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

Summary

Official Symbol: B4GALNT2provided by HGNC
Official Full Name: beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)provided by HGNC
Primary source: HGNC:HGNC:24136
See related: Ensembl:ENSG00000167080 MIM:111730; AllianceGenome:HGNC:24136
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: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (49120344..49176840)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (49983750..50039929)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (47209822..47254202)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

N-Glycan on the Non-Consensus N-X-C Glycosylation Site Impacts Activity, Stability, and Localization of the Sd[a] Synthase B4GALNT2.
Title: N-Glycan on the Non-Consensus N-X-C Glycosylation Site Impacts Activity, Stability, and Localization of the Sd(a) Synthase B4GALNT2.
Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System.
Title: Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System.
B4GALNT2 Controls Sd(a) and SLe(x) Antigen Biosynthesis in Healthy and Cancer Human Colon.
Title: B4GALNT2 Controls Sd(a) and SLe(x) Antigen Biosynthesis in Healthy and Cancer Human Colon.
Analysis of the proximal promoter of the human colon-specific B4GALNT2 (Sd(a) synthase) gene: B4GALNT2 is transcriptionally regulated by ETS1.
Title: Analysis of the proximal promoter of the human colon-specific B4GALNT2 (Sd(a) synthase) gene: B4GALNT2 is transcriptionally regulated by ETS1.
Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with rAAVrh74.MHCK7.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength.
Title: Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with rAAVrh74.MHCK7.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength.
The role of the blood group-related glycosyltransferases FUT2 and B4GALNT2 in susceptibility to infectious disease.
Title: The role of the blood group-related glycosyltransferases FUT2 and B4GALNT2 in susceptibility to infectious disease.
Glycosyltransferase B4GALNT2 as a Predictor of Good Prognosis in Colon Cancer: Lessons from Databases.
Title: Glycosyltransferase B4GALNT2 as a Predictor of Good Prognosis in Colon Cancer: Lessons from Databases.
High Expression of the Sd(a) Synthase B4GALNT2 Associates with Good Prognosis and Attenuates Stemness in Colon Cancer.
Title: High Expression of the Sd(a) Synthase B4GALNT2 Associates with Good Prognosis and Attenuates Stemness in Colon Cancer.
Results found that demonstrate that EGFR ligands can activate the human GALGT2 promoter. Deletion analysis of the GALGT2 promoter identified a 45-bp region containing a TFAP4-binding site that was required for soluble HB-EGF activation.
Title: Soluble Heparin Binding Epidermal Growth Factor-Like Growth Factor Is a Regulator of GALGT2 Expression and GALGT2-Dependent Muscle and Neuromuscular Phenotypes.
B4GALNT2 overexpression prevented the infection of every avian influenza virus strain tested, including the H5, H9, and H7 subtypes, which have previously caused disease in humans.
Title: A CRISPR Activation Screen Identifies a Pan-avian Influenza Virus Inhibitory Host Factor.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Associated conditions

Description	Tests
BLOOD GROUP, SID SYSTEM MedGen: C5574996 OMIM: 615018 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD14296 (e-PCR)
- UniSTS:295318

RH103686 (e-PCR)
- UniSTS:98011

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylgalactosaminyltransferase 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 UDP-N-acetylgalactosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP-N-acetylgalactosamine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in UDP-N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid glycosylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
involved_in protein N-linked glycosylation via asparagine	TAS Traceable Author Statement more info
involved_in protein import	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber differentiation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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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

EC 2.4.1.-

NP_001152860.1

EC 2.4.1.-

NP_703147.2

EC 2.4.1.-

XP_011522616.1

EC 2.4.1.-

XP_016879662.1

EC 2.4.1.-

XP_054170999.1

EC 2.4.1.-

XP_054171000.1

EC 2.4.1.-

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)

NM_001159387.2 → NP_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

ENSP00000377022.3, ENST00000393354.7

Conserved Domains (2) summary

COG0463
Location:262 → 363

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

pfam00535
Location:264 → 370

Glycos_transf_2; Glycosyl transferase family 2
NM_001159388.2 → NP_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:236 → 337

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

pfam00535
Location:238 → 344

Glycos_transf_2; Glycosyl transferase family 2
NM_153446.3 → NP_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

B4DZE4, Q14CP1, Q86Y40, Q8NHY0

Related

ENSP00000300404.2, ENST00000300404.2

Conserved Domains (2) summary

COG0463
Location:322 → 423

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

pfam00535
Location:324 → 430

Glycos_transf_2; Glycosyl transferase family 2

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

49120344..49176840

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q8NHY0

Conserved Domains (2) summary

COG0463
Location:236 → 337

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

pfam00535
Location:238 → 344

Glycos_transf_2; Glycosyl transferase family 2
XM_011524314.3 → XP_011522616.1 beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

49983750..50039929

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315024.1 → XP_054170999.1 beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1
XM_054315025.1 → XP_054171000.1 beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X2