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

Gene ID: 148789, updated on 17-Sep-2024

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; AllianceGenome:HGNC:28596
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
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Genomic context

See B3GALNT2 in Genome Data Viewer
Location:
1q42.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235439796..235504452, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (234835690..234900322, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235610505..235667752, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235530449-235531162 Neighboring gene tubulin folding cofactor E Neighboring gene MPRA-validated peak773 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235563413-235563946 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 Neighboring gene ribosomal protein S21 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235639769-235640268 Neighboring gene MPRA-validated peak774 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235667854-235668530 Neighboring gene MT-CYB pseudogene 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 Neighboring gene MT-ND6 pseudogene 14

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Clone Names

  • MGC39558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein O-linked glycosylation TAS
Traceable Author Statement
more info
 
involved_in protein glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
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_047302958.1
XP_047302959.1
XP_047302960.1
XP_047302961.1
XP_054187907.1
XP_054187908.1
XP_054187909.1
XP_054187910.1
XP_054187911.1
XP_054187912.1
XP_054190572.1
XP_054190573.1
XP_054190574.1
XP_054190575.1
XP_054190576.1
XP_054190577.1

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.

Genomic

  1. NG_033219.3 RefSeqGene

    Range
    5000..62262
    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

    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

    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
    Q59GR3, Q5TCI3, Q8NCR0, Q96AL7
    UniProtKB/TrEMBL
    A0A6Q8PEZ9
    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: 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
    235439796..235504452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711749.4XP_006711812.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

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

    UniProtKB/TrEMBL
    A0A6Q8PGQ3
    Related
    ENSP00000502392.1, ENST00000676288.1
  3. XM_047447005.1XP_047302961.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

  4. XM_047447004.1XP_047302960.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

  5. XM_047447002.1XP_047302958.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

  6. XM_047447003.1XP_047302959.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_014040927.1 Reference GRCh38.p14 PATCHES

    Range
    83388..148044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331932.1XP_054187907.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

  2. XM_054331933.1XP_054187908.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGQ3
  3. XM_054331937.1XP_054187912.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

  4. XM_054331934.1XP_054187909.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

  5. XM_054331936.1XP_054187911.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

  6. XM_054331935.1XP_054187910.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    234835690..234900322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334597.1XP_054190572.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

  2. XM_054334598.1XP_054190573.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGQ3
  3. XM_054334602.1XP_054190577.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

  4. XM_054334599.1XP_054190574.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

  5. XM_054334601.1XP_054190576.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

  6. XM_054334600.1XP_054190575.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4