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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
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Genomic context

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See GLT8D2 in Genome Data Viewer
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

Gene LinkOut

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