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    EXTL2 exostosin like glycosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 2135, updated on 27-Nov-2024

    Summary

    Official Symbol
    EXTL2provided by HGNC
    Official Full Name
    exostosin like glycosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:3516
    See related
    Ensembl:ENSG00000162694 MIM:602411; AllianceGenome:HGNC:3516
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EXTR2
    Summary
    Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.0), placenta (RPKM 9.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See EXTL2 in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100872372..100895179, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100721212..100744883, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (101337928..101360735, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904231 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:101121642-101121817 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:101177825-101179024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1386 Neighboring gene vascular cell adhesion molecule 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:101301135-101302334 Neighboring gene Sharpr-MPRA regulatory region 5467 Neighboring gene MPRA-validated peak338 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:101359730-101360453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:101360454-101361176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1389 Neighboring gene solute carrier family 30 member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1390 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:101490870-101492069 Neighboring gene diphthamide biosynthesis 5

    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 gene information

    Markers

    General protein information

    Preferred Names
    exostosin-like 2
    Names
    EXT-related protein 2
    alpha-1,4-N-acetylhexosaminyltransferase EXTL2
    alpha-GalNAcT EXTL2
    exostoses (multiple)-like 2
    glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    processed exostosin-like 2
    NP_001028197.1
    NP_001248369.1
    NP_001248370.1
    NP_001248371.1
    NP_001430.1
    XP_005270678.1
    XP_011539297.1
    XP_011539298.1
    XP_016856140.1
    XP_047305361.1
    XP_047305362.1
    XP_047305363.1
    XP_047305364.1
    XP_047305365.1
    XP_047305366.1
    XP_054191071.1
    XP_054191072.1
    XP_054191073.1
    XP_054191074.1
    XP_054191075.1
    XP_054191076.1
    XP_054191077.1
    XP_054191078.1
    XP_054191079.1
    XP_054191080.1
    XP_054191081.1
    XP_054191082.1
    XP_054191083.1
    XP_054191084.1
    XP_054191085.1
    XP_054191086.1
    XP_054191087.1
    XP_054191088.1

    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_001033025.3NP_001028197.1  exostosin-like 2 isoform 1

      See identical proteins and their annotated locations for NP_001028197.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC104506, AK312895
      Consensus CDS
      CCDS775.1
      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
      UniProtKB/TrEMBL
      Q49A43, Q8IYF4
      Related
      ENSP00000359132.3, ENST00000370114.8
      Conserved Domains (1) summary
      pfam09258
      Location:66313
      Glyco_transf_64; Glycosyl transferase family 64 domain
    2. NM_001261440.2NP_001248369.1  exostosin-like 2 isoform 2

      See identical proteins and their annotated locations for NP_001248369.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC104506, AK096914
      UniProtKB/TrEMBL
      Q49A43, Q8IYF4, Q8N8F1
      Conserved Domains (1) summary
      pfam09258
      Location:66312
      Glyco_transf_64; Glycosyl transferase family 64 domain
    3. NM_001261441.2NP_001248370.1  exostosin-like 2 isoform 3

      See identical proteins and their annotated locations for NP_001248370.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AC104506, AU130571
      UniProtKB/TrEMBL
      Q49A43, Q8IYF4
      Conserved Domains (1) summary
      pfam09258
      Location:74321
      Glyco_transf_64; Glycosyl transferase family 64 domain
    4. NM_001261442.2NP_001248371.1  exostosin-like 2 isoform 4

      See identical proteins and their annotated locations for NP_001248371.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC104506, BX103291
      Consensus CDS
      CCDS72831.1
      UniProtKB/TrEMBL
      F5GZK1
      Related
      ENSP00000444385.2, ENST00000535414.5
      Conserved Domains (1) summary
      pfam09258
      Location:66146
      Glyco_transf_64; Glycosyl transferase family 64 domain
    5. NM_001439.4NP_001430.1  exostosin-like 2 isoform 1

      See identical proteins and their annotated locations for NP_001430.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants and 2 encode the same isoform.
      Source sequence(s)
      AC104506, AF000416
      Consensus CDS
      CCDS775.1
      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
      UniProtKB/TrEMBL
      Q49A43, Q8IYF4
      Related
      ENSP00000359131.3, ENST00000370113.7
      Conserved Domains (1) summary
      pfam09258
      Location:66313
      Glyco_transf_64; Glycosyl transferase family 64 domain

    RNA

    1. NR_048570.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC104506, AK298124, BP202626

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      100872372..100895179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449409.1XP_047305365.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    2. XM_047449407.1XP_047305363.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    3. XM_047449405.1XP_047305361.1  exostosin-like 2 isoform X1

    4. XM_017000651.3XP_016856140.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q49A43, Q8IYF4, Q8N8F1
      Conserved Domains (1) summary
      pfam09258
      Location:66312
      Glyco_transf_64; Glycosyl transferase family 64 domain
    5. XM_005270621.2XP_005270678.1  exostosin-like 2 isoform X3

      See identical proteins and their annotated locations for XP_005270678.1

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
      UniProtKB/TrEMBL
      Q49A43, Q8IYF4
      Conserved Domains (1) summary
      pfam09258
      Location:66313
      Glyco_transf_64; Glycosyl transferase family 64 domain
    6. XM_047449406.1XP_047305362.1  exostosin-like 2 isoform X1

    7. XM_011540996.3XP_011539298.1  exostosin-like 2 isoform X2

      UniProtKB/TrEMBL
      Q49A43, Q8IYF4
      Conserved Domains (1) summary
      pfam09258
      Location:74320
      Glyco_transf_64; Glycosyl transferase family 64 domain
    8. XM_047449410.1XP_047305366.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    9. XM_047449408.1XP_047305364.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    10. XM_011540995.3XP_011539297.1  exostosin-like 2 isoform X1

      See identical proteins and their annotated locations for XP_011539297.1

      UniProtKB/TrEMBL
      Q49A43, Q8IYF4
      Conserved Domains (1) summary
      pfam09258
      Location:74321
      Glyco_transf_64; Glycosyl transferase family 64 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      100721212..100744883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335108.1XP_054191083.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    2. XM_054335113.1XP_054191088.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    3. XM_054335105.1XP_054191080.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    4. XM_054335098.1XP_054191073.1  exostosin-like 2 isoform X1

    5. XM_054335107.1XP_054191082.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    6. XM_054335104.1XP_054191079.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    7. XM_054335099.1XP_054191074.1  exostosin-like 2 isoform X1

    8. XM_054335103.1XP_054191078.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    9. XM_054335110.1XP_054191085.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    10. XM_054335111.1XP_054191086.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    11. XM_054335097.1XP_054191072.1  exostosin-like 2 isoform X1

    12. XM_054335100.1XP_054191075.1  exostosin-like 2 isoform X1

    13. XM_054335106.1XP_054191081.1  exostosin-like 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R795, D3DT60, Q9UBQ6
    14. XM_054335102.1XP_054191077.1  exostosin-like 2 isoform X2

    15. XM_054335109.1XP_054191084.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    16. XM_054335096.1XP_054191071.1  exostosin-like 2 isoform X1

    17. XM_054335112.1XP_054191087.1  exostosin-like 2 isoform X4

      UniProtKB/TrEMBL
      Q8N8F1
    18. XM_054335101.1XP_054191076.1  exostosin-like 2 isoform X1