GGDB:

B3GALNT2はbeta-1,3-N-acetylgalactosaminyltransferase 2をコードする。本酵素は、非還元末端のGlcNAcβ-をアクセプター基質として、β1,3結合でGalNAcを転移し、GalNAcβ1,3GlcNAcβ-を合成する。この構造はαジストログリカン上に見出され、筋ジストロフィーの一種のジストログリカノパチー患者の一部に本酵素遺伝子の変異が見つかっている。

Keyword: Type 1 LacdiNAc , αジストログリカン , ジストログリカノパチー , 筋ジストロフィー

	UDP-GalNAc
JCGG-STR008276 GlyTouCan: G49108TO GlyCosmos Glycans: G49108TO		JCGG-STR031579 GlyTouCan: G36387CV GlyCosmos Glycans: G36387CV

	UDP-GalNAc
JCGG-STR029201 GlyTouCan: G00033MO GlyCosmos Glycans: G00033MO		JCGG-STR016144 GlyTouCan: G01707KB GlyCosmos Glycans: G01707KB

	UDP-GalNAc
JCGG-STR023421 GlyTouCan: G97041TX GlyCosmos Glycans: G97041TX		JCGG-STR033506 GlyTouCan: G82715NG GlyCosmos Glycans: G82715NG

N-Acetylgalactosaminyltransferase

GGDB Symbol

B3GALNT2 Alias

Designation

beta 1,3-N-acetylgalactosaminyltransferase 2

Organism

Homo sapiens

GeneID

148789

HGNC

B3GALNT2 (28596)

mRNA

NM_152490

map

1q42.3

Protein

NP_689703

EC#

CAZy

GlyCosmos Glycogenes

B3GALNT2

OMIM

610194

Disease name

GDGDB

Human Protein Atlas

ENSG00000162885

Mus musculus

mRNA	NM_178640
Protein	NP_848755
MGI	72957

Rattus norvegicus

mRNA	XM_225436
Protein	XP_225436

Science 2004-04-01 ;279(14):14087-95.

A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc.

Hiruma T. et al. PMID:14724282 Refer to: TABLE I Table I

DONOR : UDP-GalNAc

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN

Substrate Transferred

	JCGG-STR029201 GlyTouCan: G00033MO GlyCosmos Glycans: G00033MO	UDP-GalNAc	JCGG-STR016144 GlyTouCan: G01707KB GlyCosmos Glycans: G01707KB

	JCGG-STR008276 GlyTouCan: G49108TO GlyCosmos Glycans: G49108TO	UDP-GalNAc	JCGG-STR031579 GlyTouCan: G36387CV GlyCosmos Glycans: G36387CV

	JCGG-STR025633 GlyTouCan: G42666HT GlyCosmos Glycans: G42666HT	UDP-GalNAc	JCGG-STR031582 GlyTouCan: G37177QE GlyCosmos Glycans: G37177QE

	JCGG-STR015955 GlyTouCan: G00041MO GlyCosmos Glycans: G00041MO	UDP-GalNAc	JCGG-STR031584 GlyTouCan: G07570IW GlyCosmos Glycans: G07570IW

	JCGG-STR025794 GlyTouCan: G00035MO GlyCosmos Glycans: G00035MO	UDP-GalNAc	JCGG-STR031583 GlyTouCan: G18975PJ GlyCosmos Glycans: G18975PJ

	JCGG-STR029201 GlyTouCan: G00033MO GlyCosmos Glycans: G00033MO	UDP-GalNAc	JCGG-STR016144 GlyTouCan: G01707KB GlyCosmos Glycans: G01707KB

	JCGG-STR008276 GlyTouCan: G49108TO GlyCosmos Glycans: G49108TO	UDP-GalNAc	JCGG-STR031579 GlyTouCan: G36387CV GlyCosmos Glycans: G36387CV

Substrate Not Transferred

	JCGG-STR031555 GlyTouCan: G65889KE GlyCosmos Glycans: G65889KE

	JCGG-STR031555 GlyTouCan: G65889KE GlyCosmos Glycans: G65889KE

	JCGG-STR025718 GlyTouCan: G57321FI GlyCosmos Glycans: G57321FI

	JCGG-STR025718 GlyTouCan: G57321FI GlyCosmos Glycans: G57321FI

	JCGG-STR031580 GlyTouCan: G93723GS GlyCosmos Glycans: G93723GS

	JCGG-STR032134 GlyTouCan: G96881BQ GlyCosmos Glycans: G96881BQ

	JCGG-STR031578

	JCGG-STR001961 GlyTouCan: G84224TW GlyCosmos Glycans: G84224TW

	JCGG-STR031555 GlyTouCan: G65889KE GlyCosmos Glycans: G65889KE

	JCGG-STR002182 GlyTouCan: G00059MO GlyCosmos Glycans: G00059MO

	JCGG-STR026907 GlyTouCan: G00061MO GlyCosmos Glycans: G00061MO

	JCGG-STR026039 GlyTouCan: G84088FO GlyCosmos Glycans: G84088FO

	JCGG-STR023793 GlyTouCan: G10400UC GlyCosmos Glycans: G10400UC

	JCGG-STR008276 GlyTouCan: G49108TO GlyCosmos Glycans: G49108TO

	JCGG-STR031569 GlyTouCan: G71142DF GlyCosmos Glycans: G71142DF

	JCGG-STR031569 GlyTouCan: G71142DF GlyCosmos Glycans: G71142DF

	JCGG-STR031571 GlyTouCan: G16579HJ GlyCosmos Glycans: G16579HJ

	JCGG-STR031571 GlyTouCan: G16579HJ GlyCosmos Glycans: G16579HJ

	JCGG-STR001961 GlyTouCan: G84224TW GlyCosmos Glycans: G84224TW

	JCGG-STR025711 GlyTouCan: G00031MO GlyCosmos Glycans: G00031MO

J. Biol. Chem. 2013-08-01 ;341(6148):896-9.

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

Yoshida-Moriguchi T. et al. PMID:23929950 Refer to: Fig. 2

DONOR : UDP-GalNAc

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN

Substrate Transferred

	JCGG-STR023421 GlyTouCan: G97041TX GlyCosmos Glycans: G97041TX	UDP-GalNAc	JCGG-STR033506 GlyTouCan: G82715NG GlyCosmos Glycans: G82715NG

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Science 2004-04-01 ;279(14):14087-95.

A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc.

Hiruma T. et al. PMID:14724282

adiposeadrenal glandsbone marrowbraincerebellumcolonfetal brainfetal liverheartkidneyliverlungmammary glandovarypancreasplacentaprostatesalivary glandskeletal musclesmall intestinespinal cordspleenstomachtestisthymusthyroid glandtracheauterus

B3GALNT2

N-Acetylgalactosaminyltransferase

Orthologous Gene

Mus musculus

Rattus norvegicus

Acceptor Substrates (Reference)

A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc.

DONOR : UDP-GalNAc

Substrate Transferred

Substrate Not Transferred

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

DONOR : UDP-GalNAc

Substrate Transferred

Acceptor Substrates (KEM-C)

Expression

Expression (Reference)

A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc.

Gene Ontology