U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 55454, updated on 5-Mar-2024

    Summary

    Official Symbol
    CSGALNACT2provided by HGNC
    Official Full Name
    chondroitin sulfate N-acetylgalactosaminyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:24292
    See related
    Ensembl:ENSG00000169826 MIM:616616; AllianceGenome:HGNC:24292
    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
    CHGN2; ChGn-2; PRO0082; GALNACT2; GALNACT-2; beta4GalNAcT
    Summary
    This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in bone marrow (RPKM 48.3), gall bladder (RPKM 16.8) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10q11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43138445..43185308)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44015942..44064232)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43633893..43680756)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RET 5' regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43572872-43573862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43580156-43580656 Neighboring gene VISTA enhancer hs2326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43596873-43597372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43600219-43600970 Neighboring gene RET intron 1 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3282 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:43604510-43604673 Neighboring gene ret proto-oncogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3286 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:43625782-43626382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43626383-43626983 Neighboring gene CSGALNACT2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2318 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:43655229-43656428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_12290 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:43686663-43686892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43696895-43697396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43700051-43700884 Neighboring gene RasGEF domain family member 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43707013-43707615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43711759-43712514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43712515-43713270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43723488-43724298 Neighboring gene uncharacterized LOC107984225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43726130-43726684 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_12309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43744792-43745584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43745585-43746376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43754815-43755598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43761143-43762018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43778224-43778748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43781282-43781790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43789145-43789646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43789647-43790146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43812626-43813176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43813177-43813727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43813728-43814277 Neighboring gene uncharacterized LOC105378271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43815195-43816027 Neighboring gene long intergenic non-protein coding RNA 2633

    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
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    EBI GWAS Catalog
    Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ43310, MGC40204, DKFZp686H13226

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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

    Preferred Names
    chondroitin sulfate N-acetylgalactosaminyltransferase 2
    Names
    beta 4 GalNAcT-2
    chondroitin beta1,4 N-acetylgalactosaminyltransferase 2
    glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase 2
    NP_001306583.1
    NP_001306585.1
    NP_061060.3
    XP_011538240.1
    XP_016871877.1
    XP_016871880.1
    XP_047281394.1
    XP_047281395.1
    XP_047281396.1
    XP_047281397.1
    XP_054222214.1
    XP_054222215.1
    XP_054222216.1
    XP_054222217.1
    XP_054222218.1
    XP_054222219.1
    XP_054222220.1

    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.

    mRNA and Protein(s)

    1. NM_001319654.1NP_001306583.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1. The 5' UTR is incomplete because no 5'-complete transcripts exist for this variant, and there is splice pattern ambiguity further upstream.
      Source sequence(s)
      AA721408, AK074474, AK125300, KU178705
      UniProtKB/TrEMBL
      A0A0S2Z5K4
      Conserved Domains (1) summary
      cl11394
      Location:122389
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    2. NM_001319656.1NP_001306585.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1. The 5' UTR is incomplete because no 5'-complete transcripts exist for this variant, and there is splice pattern ambiguity further upstream.
      Source sequence(s)
      AA721408, AK074474, AK125300, KU178706
      UniProtKB/TrEMBL
      A0A0S2Z5F9
      Conserved Domains (1) summary
      cl11394
      Location:122327
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    3. NM_018590.5NP_061060.3  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_061060.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC030268, BX102005, DA674683, DB291068
      Consensus CDS
      CCDS7201.1
      UniProtKB/Swiss-Prot
      B3KWL7, Q6MZJ5, Q6MZP6, Q8N6G5, Q8TCH4, Q9P1I6
      UniProtKB/TrEMBL
      A0A0S2Z5F5
      Related
      ENSP00000363590.3, ENST00000374466.4
      Conserved Domains (1) summary
      cl11394
      Location:122516
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    RNA

    1. NR_135077.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA721408, BX640967, CT003455, DB291068

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      43138445..43185308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016388.3XP_016871877.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5K4
      Conserved Domains (1) summary
      cl11394
      Location:122389
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    2. XM_011539938.3XP_011538240.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X5

      Conserved Domains (1) summary
      cl11394
      Location:140414
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    3. XM_047425440.1XP_047281396.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X3

    4. XM_017016391.3XP_016871880.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X4

    5. XM_047425439.1XP_047281395.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWL7, Q6MZJ5, Q6MZP6, Q8N6G5, Q8TCH4, Q9P1I6
      UniProtKB/TrEMBL
      A0A0S2Z5F5
    6. XM_047425441.1XP_047281397.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5K4
    7. XM_047425438.1XP_047281394.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWL7, Q6MZJ5, Q6MZP6, Q8N6G5, Q8TCH4, Q9P1I6
      UniProtKB/TrEMBL
      A0A0S2Z5F5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      44015942..44064232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366240.1XP_054222215.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5K4
    2. XM_054366244.1XP_054222219.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X5

    3. XM_054366242.1XP_054222217.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X3

    4. XM_054366243.1XP_054222218.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X4

    5. XM_054366241.1XP_054222216.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X1

    6. XM_054366245.1XP_054222220.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5K4
    7. XM_054366239.1XP_054222214.1  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X1