular Function for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 contributes_to voltage-gated calcium channel activity IDA,IEA 16525042
GO:0005262 calcium channel activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0008331 high voltage-gated calcium channel activity IBA --
genes like me logo Genes that share ontologies with CACNB4: view
genes like me logo Genes that share phenotypes with CACNB4: view

Human Phenotype Ontology for CACNB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CACNB4 Gene

miRTarBase miRNAs that target CACNB4

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CACNB4 Gene

Localization for CACNB4 Gene

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 CACNB4 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA,IDA 16525042
GO:0009898 cytoplasmic side of plasma membrane TAS 16385006
genes like me logo Genes that share ontologies with CACNB4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CACNB4 Gene

Pathways & Interactions for CACNB4 Gene

genes like me logo Genes that share pathways with CACNB4: view

Gene Ontology (GO) - Biological Process for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9628818
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission IBA --
GO:0007528 neuromuscular junction development IBA --
genes like me logo Genes that share ontologies with CACNB4: view

No data available for SIGNOR curated interactions for CACNB4 Gene

Drugs & Compounds for CACNB4 Gene

(13) Drugs for CACNB4 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nimodipine Approved Pharma Potentiation, Activator, Target, inhibitor 27
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 130
Safinamide Approved Pharma inhibitor MAO-B inhibitor 0
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0

(1) Additional Compounds for CACNB4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)

(2) ApexBio Compounds for CACNB4 Gene

Compound Action Cas Number
Nimodipine 66085-59-4
Safinamide MAO-B inhibitor 133865-89-1
genes like me logo Genes that share compounds with CACNB4: view

Drug Products

Transcripts for CACNB4 Gene

mRNA/cDNA for CACNB4 Gene

Unigene Clusters for CACNB4 Gene

Calcium channel, voltage-dependent, beta 4 subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNB4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: - -
SP2: -
SP3: -

Relevant External Links for CACNB4 Gene

GeneLoc Exon Structure for
CACNB4
ECgene alternative splicing isoforms for
CACNB4

Expression for CACNB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNB4 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.5), Brain - Cerebellum (x6.1), Brain - Nucleus accumbens (basal ganglia) (x4.6), Brain - Frontal Cortex (BA9) (x4.4), Brain - Caudate (basal ganglia) (x4.3), and Brain - Putamen (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for CACNB4 Gene

This gene is overexpressed in Plasma (19.7), Monocytes (16.7), Frontal cortex (15.2), and Platelet (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNB4 Gene



Protein tissue co-expression partners for CACNB4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACNB4 Gene:

CACNB4

SOURCE GeneReport for Unigene cluster for CACNB4 Gene:

Hs.120725

mRNA Expression by UniProt/SwissProt for CACNB4 Gene:

O00305-CACB4_HUMAN
Tissue specificity: Expressed predominantly in the cerebellum and kidney.

Evidence on tissue expression from TISSUES for CACNB4 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNB4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CACNB4: view

Primer Products

Orthologs for CACNB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNB4 33 34
  • 99.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB4 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNB4 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB4 33 34
  • 93.56 (n)
cow
(Bos Taurus)
Mammalia CACNB4 33 34
  • 93.53 (n)
rat
(Rattus norvegicus)
Mammalia Cacnb4 33
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Cacnb4 33 16 34
  • 90.09 (n)
chicken
(Gallus gallus)
Aves CACNB4 33 34
  • 85.28 (n)
lizard
(Anolis carolinensis)
Reptilia CACNB4 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb4 33
  • 81.67 (n)
zebrafish
(Danio rerio)
Actinopterygii cacnb4b 34
  • 81 (a)
OneToMany
cacnb4a 33 34
  • 74.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 35
  • 65 (a)
Ca-beta 33 34
  • 62.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008028 33
  • 61.94 (n)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 35 33 34
  • 63.2 (n)
W10C8.1 35
  • 29 (a)
Species where no ortholog for CACNB4 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CACNB4 Gene

ENSEMBL:
Gene Tree for CACNB4 (if available)
TreeFam:
Gene Tree for CACNB4 (if available)

Paralogs for CACNB4 Gene

Paralogs for CACNB4 Gene

(3) SIMAP similar genes for CACNB4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CACNB4: view

Variants for CACNB4 Gene

Sequence variations from dbSNP and Humsavar for CACNB4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1805031 Pathogenic, Episodic ataxia 5 (EA5) [MIM:613855] 151,880,879(-) CTACT(G/T)CGGCG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1057518688 Pathogenic 151,870,850(-) AGAAG(-/C)AAAAA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs111999910 Likely benign 151,838,591(+) TTAAG(A/C/T)GTAAA nc-transcript-variant, utr-variant-3-prime
rs112989362 Likely benign 151,837,835(+) TTAAA(A/C)ATGCT nc-transcript-variant, utr-variant-3-prime
rs113319414 Likely benign 151,837,210(+) CACAT(A/G)TTAAC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CACNB4 Gene

Variant ID Type Subtype PubMed ID
dgv2059n106 CNV tandem duplication 24896259
dgv2060n106 CNV deletion 24896259
dgv2061n106 CNV tandem duplication 24896259
esv1010582 CNV deletion 20482838
esv2076247 CNV deletion 18987734
esv2649483 CNV deletion 19546169
esv2661033 CNV deletion 23128226
esv2678545 CNV deletion 23128226
esv2720961 CNV deletion 23290073
esv2720963 CNV deletion 23290073
esv2720964 CNV deletion 23290073
esv3302843 CNV tandem duplication 20981092
esv34659 CNV loss 17911159
esv3560356 CNV deletion 23714750
esv3592922 CNV loss 21293372
esv3592924 CNV loss 21293372
esv3592925 CNV loss 21293372
esv3592926 CNV loss 21293372
esv3592927 CNV loss 21293372
esv3592929 CNV loss 21293372
esv3592930 CNV gain 21293372
esv3709 CNV loss 18987735
esv992466 CNV deletion 20482838
nsv1135879 CNV deletion 24896259
nsv1142311 CNV deletion 24896259
nsv1153071 CNV deletion 26484159
nsv1153175 CNV deletion 26484159
nsv7331 OTHER inversion 18451855

Variation tolerance for CACNB4 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 15.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNB4 Gene

Human Gene Mutation Database (HGMD)
CACNB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB4 Gene

Disorders for CACNB4 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CACNB4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
episodic ataxia, type 5
  • episodic ataxia type 5
epilepsy, idiopathic generalized 9
  • epilepsy, juvenile myoclonic 6
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
cacnb4-related juvenile myoclonic epilepsy
episodic ataxia
  • isaacs syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CACB4_HUMAN
  • Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269 PubMed:10762541}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. {ECO:0000269 PubMed:10762541}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269 PubMed:10762541}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CACNB4

Genetic Association Database (GAD)
CACNB4
Human Genome Epidemiology (HuGE) Navigator
CACNB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNB4
genes like me logo Genes that share disorders with CACNB4: view

No data available for Genatlas for CACNB4 Gene

Publications for CACNB4 Gene

  1. Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. (PMID: 9628818) Escayg A … Meisler MH (Genomics 1998) 2 3 4 22 60
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 60
  3. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. (PMID: 18755274) Ohmori I … Matsui H (Neurobiology of disease 2008) 3 45 60
  4. The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit. (PMID: 17618603) Kobayashi T … Tohse N (Biochemical and biophysical research communications 2007) 3 4 60
  5. Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit. (PMID: 16385006) Vendel AC … Horne WA (Protein science : a publication of the Protein Society 2006) 3 4 60

Products for CACNB4 Gene

Sources for CACNB4 Gene

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