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

Gene ID: 83468, updated on 11-Jun-2021

Summary

Official Symbol
GLT8D2provided by HGNC
Official Full Name
glycosyltransferase 8 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:24890
See related
Ensembl:ENSG00000120820
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
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

See GLT8D2 in Genome Data Viewer
Location:
12q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (103988987..104064437, complement)
105.20201022 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 chromosome 12 open reading frame 73 Neighboring gene thymine DNA glycosylase Neighboring gene phosphoglycerate mutase 1 (brain) pseudogene Neighboring gene host cell factor C2 Neighboring gene RNA, 5S ribosomal pseudogene 370 Neighboring gene nuclear transcription factor Y subunit beta

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

Associated conditions

Description Tests
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31494

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 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
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001316967.2NP_001303896.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Consensus CDS
    CCDS9096.1
    UniProtKB/Swiss-Prot
    Q9H1C3
    Related
    ENSP00000447450.1, ENST00000548660.5
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384711.1NP_001371640.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Related
    ENSP00000354053.4, ENST00000360814.9
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384712.1NP_001371641.1  glycosyltransferase 8 domain-containing protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:56341
    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_001384713.1NP_001371642.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384715.1NP_001371644.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384716.1NP_001371645.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384717.1NP_001371646.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384718.1NP_001371647.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384719.1NP_001371648.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Related
    ENSP00000449750.1, ENST00000546436.5
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384720.1NP_001371649.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384721.1NP_001371650.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_001384722.1NP_001371651.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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_031302.5NP_112592.1  glycosyltransferase 8 domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_112592.1

    Status: VALIDATED

    Source sequence(s)
    AC078819
    Consensus CDS
    CCDS9096.1
    UniProtKB/Swiss-Prot
    Q9H1C3
    Conserved Domains (1) summary
    cl11394
    Location:51336
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q9H1C3
    Conserved Domains (1) summary
    cl11394
    Location:51336
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
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