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	23443
Gene name	Solute carrier family 35 member A3
Gene symbol	SLC35A3
Synonyms (NCBI Gene)	AMRS
Chromosome	1
Chromosome location	1p21.2
Summary	This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by Re

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141952252	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs398122524	C>T	Pathogenic	Coding sequence variant, stop gained
rs866803539	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1570615526	->T	Pathogenic	Splice donor variant
rs1570625903	->AG	Pathogenic	Coding sequence variant, frameshift variant, intron variant

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019858	hsa-miR-375	Microarray	20215506
MIRT699367	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT699366	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT699365	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT699364	hsa-miR-1292-3p	HITS-CLIP	23313552
MIRT699363	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT699362	hsa-miR-1273c	HITS-CLIP	23313552
MIRT699361	hsa-miR-1273a	HITS-CLIP	23313552
MIRT699360	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT699359	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT625252	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT625251	hsa-miR-3159	HITS-CLIP	23824327
MIRT625250	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT625248	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625252	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT625251	hsa-miR-3159	HITS-CLIP	23824327
MIRT625250	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT625248	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625252	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT625251	hsa-miR-3159	HITS-CLIP	23824327
MIRT625250	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT625249	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT625248	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT699367	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT699366	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT699365	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT699364	hsa-miR-1292-3p	HITS-CLIP	23313552
MIRT699363	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT699362	hsa-miR-1273c	HITS-CLIP	23313552
MIRT699361	hsa-miR-1273a	HITS-CLIP	23313552
MIRT699360	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT699359	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT625252	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT625251	hsa-miR-3159	HITS-CLIP	23824327
MIRT625250	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT625248	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625252	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT625251	hsa-miR-3159	HITS-CLIP	23824327
MIRT625250	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT625248	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625252	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT625251	hsa-miR-3159	HITS-CLIP	23824327
MIRT625250	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT625249	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT625248	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT1360121	hsa-miR-1272	CLIP-seq
MIRT1360122	hsa-miR-1305	CLIP-seq
MIRT1360123	hsa-miR-19a	CLIP-seq
MIRT1360124	hsa-miR-19b	CLIP-seq
MIRT1360125	hsa-miR-27a	CLIP-seq
MIRT1360126	hsa-miR-27b	CLIP-seq
MIRT1360127	hsa-miR-3137	CLIP-seq
MIRT1360128	hsa-miR-3189-5p	CLIP-seq
MIRT1360129	hsa-miR-3664-5p	CLIP-seq
MIRT1360130	hsa-miR-3671	CLIP-seq
MIRT1360131	hsa-miR-3682-3p	CLIP-seq
MIRT1360132	hsa-miR-3682-5p	CLIP-seq
MIRT1360133	hsa-miR-371-3p	CLIP-seq
MIRT1360134	hsa-miR-371b-3p	CLIP-seq
MIRT1360135	hsa-miR-374a	CLIP-seq
MIRT1360136	hsa-miR-374b	CLIP-seq
MIRT1360137	hsa-miR-383	CLIP-seq
MIRT1360138	hsa-miR-3909	CLIP-seq
MIRT1360139	hsa-miR-4282	CLIP-seq
MIRT1360140	hsa-miR-4291	CLIP-seq
MIRT1360141	hsa-miR-4310	CLIP-seq
MIRT1360142	hsa-miR-4330	CLIP-seq
MIRT1360143	hsa-miR-4434	CLIP-seq
MIRT1360144	hsa-miR-4494	CLIP-seq
MIRT1360145	hsa-miR-4516	CLIP-seq
MIRT1360146	hsa-miR-4522	CLIP-seq
MIRT1360147	hsa-miR-4531	CLIP-seq
MIRT1360148	hsa-miR-4696	CLIP-seq
MIRT1360149	hsa-miR-4758-3p	CLIP-seq
MIRT1360150	hsa-miR-4760-3p	CLIP-seq
MIRT1360151	hsa-miR-4772-5p	CLIP-seq
MIRT1360152	hsa-miR-4775	CLIP-seq
MIRT1360153	hsa-miR-4802-5p	CLIP-seq
MIRT1360154	hsa-miR-499a-5p	CLIP-seq
MIRT1360155	hsa-miR-5096	CLIP-seq
MIRT1360156	hsa-miR-513a-5p	CLIP-seq
MIRT1360157	hsa-miR-515-3p	CLIP-seq
MIRT1360158	hsa-miR-519e	CLIP-seq
MIRT1360159	hsa-miR-539	CLIP-seq
MIRT1360160	hsa-miR-548aa	CLIP-seq
MIRT1360161	hsa-miR-548ac	CLIP-seq
MIRT1360162	hsa-miR-548d-3p	CLIP-seq
MIRT1360163	hsa-miR-548z	CLIP-seq
MIRT1360164	hsa-miR-590-3p	CLIP-seq
MIRT1360165	hsa-miR-607	CLIP-seq
MIRT1360166	hsa-miR-942	CLIP-seq
MIRT1360167	hsa-miR-944	CLIP-seq
MIRT2330853	hsa-miR-127-5p	CLIP-seq
MIRT2330854	hsa-miR-4274	CLIP-seq
MIRT2330855	hsa-miR-4635	CLIP-seq
MIRT2625106	hsa-miR-147	CLIP-seq
MIRT2625107	hsa-miR-518a-5p	CLIP-seq
MIRT2625108	hsa-miR-527	CLIP-seq
MIRT2625106	hsa-miR-147	CLIP-seq
MIRT2691141	hsa-miR-153	CLIP-seq
MIRT2625107	hsa-miR-518a-5p	CLIP-seq
MIRT2625108	hsa-miR-527	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	23766508, 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	IEA
GO:0005462	Function	UDP-N-acetylglucosamine transmembrane transporter activity	TAS	10393322
GO:0005515	Function	Protein binding	IPI	23089177, 28167211, 34981577
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	10393322
GO:0006047	Process	UDP-N-acetylglucosamine metabolic process	TAS	10393322
GO:0015165	Function	Pyrimidine nucleotide-sugar transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0072334	Process	UDP-galactose transmembrane transport	IEA
GO:0090481	Process	Pyrimidine nucleotide-sugar transmembrane transport	IEA
GO:1990569	Process	UDP-N-acetylglucosamine transmembrane transport	IEA
GO:1990569	Process	UDP-N-acetylglucosamine transmembrane transport	IMP	23089177
GO:1990569	Process	UDP-N-acetylglucosamine transmembrane transport	TAS	10393322

MIM	HGNC	e!Ensembl
605632	11023	ENSG00000117620

Q9Y2D2

Protein name

UDP-N-acetylglucosamine transporter (Golgi UDP-GlcNAc transporter) (Solute carrier family 35 member A3)

Protein function

Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP (PubMed:10393322). May supply UDP-GlcNAc as subs

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04142	Nuc_sug_transp	1 → 313	Nucleotide-sugar transporter	Family

Sequence

MFANLKYVSLGILVFQTTSLVLTMRYSRTLKEEGPRYLSSTAVVVAELLKIMACILLVYK
DSKCSLRALNRVLHDEILNKPMETLKLAIPSGIYTLQNNLLYVALSNLDAATYQVTYQLK
ILTTALFSVSMLSKKLGVYQWLSLVILMTGVAFVQWPSDSQLDSKELSAGSQFVGLMAVL
TACFSSGFAGVYFEKILKETKQSVWIRNIQLGFFGSIFGLMGVYIYDGELVSKNGFFQGY
NRLTWIVVVLQALGGLVIAAVIKYADNILKGFATSLSIILSTLISYFWLQDFVPTSVFFL
GAILVITATFLYGYDPKPAGNPTKA

Sequence length

325

Interactions

View interactions

	Reactome
			Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Transport of nucleotide sugars

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Pathogenic; Likely pathogenic	rs1316448163, rs778502240, rs2101195764, rs1659624849, rs2101370069, rs1332257684, rs2101133098, rs775151826, rs1660258358, rs2101501082, rs2101132521, rs2524627674, rs2524360459, rs2524602049, rs2524558926 View all (19 more)	RCV001382330 RCV001384087 RCV001381427 RCV001987403 RCV001939461 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Likely benign; Benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER, EPILEPSY, ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC35A3-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	24031089, 28777481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES	Arthrogryposis, Mental Retardation, And Seizures	GENOMICS_ENGLAND_DG	16344554, 24031089		★★★★★ ★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES	Arthrogryposis, Mental Retardation, And Seizures	ORPHANET_DG	24031089		★★★★★ ★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES	Arthrogryposis, Mental Retardation, And Seizures	CLINVAR_DG	24031089		★★★★★ ★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES	Arthrogryposis, Mental Retardation, And Seizures	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24031089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28777481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASDB_DG	19578366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38172565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	29869806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	29869806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28328131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28328131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASDB_DG	19578366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33418078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	BEFREE	28777481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	28777481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24031089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	28777481		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC35A3 (solute carrier family 35 member A3)