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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
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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

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