Reactome | POMT2 I198N [endoplasmic reticulum membrane]

POMT2 I198N [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-5617111

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Protein O-mannosyl-transferase 2 ecNumber2.4.1.109/ecNumber, POMT2_HUMAN

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External Reference Information

External Reference

UniProt:Q9UKY4 POMT2

Gene Names

POMT2

Chain

chain:1-750

Reference Genes

BioGPS Gene:29954 POMT2

COSMIC (genes):POMT2 POMT2

CTD Gene:29954 POMT2

dbSNP Gene:29954 POMT2

ENSEMBL:ENSG00000009830.13 POMT2

HGNC:19743 POMT2

KEGG Gene (Homo sapiens):29954 POMT2

Monarch:29954 POMT2

NCBI Gene:29954 POMT2

OMIM:607439 POMT2

UCSC:Q9UKY4 POMT2

Reference Transcript

RefSeq:NM_013382.5 POMT2

Other Identifiers

0005360040

11729527_a_at

11729528_a_at

16795082

220632_PM_s_at

220632_s_at

225560_PM_at

225560_at

29954

3572983

3572984

3572986

3572987

3572991

3572993

3572994

3572995

3572997

3572998

3572999

3573004

3573005

3573008

3573010

3573011

3573013

3573014

3573015

3573016

3573019

3573022

3573024

3573025

47062_at

76739_at

76741_g_at

76743_at

7980358

A_24_P111134

GE62413

GO:0000030

GO:0003674

GO:0004169

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005730

GO:0005737

GO:0005783

GO:0005789

GO:0005829

GO:0006486

GO:0006493

GO:0008150

GO:0016020

GO:0016021

GO:0016740

GO:0016757

GO:0035269

GO:0036211

GO:0043167

GO:0043226

GO:0046872

GO:1901135

GO:1904100

HMNXSV003038351

Hs.132989.1.S2_3p_at

ILMN_1678805

PH_hs_0007985

TC14001342.hg

g7019494_3p_a_at

Participates

as a member of

POMT2 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

POMT2 [endoplasmic reticulum membrane]

POMT2 Y666C [endoplasmic reticulum membrane]

POMT2 V373F [endoplasmic reticulum membrane]

POMT2 I444_N445insLLWQ [endoplasmic reticulum membrane]

POMT2 T433* [endoplasmic reticulum membrane]

POMT2 R638* [endoplasmic reticulum membrane]

Modified Residues

Name

L-isoleucine 198 replaced with L-asparagine

Coordinate

198

PsiMod

L-asparagine residue [MOD:00012]

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

L-isoleucine removal [MOD:01640]

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

Disease

Name	Identifier	Synonyms
muscular dystrophy-dystroglycanopathy	DOID:0050588

Cross References

RefSeq

NP_037514.2

OpenTargets

ENSG00000009830

HPA

ENSG00000009830-POMT2

GeneCards

Q9UKY4

Ensembl

ENSP00000261534, ENST00000556326, ENSG00000009830, ENST00000261534, ENSP00000450630

PRO

Q9UKY4

Pharos - Targets

Q9UKY4

Orphanet

15123

HMDB Protein

HMDBP00947