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    CHST12 carbohydrate sulfotransferase 12 [ Homo sapiens (human) ]

    Gene ID: 55501, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001243794.2NP_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:160405
      Sulfotransfer_2; Sulfotransferase family
    2. NM_001243795.2NP_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:160405
      Sulfotransfer_2; Sulfotransferase family
    3. NM_018641.5NP_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:160405
      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_011515444.3XP_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:160405
      Sulfotransfer_2; Sulfotransferase family
    2. XM_047420571.1XP_047276527.1  carbohydrate sulfotransferase 12 isoform X1

      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
    3. XM_011515443.3XP_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:160405
      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_054358583.1XP_054214558.1  carbohydrate sulfotransferase 12 isoform X2

      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
    2. XM_054358581.1XP_054214556.1  carbohydrate sulfotransferase 12 isoform X1

      UniProtKB/TrEMBL
      Q53FS1, Q53FU0
    3. XM_054358582.1XP_054214557.1  carbohydrate sulfotransferase 12 isoform X2

      UniProtKB/Swiss-Prot
      A4D1Z9, Q502W3, Q9NRB3, Q9NXY7
      UniProtKB/TrEMBL
      Q53FS1, Q53FU0

    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