EXT2 A361Pfs*44 [Golgi membrane]

Stable Identifier
R-HSA-3731083
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Exostosin-2, EXT2_HUMAN
Icon
EXT2 A361Pfs*44 [Golgi membrane] icon
EXT2 A361Pfs*44 [Golgi membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
8894688 Positional cloning of a gene involved in hereditary multiple exostoses

Wuyts, W, Van Hul, W, Wauters, J, Nemtsova, M, Reyniers, E, Van Hul, EV, De Boulle, K, de Vries, BB, Hendrickx, J, Herrygers, I, Bossuyt, P, Balemans, W, Fransen, E, Vits, L, Coucke, P, Nowak, NJ, Shows, TB, Mallet, L, van den Ouweland, AM, McGaughran, J, Halley, DJ, Willems, PJ

Hum. Mol. Genet. 1996
External Reference Information
External Reference
UniProt:Q93063 EXT2
Gene Names
EXT2
Chain
chain:1-718
Reference Genes
BioGPS Gene:2132 EXT2
COSMIC (genes):EXT2 EXT2
CTD Gene:2132 EXT2
dbSNP Gene:2132 EXT2
ENSEMBL:ENSG00000151348 EXT2
HGNC:3513 EXT2
KEGG:hsa:2132 EXT2
Monarch:2132 EXT2
NCBI Gene:2132 EXT2
OMIM:608210 EXT2
UCSC:Q93063 EXT2
Reference Transcript
Other Identifiers
11723014_a_at
11723015_s_at
11752434_a_at
11752435_s_at
16724031
202012_PM_s_at
202012_s_at
202013_PM_s_at
202013_s_at
2132
235685_PM_at
235685_at
236483_PM_at
236483_at
3328390
3328391
3328392
3328393
3328394
3328395
3328396
3328397
3328400
3328401
3328402
3328403
3328404
3328405
3328409
3328410
3328411
3328415
3328416
3328417
3328418
3328420
3328426
3328427
3328428
3328429
3328430
3328431
3328432
3328433
3328434
3328442
3328454
3328455
3328456
3328457
3328458
3328460
3328462
36593_at
36594_s_at
54876_at
57976_at
7939524
A_14_P102151
A_14_P103622
A_14_P104744
A_14_P110150
A_23_P13183
A_32_P27373
GE58218
GE611937
GE854284
GE870432
GO:0000139
GO:0000271
GO:0001503
GO:0001707
GO:0002062
GO:0003013
GO:0005515
GO:0005576
GO:0005783
GO:0005789
GO:0005794
GO:0005975
GO:0006024
GO:0006486
GO:0006487
GO:0006790
GO:0008217
GO:0008375
GO:0010467
GO:0015012
GO:0015020
GO:0016020
GO:0016740
GO:0016757
GO:0030154
GO:0030210
GO:0042044
GO:0042311
GO:0042328
GO:0043541
GO:0044344
GO:0046872
GO:0046982
GO:0050508
GO:0050509
GO:0050891
GO:0051923
GO:0055078
GO:0060047
GO:0060350
GO:0070062
GO:1901135
GO:1902494
HMNXSV003043488
Hs.100265.0.A1_3p_at
Hs.103682.0.A1_3p_at
Hs.75334.0.S1_3p_a_at
ILMN_1761259
ILMN_2328029
PH_hs_0004312
TC11003446.hg
U67368_s_at
U72263_s_at
g4557572_3p_a_at
Participates
as a member of
Other forms of this molecule
EXT2 [Golgi membrane]
EXT2 D227N [Golgi membrane]
EXT2 V187Pfs*115 [Golgi membrane]
EXT2 Q258* [Golgi membrane]
EXT2 Y222* [Golgi membrane]
EXT2 G172* [Golgi membrane]
Modified Residues
Name
Replacement of residues 361 to 403 by PGGSGKRTSSQLKPLPWPPCRLSMTGSIHMLPSPMKNGMTLLL
Disease
Name Identifier Synonyms
hereditary multiple exostoses DOID:206 Osteochondromatosis syndrome (disorder) [Ambiguous], Multiple exostosis syndromes, Multiple congenital exostosis
Cross References
RefSeq
OpenTargets
ENSEMBL
Mondo
PRO
GlyGen
PDB
IntEnz
HPA
GeneCards
Pharos - Targets
Orphanet
ClinVar
HMDB Protein
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