B3GALNT2

B3GALNT2
Identifiers
Aliases	B3GALNT2 , B3GalNAc-T2, MDDGA11, beta-1,3-N-acetylgalactosaminyltransferase 2
External IDs	OMIM: 610194; MGI: 2145517; HomoloGene: 17595; GeneCards: B3GALNT2; OMA:B3GALNT2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q42.3 Start 235,447,190 bp [1] End 235,504,452 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 A1 Start 14,129,054 bp [2] End 14,173,688 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas skeletal muscle tissue muscle of thigh gastrocnemius muscle popliteal artery tibial arteries stromal cell of endometrium testicle right coronary artery smooth muscle tissue Top expressed in triceps brachii muscle vastus lateralis muscle Rostral migratory stream intercostal muscle sternocleidomastoid muscle temporal muscle tail of embryo muscle of thigh secondary oocyte genital tubercle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity acetylglucosaminyltransferase activity galactosyltransferase activity glycosyltransferase activity acetylgalactosaminyltransferase activity Cellular component integral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process protein glycosylation protein O-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 148789 97884 Ensembl ENSG00000282880 ENSG00000162885 ENSMUSG00000039242 UniProt Q8NCR0 Q8BG28 RefSeq (mRNA) NM_001277155 NM_152490 NM_178640 NM_001362404 NM_001362405 RefSeq (protein) NP_001264084 NP_689703 NP_848755 NP_001349333 NP_001349334 Location (UCSC) Chr 1: 235.45 – 235.5 Mb Chr 13: 14.13 – 14.17 Mb PubMed search [3] [4]
Wikidata
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Beta-1,3-N-acetylgalactosaminyltransferase 2 is a protein that in humans is encoded by the B3GALNT2 gene. ^[5]

Function

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].

Clinical significance

A mutation in B3GALNT2 is known to cause dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11), which is an autosomal recessive muscular dystrophy. ^[6]

References

1. ENSG00000162885 GRCh38: Ensembl release 89: ENSG00000282880, ENSG00000162885 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039242 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Beta-1,3-N-acetylgalactosaminyltransferase 2" . Retrieved 2013-08-28.
6. "B3GL2_HUMAN: disease variants". UniProt. Q8NCR0. Retrieved 2023-10-31.

Further reading

• Hiruma T, Togayachi A, Okamura K, Sato T, Kikuchi N, Kwon YD, et al. (Apr 2004). "A Novel Human 1,3-N-Acetylgalactosaminyltransferase That Synthesizes a Unique Carbohydrate Structure, GalNAc 1-3GlcNAc". The Journal of Biological Chemistry. 279 (14): 14087–14095. doi: 10.1074/jbc.M310614200 . PMID   14724282.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.