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B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 124872, updated on 4-May-2020

Summary

Official Symbol
B4GALNT2provided by HGNC
Official Full Name
beta-1,4-N-acetyl-galactosaminyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:24136
See related
Ensembl:ENSG00000167080 MIM:111730
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
Also known as
B4GALT; GALGT2
Summary
B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in colon (RPKM 11.5), kidney (RPKM 5.5) and 4 other tissues See more
Orthologs

Genomic context

See B4GALNT2 in Genome Data Viewer
Location:
17q21.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (49120347..49176840)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47209822..47247351)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene insulin like growth factor 2 mRNA binding protein 1 Neighboring gene COX assembly mitochondrial protein homolog pseudogene Neighboring gene B4GALNT2 pseudogene 1 Neighboring gene ribosomal protein S10 pseudogene 25 Neighboring gene tRNA-Gln (anticodon TTG) 1-1 Neighboring gene G protein subunit gamma transducin 2 Neighboring gene ABI family member 3

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

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC142235, MGC142237

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
UDP-N-acetylgalactosamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-N-acetylgalactosamine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
UDP-N-acetylglucosamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-N-acetylglucosamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid glycosylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
protein N-linked glycosylation via asparagine TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
beta-1,4 N-acetylgalactosaminyltransferase 2
Names
UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase
beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT
beta-1,4-N-acetyl-galactosaminyl transferase 2
beta-4-N-acetylgalactosaminyltransferase
sd(a) beta-1,4-GalNAc transferase
sda beta-1,4-GalNAc transferase
NP_001152859.1
NP_001152860.1
NP_703147.2
XP_011522616.1
XP_016879662.1

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.

mRNA and Protein(s)

  1. NM_001159387.2NP_001152859.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform b

    See identical proteins and their annotated locations for NP_001152859.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC069454, AJ517771, AK302876
    Consensus CDS
    CCDS54139.1
    UniProtKB/Swiss-Prot
    Q8NHY0
    Related
    ENSP00000377022.2, ENST00000393354.6
    Conserved Domains (2) summary
    COG0463
    Location:262363
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:264370
    Glycos_transf_2; Glycosyl transferase family 2
  2. NM_001159388.1NP_001152860.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform c

    See identical proteins and their annotated locations for NP_001152860.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AC069454, AJ517771, AK302876
    Consensus CDS
    CCDS54140.1
    UniProtKB/Swiss-Prot
    Q8NHY0
    Related
    ENSP00000425510.1, ENST00000504681.5
    Conserved Domains (2) summary
    COG0463
    Location:236337
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:238344
    Glycos_transf_2; Glycosyl transferase family 2
  3. NM_153446.3NP_703147.2  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform a

    See identical proteins and their annotated locations for NP_703147.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC069454, AJ517770, AJ517771, AK302876, BC113675
    Consensus CDS
    CCDS11544.1
    UniProtKB/Swiss-Prot
    Q8NHY0
    Related
    ENSP00000300404.2, ENST00000300404.2
    Conserved Domains (2) summary
    COG0463
    Location:322423
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:324430
    Glycos_transf_2; Glycosyl transferase family 2

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    49120347..49176840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024173.1XP_016879662.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8NHY0
    Conserved Domains (2) summary
    COG0463
    Location:236337
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam00535
    Location:238344
    Glycos_transf_2; Glycosyl transferase family 2
  2. XM_011524314.2XP_011522616.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X2

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