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B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 148789, updated on 7-Jun-2020

Summary

Official Symbol
B3GALNT2provided by HGNC
Official Full Name
beta-1,3-N-acetylgalactosaminyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:28596
See related
Ensembl:ENSG00000162885 MIM:610194
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
MDDGA11; B3GalNAc-T2
Summary
This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
Expression
Ubiquitous expression in prostate (RPKM 6.9), esophagus (RPKM 6.9) and 25 other tissues See more
Orthologs

Genomic context

See B3GALNT2 in Genome Data Viewer
Location:
1q42.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (235440654..235504481, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235610505..235667781, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene atrophin 1 pseudogene Neighboring gene tubulin folding cofactor E Neighboring gene ribosomal protein S21 pseudogene 1 Neighboring gene MT-CYB pseudogene 14 Neighboring gene MT-ND6 pseudogene 14

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC39558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation TAS
Traceable Author Statement
more info
 
protein glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
Names
UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2
beta-1,3-GalNAc-T2
NP_001264084.1
NP_689703.1
XP_006711812.1
XP_016855883.1
XP_016855884.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033219.2 RefSeqGene

    Range
    5030..62292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001277155.3NP_001264084.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001264084.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate in-frame exon in the 5' coding region, and its transcription extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC016974, BC029564, FO393422
    Consensus CDS
    CCDS60453.1
    UniProtKB/Swiss-Prot
    Q8NCR0
    Related
    ENSP00000315678.3, ENST00000313984.3
    Conserved Domains (1) summary
    PLN03133
    Location:93142
    PLN03133; beta-1,3-galactosyltransferase; Provisional
  2. NM_152490.5NP_689703.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_689703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AB209046, AW513183, BC029564, BQ221255, FO393422
    Consensus CDS
    CCDS1606.1
    UniProtKB/Swiss-Prot
    Q8NCR0
    Related
    ENSP00000355559.3, ENST00000366600.8
    Conserved Domains (2) summary
    PLN03133
    Location:52101
    PLN03133; beta-1,3-galactosyltransferase; Provisional
    cl21608
    Location:307457
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    235440654..235504481 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711749.3XP_006711812.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

    Conserved Domains (1) summary
    cl21608
    Location:307457
    Galactosyl_T; Galactosyltransferase
  2. XM_017000394.1XP_016855883.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

  3. XM_017000395.1XP_016855884.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

RNA

  1. XR_001736990.1 RNA Sequence

  2. XR_001736989.1 RNA Sequence

  3. XR_001736987.1 RNA Sequence

  4. XR_001736988.1 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040927.1 Reference GRCh38.p13 PATCHES

    Range
    90782..148044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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