Reactome | MGAT2 K237N [Golgi membrane]

MGAT2 K237N [Golgi membrane]

Stable Identifier

R-HSA-4839784

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

ENSEMBL:ENSG00000168282.6 MGAT2

HGNC:7045 MGAT2

KEGG Gene (Homo sapiens):4247 MGAT2

Monarch:4247 MGAT2

NCBI Gene:4247 MGAT2

OMIM:602616 MGAT2

UCSC:Q10469 MGAT2

Reference Transcript

RefSeq:NM_002408.3 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:0036211

GO:0042803

GO:0043226

GO:0046872

GO:0140096

GO:1901135

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 C339* [Golgi membrane]

MGAT2 N318D [Golgi membrane]

MGAT2 S290F [Golgi membrane]

MGAT2 H262R [Golgi membrane]

MGAT2 [Golgi membrane]

Modified Residues

Name

L-lysine 237 replaced with L-asparagine

Coordinate

237

PsiMod

L-asparagine residue [MOD:00012]

A protein modification that effectively converts a source amino acid residue to an L-asparagine.

L-lysine removal [MOD:01642]

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

Disease

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

Cross References

RefSeq

NP_002399.1

OpenTargets

ENSG00000168282

HPA

ENSG00000168282-MGAT2

GeneCards

Q10469

ZINC target

Q10469

Ensembl

ENST00000305386, ENSP00000307423, ENSG00000168282

PRO

Q10469

Pharos - Targets

Q10469

Orphanet

16396

HMDB Protein

HMDBP01609

PDB

5VCM, 5VCR, 5VCS

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