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    CHST12 carbohydrate sulfotransferase 12 [ Homo sapiens (human) ]

    Gene ID: 55501, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CHST12provided by HGNC
    Official Full Name
    carbohydrate sulfotransferase 12provided by HGNC
    Primary source
    HGNC:HGNC:17423
    See related
    Ensembl:ENSG00000136213 MIM:610129; AllianceGenome:HGNC:17423
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C4S-2; C4ST2; C4ST-2
    Summary
    The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in fat (RPKM 6.6), spleen (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHST12 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2403448..2448484)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2516863..2561873)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2443246..2488119)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2429085-2429981 Neighboring gene kinesin family member 19B, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr7.493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17870 Neighboring gene NGRN pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2471770-2472662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2472663-2473554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2482261-2482761 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2488098-2488281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2490871-2491526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2491527-2492180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2510727-2511330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2513557-2514102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17873 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2518193-2518788 Neighboring gene galectin-related inter-fiber protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2526820-2527704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2534319-2535080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2538982-2539948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2539949-2540914 Neighboring gene uncharacterized LOC107986759 Neighboring gene nonconserved acetylation island sequence 106 enhancer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Knockdown of carbohydrate sulfotransferase 12 decreases the proliferation and mobility of glioblastoma cells via the WNT/β-catenin pathway. Wang J, et al. Bioengineered, 2021 Dec. PMID 34288811, Free PMC Article
    2. Natural frequency of polymorphisms linked to the chondroitin 4-sulfotransferase genes and its association with placental malaria. Valente B, et al. Trans R Soc Trop Med Hyg, 2010 Oct. PMID 20580388
    3. Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis. Mikami T, et al. J Biol Chem, 2003 Sep 19. PMID 12847091
    4. CHST11/13 Regulate the Metastasis and Chemosensitivity of Human Hepatocellular Carcinoma Cells Via Mitogen-Activated Protein Kinase Pathway. Zhou H, et al. Dig Dis Sci, 2016 Jul. PMID 26993826
    5. Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease. Lei J, et al. Histochem Cell Biol, 2020 Mar. PMID 31845005

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of carbohydrate sulfotransferase 12 decreases the proliferation and mobility of glioblastoma cells via the WNT/beta-catenin pathway.
      Title: Knockdown of carbohydrate sulfotransferase 12 decreases the proliferation and mobility of glioblastoma cells via the WNT/β-catenin pathway.
    2. Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.
      Title: Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.
    3. These results have demonstrated that CHST11 and CHST13 negatively modulate metastasis and drug resistance of HCC cells probably via oncogenic MAPK signal pathway.
      Title: CHST11/13 Regulate the Metastasis and Chemosensitivity of Human Hepatocellular Carcinoma Cells Via Mitogen-Activated Protein Kinase Pathway.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Natural frequency of polymorphisms linked to the chondroitin 4-sulfotransferase genes and its association with placental malaria.
    5. human D4ST-1, C4ST-1, and S4ST-2 have differential roles in dermatan sulfate biosynthesis
      Title: Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00049, AC004840.9

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-phosphoadenosine 5'-phosphosulfate binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables chondroitin 4-sulfotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chondroitin 4-sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondroitin sulfate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chondroitin sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in dermatan sulfate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    carbohydrate sulfotransferase 12
    Names
    carbohydrate (chondroitin 4) sulfotransferase 12
    chondroitin 4-O-sulfotransferase 2
    chondroitin 4-sulfotransferase 2
    sulfotransferase Hlo
    NP_001230723.1
    NP_001230724.1
    NP_061111.1
    XP_011513745.1
    XP_011513746.1
    XP_047276527.1
    XP_054214556.1
    XP_054214557.1
    XP_054214558.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029854.2 RefSeqGene

      Range
      5165..50038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243794.2 → NP_001230723.1  carbohydrate sulfotransferase 12

      See identical proteins and their annotated locations for NP_001230723.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC004840, AF239822, AY358574, BC095492
      Consensus CDS
      CCDS5333.1
      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
      Related
      ENSP00000258711.6, ENST00000258711.7
      Conserved Domains (1) summary
      pfam03567
      Location:160 → 405
      Sulfotransfer_2; Sulfotransferase family

    2. NM_001243795.2 → NP_001230724.1  carbohydrate sulfotransferase 12

      See identical proteins and their annotated locations for NP_001230724.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal non-coding exon, hence has a slightly longer 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC004840, AF239822, AY358574, DA078292
      Consensus CDS
      CCDS5333.1
      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
      Conserved Domains (1) summary
      pfam03567
      Location:160 → 405
      Sulfotransfer_2; Sulfotransferase family

    3. NM_018641.5 → NP_061111.1  carbohydrate sulfotransferase 12

      See identical proteins and their annotated locations for NP_061111.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate donor splice site at the 5' terminal non-coding exon, hence has a slightly longer 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC004840, AF239822, AY358574, DA704587
      Consensus CDS
      CCDS5333.1
      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
      Related
      ENSP00000481912.1, ENST00000618655.2
      Conserved Domains (1) summary
      pfam03567
      Location:160 → 405
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      2403448..2448484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515444.3 → XP_011513746.1  carbohydrate sulfotransferase 12 isoform X2

      See identical proteins and their annotated locations for XP_011513746.1

      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
      Conserved Domains (1) summary
      pfam03567
      Location:160 → 405
      Sulfotransfer_2; Sulfotransferase family

    2. XM_047420571.1 → XP_047276527.1  carbohydrate sulfotransferase 12 isoform X1

    3. XM_011515443.3 → XP_011513745.1  carbohydrate sulfotransferase 12 isoform X2

      See identical proteins and their annotated locations for XP_011513745.1

      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
      Conserved Domains (1) summary
      pfam03567
      Location:160 → 405
      Sulfotransfer_2; Sulfotransferase family

    RNA

    1. XR_007060070.1 RNA Sequence

    2. XR_007060074.1 RNA Sequence

    3. XR_007060066.1 RNA Sequence

    4. XR_007060067.1 RNA Sequence

    5. XR_007060073.1 RNA Sequence

    6. XR_007060068.1 RNA Sequence

    7. XR_007060069.1 RNA Sequence

    8. XR_007060072.1 RNA Sequence

    9. XR_007060071.1 RNA Sequence

    10. XR_007060065.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      2516863..2561873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358583.1 → XP_054214558.1  carbohydrate sulfotransferase 12 isoform X2

      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7

    2. XM_054358581.1 → XP_054214556.1  carbohydrate sulfotransferase 12 isoform X1

    3. XM_054358582.1 → XP_054214557.1  carbohydrate sulfotransferase 12 isoform X2

      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7

    RNA

    1. XR_008487659.1 RNA Sequence

    2. XR_008487658.1 RNA Sequence

    3. XR_008487663.1 RNA Sequence

    4. XR_008487654.1 RNA Sequence

    5. XR_008487655.1 RNA Sequence

    6. XR_008487662.1 RNA Sequence

    7. XR_008487656.1 RNA Sequence

    8. XR_008487657.1 RNA Sequence

    9. XR_008487660.1 RNA Sequence

    10. XR_008487661.1 RNA Sequence

    11. XR_008487653.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRB3.2 GenPept UniProtKB/Swiss-Prot:Q9NRB3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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