SLC28A3 (solute carrier family 28 member 3)

Gene

• Entrez ID: 64078
• Gene name: Solute carrier family 28 member 3
• Gene symbol: SLC28A3
• Synonyms (NCBI Gene): CNT3
• Chromosome: 9
• Chromosome location: 9q21.32-q21.33
• Summary: Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs885004	G>A	Drug-response	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1358135	hsa-miR-1226	CLIP-seq
MIRT1358136	hsa-miR-1246	CLIP-seq
MIRT1358137	hsa-miR-1290	CLIP-seq
MIRT1358138	hsa-miR-29a	CLIP-seq
MIRT1358139	hsa-miR-29b	CLIP-seq
MIRT1358140	hsa-miR-29c	CLIP-seq
MIRT1358141	hsa-miR-3167	CLIP-seq
MIRT1358142	hsa-miR-320a	CLIP-seq
MIRT1358143	hsa-miR-320b	CLIP-seq
MIRT1358144	hsa-miR-320c	CLIP-seq
MIRT1358145	hsa-miR-320d	CLIP-seq
MIRT1358146	hsa-miR-338-3p	CLIP-seq
MIRT1358147	hsa-miR-3973	CLIP-seq
MIRT1358148	hsa-miR-4268	CLIP-seq
MIRT1358149	hsa-miR-4429	CLIP-seq
MIRT1358150	hsa-miR-4448	CLIP-seq
MIRT1358151	hsa-miR-4503	CLIP-seq
MIRT1358152	hsa-miR-4680-5p	CLIP-seq
MIRT1358153	hsa-miR-485-5p	CLIP-seq
MIRT1358154	hsa-miR-502-5p	CLIP-seq
MIRT1358155	hsa-miR-518a-5p	CLIP-seq
MIRT1358156	hsa-miR-527	CLIP-seq
MIRT1358157	hsa-miR-548a-3p	CLIP-seq
MIRT1358158	hsa-miR-548a-5p	CLIP-seq
MIRT1358159	hsa-miR-548ab	CLIP-seq
MIRT1358160	hsa-miR-548ak	CLIP-seq
MIRT1358161	hsa-miR-548b-5p	CLIP-seq
MIRT1358162	hsa-miR-548c-5p	CLIP-seq
MIRT1358163	hsa-miR-548d-5p	CLIP-seq
MIRT1358164	hsa-miR-548e	CLIP-seq
MIRT1358165	hsa-miR-548f	CLIP-seq
MIRT1358166	hsa-miR-548h	CLIP-seq
MIRT1358167	hsa-miR-548i	CLIP-seq
MIRT1358168	hsa-miR-548j	CLIP-seq
MIRT1358169	hsa-miR-548w	CLIP-seq
MIRT1358170	hsa-miR-548y	CLIP-seq
MIRT1358171	hsa-miR-559	CLIP-seq
MIRT1358172	hsa-miR-634	CLIP-seq
MIRT1358173	hsa-miR-660	CLIP-seq
MIRT1358174	hsa-miR-876-5p	CLIP-seq
MIRT1358175	hsa-miR-877	CLIP-seq
MIRT1358176	hsa-miR-935	CLIP-seq
MIRT1358173	hsa-miR-660	CLIP-seq
MIRT2459640	hsa-miR-515-5p	CLIP-seq
MIRT2459641	hsa-miR-548aa	CLIP-seq
MIRT2459642	hsa-miR-548ac	CLIP-seq
MIRT2459643	hsa-miR-548d-3p	CLIP-seq
MIRT2459644	hsa-miR-548z	CLIP-seq
MIRT2624481	hsa-miR-4291	CLIP-seq
MIRT2624482	hsa-miR-4310	CLIP-seq
MIRT2624483	hsa-miR-759	CLIP-seq
MIRT2691035	hsa-miR-208a	CLIP-seq
MIRT2691036	hsa-miR-208b	CLIP-seq
MIRT2691037	hsa-miR-3617	CLIP-seq
MIRT2691038	hsa-miR-499-5p	CLIP-seq
MIRT2459640	hsa-miR-515-5p	CLIP-seq
MIRT2691039	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005337	Function	Nucleoside transmembrane transporter activity	IEA
GO:0005345	Function	Purine nucleobase transmembrane transporter activity	NAS	22492015
GO:0005415	Function	Nucleoside:sodium symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	26481311
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006855	Process	Xenobiotic transmembrane transport	TAS
GO:0015213	Function	Uridine transmembrane transporter activity	IDA	22492015
GO:0015293	Function	Symporter activity	IEA
GO:0015389	Function	Pyrimidine- and adenosine-specific:sodium symporter activity	IBA
GO:0015389	Function	Pyrimidine- and adenosine-specific:sodium symporter activity	IEA
GO:0015390	Function	Purine-specific nucleoside:sodium symporter activity	IBA
GO:0015390	Function	Purine-specific nucleoside:sodium symporter activity	IEA
GO:0015855	Process	Pyrimidine nucleobase transport	IEA
GO:0015860	Process	Purine nucleoside transmembrane transport	IBA
GO:0015860	Process	Purine nucleoside transmembrane transport	IEA
GO:0015862	Process	Uridine transmembrane transport	IDA	22492015
GO:0015864	Process	Pyrimidine nucleoside transport	IBA
GO:0015864	Process	Pyrimidine nucleoside transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0072531	Process	Pyrimidine-containing compound transmembrane transport	IDA	22492015
GO:1901642	Process	Nucleoside transmembrane transport	IDA	22492015
GO:1901642	Process	Nucleoside transmembrane transport	IEA
GO:1904823	Process	Purine nucleobase transmembrane transport	NAS	22492015

Other IDs

• MIM: 608269
• HGNC: 16484
• e!Ensembl: ENSG00000197506

Protein

• UniProt ID: Q9HAS3
• Protein name: Solute carrier family 28 member 3 (Concentrative Na(+)-nucleoside cotransporter 3) (CNT 3) (hCNT3)
• Protein function: Sodium-dependent, pyrimidine- and purine-selective (PubMed:11032837, PubMed:15861042, PubMed:16446384, PubMed:17140564, PubMed:21998139). Involved in the homeostasis of endogenous nucleosides (PubMed:11032837, PubMed:15861042). Exhibits the tran
• PDB: 6KSW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01773	Nucleos_tra2_N	205 → 277	Na+ dependent nucleoside transporter N-terminus	Family
  PF07670	Gate	285 → 385	Nucleoside recognition	Domain
  PF07662	Nucleos_tra2_C	388 → 612	Na+ dependent nucleoside transporter C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in pancreas, bone marrow, trachea, mammary gland, liver, prostate, and regions of intestine, brain, lung, placenta, testis, kidney, and heart. {ECO:0000269|PubMed:11032837}.
• Sequence:

  MELRSTAAPRAEGYSNVGFQNEENFLENENTSGNNSIRSRAVQSREHTNTKQDEEQVTVE
  QDSPRNREHMEDDDEEMQQKGCLERRYDTVCGFCRKHKTTLRHIIWGILLAGYLVMVISA
  CVLNFHRALPLFVITVAAIFFVVWDHLMAKYEHRIDEMLSPGRRLLNSHWFWLKWVIWSS
  LVLAVIFWLAFDTAKLGQQQLVSFGGLIMYIVLLFLFSKYPTRVYWRPVLWGIGLQFLLG
  LLILRTDPGFIAFDWLGRQVQTFLEYTDAGASFVFGEKYKDHFFAFKVLPIVVFFSTVMS
  MLYYLGLMQWIIRKVGWIMLVTTGSSPIESVVASGNIFVGQTESPLLVRPYLPYITKSEL
  HAIMTAGFSTIAGSVLGAYISFGVPSSHLLTASVMSAPASLAAAKLFWPETEKPKITLKN
  AMKMESGDSGNLLEAATQGASSSISLVANIAVNLIAFLALLSFMNSALSWFGNMFDYPQL
  SFELICSYIFMPFSFMMGVEWQDSFMVARLIGYKTFFNEFVAYEHLSKWIHLRKEGGPKF
  VNGVQQYISIRSEIIATYALCGFANIGSLGIVIGGLTSMAPSRKRDIASGAVRALIAGTV
  ACFMTACIAGILSSTPVDINCHHVLENAFNSTFPGNTTKVIACCQSLLSSTVAKGPGEVI
  PGGNHSLYSLKGCCTLLNPSTFNCNGISNTF

• Sequence length: 691

Pathways

Reactome:

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29970035		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29970035		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23195617, 26071337		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	23195617	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25890497, 27604902		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31741324		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25823784		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	26418006		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30351207		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30351207	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29970035		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15454483, 30778771		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26481311		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36952646	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28621555		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26481311		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25955569		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	20028759		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	LHGDN	17926640		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28672935		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	27197003		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29228579, 30159135		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27604902		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	20028759		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27604902		★☆☆☆☆ Found in Text Mining only