Reactome | MGAT2 C339* [Golgi membrane]

MGAT2 C339* [Golgi membrane]

Stable Identifier

R-HSA-4839829

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, MGAT2_HUMAN

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External Reference Information

External Reference

UniProt:Q10469 MGAT2

Gene Names

MGAT2

Chain

chain:1-447

Reference Genes

BioGPS Gene:4247 MGAT2

COSMIC (genes):MGAT2 MGAT2

CTD Gene:4247 MGAT2

dbSNP Gene:4247 MGAT2

ENSEMBL:ENSG00000168282 MGAT2

HGNC:7045 MGAT2

KEGG:hsa:4247 MGAT2

Monarch:4247 MGAT2

NCBI Gene:4247 MGAT2

OMIM:602616 MGAT2

UCSC:Q10469 MGAT2

Reference Transcript

RefSeq:NM_002408.4 MGAT2

Other Identifiers

11736011_s_at

11736012_x_at

11750984_a_at

11756109_s_at

16783920

203101_PM_s_at

203101_s_at

203102_PM_s_at

203102_s_at

211061_PM_s_at

211061_s_at

3534867

3534868

3534869

3534870

3534871

3534872

3534873

3534874

3534875

3534876

3534877

40806_at

4247

7974207

A_14_P104481

A_23_P65558

GE58287

GO:0000139

GO:0003824

GO:0005794

GO:0005795

GO:0005975

GO:0006486

GO:0006487

GO:0008455

GO:0009312

GO:0016020

GO:0016740

GO:0016757

GO:0018279

GO:0019082

GO:0030145

GO:0042803

GO:0043226

GO:0046872

GO:0140096

HMNXSV003013420

Hs.172195.0.S1_3p_s_at

ILMN_1739151

ILMN_2342240

ILMN_2346831

PH_hs_0022214

TC14000275.hg

U15128_at

g13623554_3p_s_at

g6031183_3p_a_at

Participates

as a member of

MGAT2 mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

MGAT2 N318D [Golgi membrane]

MGAT2 S290F [Golgi membrane]

MGAT2 H262R [Golgi membrane]

MGAT2 K237N [Golgi membrane]

MGAT2 [Golgi membrane]

Modified Residues

Name

Nonsense mutation at L-cysteine 339

Coordinate

339

PsiMod

L-cysteine removal [MOD:01635]

A protein modification that effectively removes or replaces an L-cysteine.

Disease

Name	Identifier	Synonyms
congenital disorder of glycosylation type II	DOID:0050571

Cross References

RefSeq

NP_002399.1

ENSEMBL

ENSG00000168282, ENST00000305386, ENSP00000307423

OpenTargets

ENSG00000168282

GeneCards

MGAT2

HPA

ENSG00000168282-MGAT2

ZINC target

Q10469

PRO

Q10469

Pharos - Targets

Q10469

GlyGen

Q10469

Orphanet

MGAT2

HMDB Protein

HMDBP01609

PDB

5VCS, 5VCR, 5VCM

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8NFQ8 TOIP2			0.527	3
UniProt:P40855 PEX19	1	PEX19 [cytosol] (R-HSA-3009036)	0.527	4

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