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Aliases for GALNT12 Gene

Aliases for GALNT12 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 12 2 3 5
  • Polypeptide GalNAc Transferase 12 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 12 (GalNAc-T12) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 12 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 12 3 4
  • Pp-GaNTase 12 3 4
  • EC 2.4.1.41 4 56
  • GalNAc-T12 3 4
  • Colorectal Cancer, Susceptibility To 1 3
  • CRCS1 3

External Ids for GALNT12 Gene

Previous GeneCards Identifiers for GALNT12 Gene

  • GC09P092385
  • GC09P093313
  • GC09P095027
  • GC09P096949
  • GC09P098649
  • GC09P100609
  • GC09P101569
  • GC09P071168

Summaries for GALNT12 Gene

Entrez Gene Summary for GALNT12 Gene

  • This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]

GeneCards Summary for GALNT12 Gene

GALNT12 (Polypeptide N-Acetylgalactosaminyltransferase 12) is a Protein Coding gene. Diseases associated with GALNT12 include Colorectal Cancer 1 and Familial Colorectal Cancer Type X. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is POC1B-GALNT4.

UniProtKB/Swiss-Prot for GALNT12 Gene

  • Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.

Additional gene information for GALNT12 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT12 Gene

Genomics for GALNT12 Gene

GeneHancer (GH) Regulatory Elements for GALNT12 Gene

Promoters and enhancers for GALNT12 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
GH09I098806 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 552.8 +1.5 1463 5.1 ATF1 FEZF1 ZNF121 GLIS2 FOS ATF7 SP3 GMEB1 MYNN HMBOX1 GALNT12 ANKS6 GC09P098862
GH09I098805 Enhancer 0.8 Ensembl ENCODE 550.8 -1.8 -1846 0.9 CTCF HLF CEBPB CEBPG DPF2 GATA3 ZFHX2 FOS EGR2 GALNT12 ANKS6
GH09I098848 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.8 +41.0 40988 1.2 ATF1 FOXA2 MLX ARNT ARID4B ZNF48 ZNF766 E2F8 ARID2 ZNF143 GALNT12 COL15A1 GC09P098862 LOC102724684
GH09I098905 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.3 +100.4 100374 4.7 BCOR HDAC1 NFIB ZMYM3 CEBPG FOSL1 GLIS2 ZNF316 VEZF1 TRIM24 COL15A1 GALNT12 TRMO LOC100288125
GH09I098916 Enhancer 1.2 Ensembl ENCODE dbSUPER 10 +109.7 109696 2 HDAC1 LEF1 TAL1 ZBTB40 RELA CTBP1 ZNF766 MTA3 VEZF1 ZSCAN29 COL15A1 GALNT12 LOC100288125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GALNT12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT12 gene promoter:

Genomic Locations for GALNT12 Gene

Genomic Locations for GALNT12 Gene
chr9:98,807,699-98,850,081
(GRCh38/hg38)
Size:
42,383 bases
Orientation:
Plus strand
chr9:101,569,981-101,612,363
(GRCh37/hg19)

Genomic View for GALNT12 Gene

Genes around GALNT12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT12 Gene

Proteins for GALNT12 Gene

  • Protein details for GALNT12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXK2-GLT12_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 12
    Protein Accession:
    Q8IXK2
    Secondary Accessions:
    • Q5TCF7
    • Q8NG54
    • Q96CT9
    • Q9H771

    Protein attributes for GALNT12 Gene

    Size:
    581 amino acids
    Molecular mass:
    66938 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15027.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GALNT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT12 Gene

Selected DME Specific Peptides for GALNT12 Gene

Q8IXK2:
  • RAAEVWMD
  • MAGGLFA
  • VVCPVID
  • SFRIWQCGG
  • SDREHLK
  • PTMAGGL
  • WGGENLE
  • GWLEPLL

Post-translational modifications for GALNT12 Gene

No Post-translational modifications

Other Protein References for GALNT12 Gene

Domains & Families for GALNT12 Gene

Gene Families for GALNT12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GALNT12 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IXK2

UniProtKB/Swiss-Prot:

GLT12_HUMAN :
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Domain:
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT12: view

Function for GALNT12 Gene

Molecular function for GALNT12 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
UniProtKB/Swiss-Prot Function:
Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.

Enzyme Numbers (IUBMB) for GALNT12 Gene

Phenotypes From GWAS Catalog for GALNT12 Gene

Gene Ontology (GO) - Molecular Function for GALNT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNT12: view
genes like me logo Genes that share phenotypes with GALNT12: view

miRNA for GALNT12 Gene

miRTarBase miRNAs that target GALNT12

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALNT12 Gene

Localization for GALNT12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT12 Gene

Golgi apparatus membrane; Single-pass type II 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 GALNT12 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GALNT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GALNT12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GALNT12 Gene

Pathways & Interactions for GALNT12 Gene

genes like me logo Genes that share pathways with GALNT12: view

Pathways by source for GALNT12 Gene

UniProtKB/Swiss-Prot Q8IXK2-GLT12_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT12: view

No data available for SIGNOR curated interactions for GALNT12 Gene

Drugs & Compounds for GALNT12 Gene

(3) Drugs for GALNT12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Manganese Approved Nutra 37
Uridine-5'-Diphosphate Experimental Pharma 0

(3) Additional Compounds for GALNT12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT12: view

Transcripts for GALNT12 Gene

Unigene Clusters for GALNT12 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT12 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: - - -
SP2: -
SP3: - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for GALNT12 Gene

GeneLoc Exon Structure for
GALNT12
ECgene alternative splicing isoforms for
GALNT12

Expression for GALNT12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT12 Gene

mRNA differential expression in normal tissues according to GTEx for GALNT12 Gene

This gene is overexpressed in Colon - Transverse (x6.7), Brain - Cerebellum (x4.4), Brain - Cerebellar Hemisphere (x4.2), and Stomach (x4.0).

Protein differential expression in normal tissues from HIPED for GALNT12 Gene

This gene is overexpressed in Adipocyte (42.2) and Esophagus (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GALNT12 Gene



NURSA nuclear receptor signaling pathways regulating expression of GALNT12 Gene:

GALNT12

SOURCE GeneReport for Unigene cluster for GALNT12 Gene:

Hs.47099

mRNA Expression by UniProt/SwissProt for GALNT12 Gene:

Q8IXK2-GLT12_HUMAN
Tissue specificity: Widely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart, skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate.

Evidence on tissue expression from TISSUES for GALNT12 Gene

  • Intestine(4.4)
  • Lung(4.2)
  • Bone marrow(4)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with GALNT12: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT12 Gene

Orthologs for GALNT12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GALNT12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT12 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia GALNT12 33 34
  • 90.25 (n)
cow
(Bos Taurus)
Mammalia GALNT12 33 34
  • 87.77 (n)
mouse
(Mus musculus)
Mammalia Galnt12 33 16 34
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Galnt12 33
  • 83.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT12 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT12 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT12 33 34
  • 75.45 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT12 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt12 33
  • 68.86 (n)
zebrafish
(Danio rerio)
Actinopterygii galnt12 33 34
  • 68.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4670 34
  • 56 (a)
OneToMany
Species where no ortholog for GALNT12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 GALNT12 Gene

ENSEMBL:
Gene Tree for GALNT12 (if available)
TreeFam:
Gene Tree for GALNT12 (if available)

Paralogs for GALNT12 Gene

Variants for GALNT12 Gene

Sequence variations from dbSNP and Humsavar for GALNT12 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1014512076 likely-benign, Hereditary cancer-predisposing syndrome 98,823,361(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1060504772 likely-benign, not specified, Hereditary cancer-predisposing syndrome 98,807,842(+) C/G coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs10987768 benign, Hereditary cancer-predisposing syndrome 98,807,834(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs112898261 benign, likely-benign, not specified, Hereditary cancer-predisposing syndrome 98,849,023(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs1137654 benign, Hereditary cancer-predisposing syndrome 98,808,054(+) A/G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT12 Gene

Variant ID Type Subtype PubMed ID
nsv825010 CNV gain 20364138
nsv825009 CNV loss 20364138
nsv614936 CNV gain 21841781
nsv1126914 CNV deletion 24896259
esv3621214 CNV gain 21293372

Variation tolerance for GALNT12 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT12 Gene

Human Gene Mutation Database (HGMD)
GALNT12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT12 Gene

Disorders for GALNT12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GALNT12 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
familial colorectal cancer type x
  • fcctx
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLT12_HUMAN
  • Colorectal cancer 1 (CRCS1) [MIM:608812]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:19617566, ECO:0000269 PubMed:22461326, ECO:0000269 PubMed:24115450}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450). {ECO:0000269 PubMed:24115450}.

Additional Disease Information for GALNT12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GALNT12: view

No data available for Genatlas for GALNT12 Gene

Publications for GALNT12 Gene

  1. Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. (PMID: 19617566) Guda K … Markowitz SD (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 44 58
  2. Molecular cloning and characterization of a novel member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12. (PMID: 12135769) Guo JM … Narimatsu H (FEBS letters 2002) 2 3 4 58
  3. GALNT12 is not a major contributor of familial colorectal cancer type X. (PMID: 24115450) Seguí N … Valle L (Human mutation 2014) 3 4 58
  4. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. (PMID: 22461326) Clarke E … Woods MO (Human mutation 2012) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for GALNT12 Gene

Sources for GALNT12 Gene

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