Reactome | ALG2 V68G [endoplasmic reticulum membrane]

ALG2 V68G [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-5633236

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Alpha-1,3-mannosyltransferase ALG2, ALG2_HUMAN

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External Reference Information

External Reference

UniProt:Q9H553 ALG2

Gene Names

ALG2, UNQ666/PRO1298

Chain

chain:1-416

Reference Genes

BioGPS Gene:85365 ALG2

COSMIC (genes):ALG2 ALG2

CTD Gene:85365 ALG2

dbSNP Gene:85365 ALG2

ENSEMBL:ENSG00000119523.10 ALG2

HGNC:23159 ALG2

KEGG Gene (Homo sapiens):85365 ALG2

Monarch:85365 ALG2

NCBI Gene:85365 ALG2

OMIM:607905 ALG2

UCSC:Q9H553 ALG2

Reference Transcript

RefSeq:NM_033087.3 ALG2

Other Identifiers

0002230215

0005360113

11724754_a_at

11724755_at

11757951_s_at

17096546

225621_PM_at

225621_at

3217513

3217514

3217515

3217516

3217518

3217519

3217521

3217522

3217523

44054_at

59299_at

76713_r_at

8162827

85365

A_23_P146728

A_33_P3297050

GE79287

GO:0000033

GO:0003674

GO:0004378

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005737

GO:0005783

GO:0005789

GO:0006486

GO:0006488

GO:0006490

GO:0006629

GO:0008150

GO:0016020

GO:0016021

GO:0016740

GO:0016757

GO:0036211

GO:0043226

GO:0046982

GO:0047485

GO:0048306

GO:0048471

GO:0051592

GO:0097502

GO:0102704

GO:1901135

HMNXSV003028089

Hs.40919.1.S1_3p_at

ILMN_1722688

ILMN_1737945

PH_hs_0028866

TC09001411.hg

TC09002699.hg

Participates

as a member of

ALG2 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

ALG2 G347Vfs*27 [endoplasmic reticulum membrane]

ALG2 72-75delinsSPR [endoplasmic reticulum membrane]

ALG2 [endoplasmic reticulum membrane]

Modified Residues

Name

L-valine 68 replaced with glycine

Coordinate

PsiMod

glycine residue [MOD:00017]

A protein modification that effectively converts a source amino acid residue to a glycine.

L-valine removal [MOD:01650]

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

Disease

Name	Identifier	Synonyms
congenital myasthenic syndrome	DOID:3635

Cross References

RefSeq

NP_149078.1

OpenTargets

ENSG00000119523

HPA

ENSG00000119523-ALG2

GeneCards

Q9H553

Ensembl

ENST00000319033, ENSP00000417764, ENSP00000326609, ENST00000476832, ENSG00000119523

PRO

Q9H553

Pharos - Targets

Q9H553

Orphanet

15496

HMDB Protein

HMDBP00383

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P54253 ATX1			0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	3