Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7355
Gene name	Solute carrier family 35 member A2
Gene symbol	SLC35A2
Synonyms (NCBI Gene)	CDG2MCDGXUDP-Gal-TrUGALTUGATUGTUGT1UGT2UGTL
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycan

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776961	C>T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs587776962	C>T	Pathogenic	Missense variant, intron variant, initiator codon variant
rs587777434	AT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587777435	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587777436	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs782113085	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs869312860	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1042469070	T>C	Likely-pathogenic	Initiator codon variant, intron variant, missense variant
rs1057518194	GAG>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1057518719	ACGA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057519000	CACTGCAGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1131691973	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1557042808	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557042824	CGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1557043131	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557043133	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1557043622	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1557044030	GATCCCGACCTCCGCCTCCCATGCGACTGCTCGGGCAGACTGTCTCACCCGCACTGGCGGTCCCCGGCTCCAATGCACCCGCGGAAACCGCCCCTGGCCCGGGCGCCGCGGTGGAACCACCAGCC>T	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1569511572	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1602338615	GA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602338996	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1602340350	CAT>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs1602344901	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1602347861	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602347908	A>T	Likely-pathogenic	Missense variant, initiator codon variant, intron variant

Show/Hide all (99)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022815	hsa-miR-124-3p	Microarray	18668037
MIRT046822	hsa-miR-222-3p	CLASH	23622248
MIRT653603	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653602	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653601	hsa-miR-4780	HITS-CLIP	23824327
MIRT653600	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT653599	hsa-miR-581	HITS-CLIP	23824327
MIRT653598	hsa-miR-3657	HITS-CLIP	23824327
MIRT653597	hsa-miR-4669	HITS-CLIP	23824327
MIRT653596	hsa-miR-623	HITS-CLIP	23824327
MIRT653595	hsa-miR-592	HITS-CLIP	23824327
MIRT653603	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653602	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653601	hsa-miR-4780	HITS-CLIP	23824327
MIRT653600	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT653599	hsa-miR-581	HITS-CLIP	23824327
MIRT653598	hsa-miR-3657	HITS-CLIP	23824327
MIRT653597	hsa-miR-4669	HITS-CLIP	23824327
MIRT653596	hsa-miR-623	HITS-CLIP	23824327
MIRT653595	hsa-miR-592	HITS-CLIP	23824327
MIRT1360093	hsa-miR-4690-3p	CLIP-seq
MIRT1360094	hsa-miR-4699-3p	CLIP-seq
MIRT1360095	hsa-miR-4733-5p	CLIP-seq
MIRT1360096	hsa-miR-548p	CLIP-seq
MIRT1360097	hsa-miR-760	CLIP-seq
MIRT1360098	hsa-miR-2110	CLIP-seq
MIRT1360099	hsa-miR-3150a-3p	CLIP-seq
MIRT1360100	hsa-miR-3175	CLIP-seq
MIRT1360101	hsa-miR-329	CLIP-seq
MIRT1360102	hsa-miR-362-3p	CLIP-seq
MIRT1360103	hsa-miR-3936	CLIP-seq
MIRT1360104	hsa-miR-4260	CLIP-seq
MIRT1360105	hsa-miR-582-5p	CLIP-seq
MIRT1360106	hsa-miR-939	CLIP-seq
MIRT1360107	hsa-miR-1207-3p	CLIP-seq
MIRT1360108	hsa-miR-1289	CLIP-seq
MIRT1360109	hsa-miR-133a	CLIP-seq
MIRT1360110	hsa-miR-133b	CLIP-seq
MIRT1360111	hsa-miR-1825	CLIP-seq
MIRT1360112	hsa-miR-199a-5p	CLIP-seq
MIRT1360113	hsa-miR-199b-5p	CLIP-seq
MIRT1360114	hsa-miR-3618	CLIP-seq
MIRT1360115	hsa-miR-4270	CLIP-seq
MIRT1360116	hsa-miR-4281	CLIP-seq
MIRT1360117	hsa-miR-4441	CLIP-seq
MIRT1360118	hsa-miR-4640-5p	CLIP-seq
MIRT1360119	hsa-miR-4726-5p	CLIP-seq
MIRT1360120	hsa-miR-934	CLIP-seq
MIRT1360105	hsa-miR-582-5p	CLIP-seq
MIRT1360107	hsa-miR-1207-3p	CLIP-seq
MIRT1360109	hsa-miR-133a	CLIP-seq
MIRT1360110	hsa-miR-133b	CLIP-seq
MIRT1360116	hsa-miR-4281	CLIP-seq
MIRT1360118	hsa-miR-4640-5p	CLIP-seq
MIRT1360119	hsa-miR-4726-5p	CLIP-seq
MIRT1360111	hsa-miR-1825	CLIP-seq
MIRT2330848	hsa-miR-198	CLIP-seq
MIRT1360112	hsa-miR-199a-5p	CLIP-seq
MIRT1360113	hsa-miR-199b-5p	CLIP-seq
MIRT1360098	hsa-miR-2110	CLIP-seq
MIRT2330849	hsa-miR-2355-3p	CLIP-seq
MIRT1360099	hsa-miR-3150a-3p	CLIP-seq
MIRT1360100	hsa-miR-3175	CLIP-seq
MIRT2330850	hsa-miR-3620	CLIP-seq
MIRT1360103	hsa-miR-3936	CLIP-seq
MIRT1360104	hsa-miR-4260	CLIP-seq
MIRT2330851	hsa-miR-4646-3p	CLIP-seq
MIRT2330852	hsa-miR-4728-5p	CLIP-seq
MIRT1360105	hsa-miR-582-5p	CLIP-seq
MIRT1360106	hsa-miR-939	CLIP-seq
MIRT2625090	hsa-miR-1238	CLIP-seq
MIRT2625091	hsa-miR-3183	CLIP-seq
MIRT1360101	hsa-miR-329	CLIP-seq
MIRT2625092	hsa-miR-335	CLIP-seq
MIRT1360102	hsa-miR-362-3p	CLIP-seq
MIRT2625093	hsa-miR-377	CLIP-seq
MIRT2625094	hsa-miR-3923	CLIP-seq
MIRT2625095	hsa-miR-4305	CLIP-seq
MIRT2625096	hsa-miR-4457	CLIP-seq
MIRT2625097	hsa-miR-4723-3p	CLIP-seq
MIRT2625098	hsa-miR-4761-5p	CLIP-seq
MIRT2625099	hsa-miR-509-3p	CLIP-seq
MIRT2625100	hsa-miR-513b	CLIP-seq
MIRT2625101	hsa-miR-520a-5p	CLIP-seq
MIRT2625102	hsa-miR-525-5p	CLIP-seq
MIRT2625103	hsa-miR-628-3p	CLIP-seq
MIRT2625104	hsa-miR-640	CLIP-seq
MIRT2625105	hsa-miR-802	CLIP-seq
MIRT2625090	hsa-miR-1238	CLIP-seq
MIRT2691136	hsa-miR-3136-3p	CLIP-seq
MIRT2625091	hsa-miR-3183	CLIP-seq
MIRT2691137	hsa-miR-320e	CLIP-seq
MIRT2625092	hsa-miR-335	CLIP-seq
MIRT2691138	hsa-miR-3922-5p	CLIP-seq
MIRT2625095	hsa-miR-4305	CLIP-seq
MIRT2691139	hsa-miR-4717-5p	CLIP-seq
MIRT2625097	hsa-miR-4723-3p	CLIP-seq
MIRT2691140	hsa-miR-4753-5p	CLIP-seq
MIRT2625099	hsa-miR-509-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	28167211
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005459	Function	UDP-galactose transmembrane transporter activity	IBA
GO:0005459	Function	UDP-galactose transmembrane transporter activity	TAS	9010752
GO:0005515	Function	Protein binding	IPI	23089177, 28167211, 32296183, 32827291, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	21918738
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	21918738
GO:0005794	Component	Golgi apparatus	IEA
GO:0006012	Process	Galactose metabolic process	TAS	9010752
GO:0015165	Function	Pyrimidine nucleotide-sugar transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0072334	Process	UDP-galactose transmembrane transport	IBA
GO:0072334	Process	UDP-galactose transmembrane transport	IMP	23561849
GO:0072334	Process	UDP-galactose transmembrane transport	TAS	9010752
GO:0090481	Process	Pyrimidine nucleotide-sugar transmembrane transport	IEA

MIM	HGNC	e!Ensembl
314375	11022	ENSG00000102100

P78381

Protein name

UDP-galactose translocator (Solute carrier family 35 member A2) (UDP-galactose transporter) (UDP-Gal-Tr) (UGT)

Protein function

Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP (PubMed:12682060, PubMed:9010752). It is also able to exchange UDP-galactose fo

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04142	Nuc_sug_transp	31 → 339	Nucleotide-sugar transporter	Family

Sequence

MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTL
PGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSL
IYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVA
IVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFA
TSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCV
HQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS

Sequence length

396

Interactions

View interactions

	Reactome
			Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Transport of nucleotide sugars

305

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of glycosylation	Likely pathogenic	rs2519651770	RCV003152647
Epileptic encephalopathy	Likely pathogenic	rs1057519000	RCV000415123
non-lesional focal epilepsy	Likely pathogenic; Pathogenic	rs1557043650, rs2147486766, rs2147486180, rs2147489679, rs1602338615	RCV001849582 RCV001849583 RCV001849886 RCV001849887 RCV001849444
SLC35A2-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs2063491273, rs2063477224, rs2147486684, rs2147487247, rs2147489491, rs2147487028, rs2147489736, rs2147486594, rs587777434, rs587777435, rs587777436, rs2147489558, rs2147496735, rs1042469070, rs869312860 View all (25 more)	RCV001331522 RCV001346389 RCV001374456 RCV001374458 RCV001374455 RCV001384855 RCV001385378 RCV001814875 RCV000122744 RCV000122745 RCV000122746 RCV001997611 RCV001956129 RCV002246722 RCV000210405 RCV003148558 RCV003321453 RCV003582886 RCV003582065 RCV003742164 RCV003740887 RCV000415221 RCV002286410 RCV000469944 RCV000560194 RCV000651307 RCV000766228 RCV000043514 RCV000043515 RCV000043516 RCV000785980 RCV000823050 RCV000990814 RCV000990815 RCV000990816 RCV001004665 RCV001063440 RCV001050910 RCV002557952 RCV001265566 RCV001289474

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Uncertain significance	rs782347244	RCV003328510
Developmental and epileptic encephalopathy, 1	Uncertain significance	rs1557042706	RCV000626159
Lung cancer	Conflicting classifications of pathogenicity	rs1060503677	RCV005899508
See cases	Uncertain significance	rs782610009, rs2147484554	RCV002253176 RCV002252506
SLC35A2-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs782206039, rs1452748811, rs781951327, rs2147487234, rs782610009, rs1557042717, rs2063539150, rs782406865, rs1230449596, rs190055560, rs373480204, rs374961453	RCV003940893 RCV003921213 RCV004753504 RCV003403670 RCV003933711 RCV004753566 RCV003397349 RCV003921773 RCV003911864 RCV003924472 RCV003905442 RCV003948055
X-linked complex neurodevelopmental disorder	Uncertain significance	rs1557044209	RCV005370186

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	29907092
Atrophy	Associate	29907092, 31231989
Basal Ganglia Diseases	Associate	35441233
Brain Diseases	Associate	29679388, 36307217
Breast Neoplasms	Associate	36267313, 36593004, 38143314
Carcinogenesis	Associate	37467193
Carcinoma Non Small Cell Lung	Associate	33595913, 37275857
Cataract congenital with microcornea or slight microphthalmia	Associate	23561849
Colonic Neoplasms	Inhibit	28049773
Colorectal Neoplasms	Associate	28049773, 37889544, 40303483
Congenital Disorders of Glycosylation	Associate	23561849, 27391121, 29679388, 29869806, 29907092, 30194038, 31231989, 33407896, 34440401, 37069668, 37278968
Demyelinating Diseases	Associate	31231989
Developmental Disabilities	Associate	26740508, 29907092, 31231989
Drug Resistant Epilepsy	Associate	36307217
Dwarfism Pituitary	Associate	29907092
Epilepsies Partial	Associate	29679388
Epilepsy	Associate	29679388, 31231989, 36226386, 39344240
Epileptic Encephalopathy Early Infantile 3	Associate	30194038
Failure to Thrive	Associate	29907092
Galactosemias	Associate	23561849
Glycogen Storage Disease XIV	Associate	29907092
Growth Disorders	Associate	29907092
Heart Diseases	Associate	30194038
Hyperplasia	Associate	35706131
Hypoxia Brain	Stimulate	15141079
Immune System Diseases	Associate	37275857
Intellectual Disability	Associate	30194038, 36307217
Lymphatic Metastasis	Stimulate	37889544
Macular dystrophy corneal type 1	Associate	31444548
Malformations of Cortical Development	Associate	29679388, 33407896, 35706131, 36226386
Melanoma Cutaneous Malignant	Associate	37275857
Microsatellite Instability	Associate	37467193
Muscle Hypotonia	Associate	29907092, 31231989
Muscle Spasticity	Associate	31231989
Musculoskeletal Abnormalities	Associate	30194038
Neoplasms	Associate	15141079, 28049773, 36593004, 37275857, 37467193
Neoplasms	Stimulate	37889544, 40303483
Neurologic Manifestations	Associate	36307217
Paraplegia	Associate	31231989
Psychomotor Disorders	Associate	31231989
Rett Syndrome	Associate	26740508
Seizures	Associate	31231989, 36307217
Spasm	Associate	36307217
Spasms Infantile	Associate	30194038, 31394400
Stomach Neoplasms	Associate	37467193
Urinary Bladder Neoplasms	Associate	37275857
Vision Disorders	Associate	26350515, 30194038

SLC35A2 (solute carrier family 35 member A2)