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    GLT8D2 glycosyltransferase 8 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 83468, updated on 30-Mar-2024

    Summary

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    Official Symbol
    GLT8D2provided by HGNC
    Official Full Name
    glycosyltransferase 8 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24890
    See related
    Ensembl:ENSG00000120820 AllianceGenome:HGNC:24890
    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
    Summary
    Predicted to enable glycosyltransferase activity. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in gall bladder (RPKM 16.0), ovary (RPKM 13.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q23.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (103988987..104064437, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (103950706..104026130, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (104382765..104458215, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104350309-104350822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6905 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23620 Neighboring gene thymine DNA glycosylase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23681 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104408145-104408367 Neighboring gene phosphoglycerate mutase 1 (brain) pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23711 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4784 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104458005-104458174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4786 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23722 Neighboring gene host cell factor C2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23731 Neighboring gene RNA, 5S ribosomal pseudogene 370 Neighboring gene nuclear transcription factor Y subunit beta

    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. High glycosyltransferase 8 domain containing two protein levels contribute to poor prognosis in urothelial carcinoma. Chen TJ, et al. Int J Urol, 2021 Nov. PMID 34374132
    2. Mechanism of the effect of glycosyltransferase GLT8D2 on fatty liver. Zhan Y, et al. Lipids Health Dis, 2015 May 8. PMID 25952508, Free PMC Article
    3. Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer. Xu H, et al. BMC Med Genomics, 2023 Jun 5. PMID 37277853, Free PMC Article
    4. Glycosyltransferase GLT8D2 positively regulates ApoB100 protein expression in hepatocytes. Wei HS, et al. Int J Mol Sci, 2013 Oct 29. PMID 24173238, Free PMC Article
    5. Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. Patin E, et al. Gastroenterology, 2012 Nov. PMID 22841784, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer.
      Title: Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer.
    2. High glycosyltransferase 8 domain containing two protein levels contribute to poor prognosis in urothelial carcinoma.
      Title: High glycosyltransferase 8 domain containing two protein levels contribute to poor prognosis in urothelial carcinoma.
    3. role in nonalcoholic fatty liver disease pathogenesis possibly by negatively regulating MTP expression
      Title: Mechanism of the effect of glycosyltransferase GLT8D2 on fatty liver.
    4. Based on these results, we propose that GLT8D2 is a glycosyltransferase of apoB100 that regulates apoB100 levels in hepatocytes
      Title: Glycosyltransferase GLT8D2 positively regulates ApoB100 protein expression in hepatocytes.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31494

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glycosyltransferase 8 domain-containing protein 2
    NP_001303896.1
    NP_001371640.1
    NP_001371641.1
    NP_001371642.1
    NP_001371644.1
    NP_001371645.1
    NP_001371646.1
    NP_001371647.1
    NP_001371648.1
    NP_001371649.1
    NP_001371650.1
    NP_001371651.1
    NP_112592.1
    XP_016875488.1
    XP_047285585.1
    XP_047285586.1
    XP_047285587.1
    XP_047285588.1
    XP_054229355.1
    XP_054229356.1
    XP_054229357.1
    XP_054229358.1
    XP_054229359.1

    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.

    mRNA and Protein(s)

    1. NM_001316967.2 → NP_001303896.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Related
      ENSP00000447450.1, ENST00000548660.5
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      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_001384711.1 → NP_001371640.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Related
      ENSP00000354053.4, ENST00000360814.9
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      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_001384712.1 → NP_001371641.1  glycosyltransferase 8 domain-containing protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Conserved Domains (1) summary
      cl11394
      Location:56 → 341
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    4. NM_001384713.1 → NP_001371642.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    5. NM_001384715.1 → NP_001371644.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    6. NM_001384716.1 → NP_001371645.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    7. NM_001384717.1 → NP_001371646.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    8. NM_001384718.1 → NP_001371647.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    9. NM_001384719.1 → NP_001371648.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    10. NM_001384720.1 → NP_001371649.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    11. NM_001384721.1 → NP_001371650.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    12. NM_001384722.1 → NP_001371651.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    13. NM_031302.5 → NP_112592.1  glycosyltransferase 8 domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_112592.1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS9096.1
      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      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_169300.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC078819

    2. NR_169301.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC078819

    3. NR_169302.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC078819

    4. NR_169303.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC078819

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      103988987..104064437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019999.2 → XP_016875488.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Conserved Domains (1) summary
      cl11394
      Location:51 → 336
      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_047429631.1 → XP_047285587.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    3. XM_047429629.1 → XP_047285585.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    4. XM_047429630.1 → XP_047285586.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    5. XM_047429632.1 → XP_047285588.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
      Related
      ENSP00000449750.1, ENST00000546436.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      103950706..104026130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373382.1 → XP_054229357.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    2. XM_054373383.1 → XP_054229358.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    3. XM_054373380.1 → XP_054229355.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    4. XM_054373381.1 → XP_054229356.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3

    5. XM_054373384.1 → XP_054229359.1  glycosyltransferase 8 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KA2, Q9H1C3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1C3.1 GenPept UniProtKB/Swiss-Prot:Q9H1C3

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