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SLC35A2 V331I
Stable Identifier
R-HSA-5652093
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
UDP-galactose translocator, S35A2_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) (Homo sapiens)
Defective SLC35A2 does not exchange UDP-Gal, UDP-GalNAc for UMP (Homo sapiens)
SLC35A2 mutants [Golgi membrane] (Homo sapiens)
SLC35A2 V331I [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P78381 SLC35A2
Gene Names
SLC35A2, UGALT, UGT, UGTL
Chain
chain:1-396
Reference Genes
BioGPS Gene:7355 SLC35A2
COSMIC (genes):SLC35A2 SLC35A2
CTD Gene:7355 SLC35A2
dbSNP Gene:7355 SLC35A2
ENSEMBL:ENSG00000102100 SLC35A2
HGNC:11022 SLC35A2
KEGG Gene (Homo sapiens):hsa:7355 SLC35A2
Monarch:7355 SLC35A2
NCBI Gene:7355 SLC35A2
OMIM:314375 SLC35A2
UCSC:P78381 SLC35A2
Reference Transcript
RefSeq:NM_001042498.2 SLC35A2
RefSeq:NM_001282648.1 SLC35A2
RefSeq:NM_005660.2 SLC35A2
RefSeq:NM_001282650.1 SLC35A2
RefSeq:NM_001032289.2 SLC35A2
RefSeq:NM_001282649.1 SLC35A2
RefSeq:NM_001282647.1 SLC35A2
RefSeq:NM_001282651.1 SLC35A2
Other Identifiers
0004060497
11717420_a_at
11717421_a_at
11731249_a_at
11739707_a_at
11752728_x_at
17110654
207439_3p_s_at
207439_s_at
207440_at
209326_at
34229_s_at
34230_r_at
36087
7355
8172460
A_23_P217208
A_24_P310616
A_33_P3261737
AAH35747
AB042425
AF207550
AK290284
AK292816
AK293415
AK298484
B4DE15
B4DSH7
BAA12673
BAA13545
BAA95614
BAA95615
BAF82973
BAF85505
BAG56922
BAG60694
BC035747
CCDS14311
CCDS35247
CCDS43937
CCDS65253
CCDS65254
CH471224
D84454
D84454_at
D88146
D88146_at
EAW50733
EAW50734
ENSG00000102100
ENSP00000247138
ENSP00000365704
ENSP00000402726
ENSP00000416002
ENSP00000489197
ENSP00000489484
ENST00000247138
ENST00000376521
ENST00000445167
ENST00000452555
ENST00000635285
ENST00000635589
EntrezGene:7355
g1526437_3p_at
g5032210_3p_a_at
g5032210_3p_at
GE57350
GE81538
GO:0000139
GO:0005351
GO:0005459
GO:0005634
GO:0005783
GO:0005794
GO:0006012
GO:0006810
GO:0008643
GO:0015785
GO:0015992
GO:0016020
GO:0016021
GO:0072334
HGNC:11022
HPA036087
ILMN_1742731
ILMN_1792135
ILMN_1798885
IPR007271
MIM:300896
MIM:314375
NM_001032289
NM_001042498
NM_001282649
NM_001282651
NM_005660
NP_001027460
NP_001035963
NP_001269578
NP_001269580
NP_005651
PF04142
PH_hs_0001903
PH_hs_0035386
SLC35A2
SLC35A2-201
SLC35A2-204
SLC35A2-207
SLC35A2-209
SLC35A2-215
SLC35A2-217
TC0X001019.hg
uc004dlo.4
uc004dlp.2
uc004dlq.6
uc011mmm.2
uc011mmn.2
uc284raf.1
UPI000002B68C
UPI00000746BA
UPI0000137AEA
UPI0000E25D09
UPI00017A6C35
Participant Of
hasMember
SLC35A2 mutants [Golgi membrane]
Other forms of this molecule
SLC35A2 F324Lfs*25 [Golgi membrane]
SLC35A2 G8Sfs*9 [Golgi membrane]
SLC35A2 Y145Pfs*76 [Golgi membrane]
SLC35A2 M1? [Golgi membrane]
SLC35A2 [Golgi membrane]
Modified Residues
Name
L-valine 331 replaced with L-isoleucine
Coordinate
331
PsiMod HEY
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type II
0050571
Cross References
RefSeq
NP_001269578.1
,
NP_001269579.1
,
NP_001269580.1
,
NP_001035963.1
,
NP_001027460.1
,
NP_005651.1
,
NP_001269576.1
,
NP_001269577.1
GeneCards
P78381
PRO
P78381
Orphanet
22235
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
IntAct:EBI-10171679 386682
0.556
3
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