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	55315
Gene name	Solute carrier family 29 member 3
Gene symbol	SLC29A3
Synonyms (NCBI Gene)	ENT3HCLAPHJCDPHID
Chromosome	10
Chromosome location	10q22.1
Summary	This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperp

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs780668	C>T	Drug-response, benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs113542201	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs121912583	G>A	Pathogenic	Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs121912584	G>A	Pathogenic	Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs139857136	G>T	Likely-pathogenic	Splice acceptor variant
rs144665176	A>G	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs267607056	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, non coding transcript variant
rs267607058	C>G,T	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs387907066	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs387907067	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs397514626	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs397515429	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs587780462	C>T	Pathogenic	3 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587780463	G>A,C	Pathogenic	Splice donor variant
rs746408350	C>G,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs776960135	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs869025176	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs869025177	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1415833135	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1589220231	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

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Show/Hide all (119)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017125	hsa-miR-335-5p	Microarray	18185580
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT1358333	hsa-miR-3179	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT1358336	hsa-miR-1972	CLIP-seq
MIRT1358337	hsa-miR-3127-3p	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT1358340	hsa-miR-4685-5p	CLIP-seq
MIRT1358341	hsa-miR-4733-3p	CLIP-seq
MIRT1358342	hsa-miR-617	CLIP-seq
MIRT2106164	hsa-miR-103a	CLIP-seq
MIRT2106165	hsa-miR-107	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT2106167	hsa-miR-1236	CLIP-seq
MIRT2106168	hsa-miR-141	CLIP-seq
MIRT2106169	hsa-miR-200a	CLIP-seq
MIRT2106170	hsa-miR-3119	CLIP-seq
MIRT1358333	hsa-miR-3179	CLIP-seq
MIRT2106171	hsa-miR-3689a-3p	CLIP-seq
MIRT2106172	hsa-miR-3689c	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT2106173	hsa-miR-4284	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT2106174	hsa-miR-4639-3p	CLIP-seq
MIRT2106175	hsa-miR-4728-5p	CLIP-seq
MIRT2106176	hsa-miR-4793-3p	CLIP-seq
MIRT2106177	hsa-miR-885-3p	CLIP-seq
MIRT2106178	hsa-miR-942	CLIP-seq
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT2394699	hsa-miR-24	CLIP-seq
MIRT2394700	hsa-miR-3622b-5p	CLIP-seq
MIRT2394701	hsa-miR-3945	CLIP-seq
MIRT2394702	hsa-miR-4253	CLIP-seq
MIRT2106173	hsa-miR-4284	CLIP-seq
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT2106164	hsa-miR-103a	CLIP-seq
MIRT2106165	hsa-miR-107	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT2624505	hsa-miR-1238	CLIP-seq
MIRT2624506	hsa-miR-1245b-5p	CLIP-seq
MIRT2624507	hsa-miR-1273e	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT2624508	hsa-miR-3124-3p	CLIP-seq
MIRT1358337	hsa-miR-3127-3p	CLIP-seq
MIRT2624509	hsa-miR-3127-5p	CLIP-seq
MIRT2624510	hsa-miR-3142	CLIP-seq
MIRT2624511	hsa-miR-3160-3p	CLIP-seq
MIRT2624512	hsa-miR-3173-3p	CLIP-seq
MIRT1358333	hsa-miR-3179	CLIP-seq
MIRT2624513	hsa-miR-361-3p	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT2624514	hsa-miR-4327	CLIP-seq
MIRT2624515	hsa-miR-4428	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT2624516	hsa-miR-4652-5p	CLIP-seq
MIRT2624517	hsa-miR-4663	CLIP-seq
MIRT1358340	hsa-miR-4685-5p	CLIP-seq
MIRT2624518	hsa-miR-4691-5p	CLIP-seq
MIRT2624519	hsa-miR-4755-3p	CLIP-seq
MIRT2624520	hsa-miR-555	CLIP-seq
MIRT2624521	hsa-miR-591	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT1358342	hsa-miR-617	CLIP-seq
MIRT2624522	hsa-miR-720	CLIP-seq
MIRT2106177	hsa-miR-885-3p	CLIP-seq
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT2691040	hsa-miR-1185	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT2624505	hsa-miR-1238	CLIP-seq
MIRT2624506	hsa-miR-1245b-5p	CLIP-seq
MIRT2624507	hsa-miR-1273e	CLIP-seq
MIRT2691041	hsa-miR-1276	CLIP-seq
MIRT2691042	hsa-miR-129-5p	CLIP-seq
MIRT1358336	hsa-miR-1972	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT2624508	hsa-miR-3124-3p	CLIP-seq
MIRT1358337	hsa-miR-3127-3p	CLIP-seq
MIRT2624509	hsa-miR-3127-5p	CLIP-seq
MIRT2624510	hsa-miR-3142	CLIP-seq
MIRT2624511	hsa-miR-3160-3p	CLIP-seq
MIRT2624512	hsa-miR-3173-3p	CLIP-seq
MIRT2691043	hsa-miR-3192	CLIP-seq
MIRT2691044	hsa-miR-339-3p	CLIP-seq
MIRT2691045	hsa-miR-3605-5p	CLIP-seq
MIRT2624513	hsa-miR-361-3p	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT2691046	hsa-miR-3679-5p	CLIP-seq
MIRT2106171	hsa-miR-3689a-3p	CLIP-seq
MIRT2106172	hsa-miR-3689c	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT2624514	hsa-miR-4327	CLIP-seq
MIRT2624515	hsa-miR-4428	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT2624516	hsa-miR-4652-5p	CLIP-seq
MIRT2691047	hsa-miR-4661-3p	CLIP-seq
MIRT2624517	hsa-miR-4663	CLIP-seq
MIRT2691048	hsa-miR-4684-3p	CLIP-seq
MIRT1358340	hsa-miR-4685-5p	CLIP-seq
MIRT2624518	hsa-miR-4691-5p	CLIP-seq
MIRT2106175	hsa-miR-4728-5p	CLIP-seq
MIRT1358341	hsa-miR-4733-3p	CLIP-seq
MIRT2624519	hsa-miR-4755-3p	CLIP-seq
MIRT2691049	hsa-miR-518a-5p	CLIP-seq
MIRT2691050	hsa-miR-527	CLIP-seq
MIRT2624520	hsa-miR-555	CLIP-seq
MIRT2691051	hsa-miR-570	CLIP-seq
MIRT2624521	hsa-miR-591	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT1358342	hsa-miR-617	CLIP-seq
MIRT2691052	hsa-miR-642a	CLIP-seq
MIRT2624522	hsa-miR-720	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IDA	19164483
GO:0005337	Function	Nucleoside transmembrane transporter activity	IBA
GO:0005337	Function	Nucleoside transmembrane transporter activity	IDA	15701636, 20595384, 28729424
GO:0005337	Function	Nucleoside transmembrane transporter activity	IEA
GO:0005337	Function	Nucleoside transmembrane transporter activity	IMP	19164483
GO:0005337	Function	Nucleoside transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	25910212
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	15701636, 17897319
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006837	Process	Serotonin transport	IDA	19164483
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	19164483
GO:0015101	Function	Organic cation transmembrane transporter activity	IDA	19164483
GO:0015205	Function	Nucleobase transmembrane transporter activity	IDA	19164483
GO:0015208	Function	Guanine transmembrane transporter activity	IDA	19164483
GO:0015210	Function	Uracil transmembrane transporter activity	IDA	19164483
GO:0015212	Function	Cytidine transmembrane transporter activity	IDA	19164483
GO:0015213	Function	Uridine transmembrane transporter activity	IDA	19164483, 28729424
GO:0015851	Process	Nucleobase transport	IDA	19164483
GO:0015858	Process	Nucleoside transport	IDA	15701636, 20595384, 28729424
GO:0015858	Process	Nucleoside transport	IEA
GO:0015858	Process	Nucleoside transport	IMP	19164483
GO:0015861	Process	Cytidine transport	IDA	19164483
GO:0015862	Process	Uridine transmembrane transport	IDA	19164483, 28729424
GO:0015872	Process	Dopamine transport	IDA	19164483
GO:0015874	Process	Norepinephrine transport	IDA	19164483
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031902	Component	Late endosome membrane	IDA	15701636
GO:0031902	Component	Late endosome membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032238	Process	Adenosine transport	IDA	15701636, 20595384, 28729424
GO:0032238	Process	Adenosine transport	IEA
GO:0032238	Process	Adenosine transport	IMP	19164483
GO:0035340	Process	Inosine transport	IDA	19164483, 28729424
GO:1901642	Process	Nucleoside transmembrane transport	IDA	15701636, 20595384, 28729424
GO:1901642	Process	Nucleoside transmembrane transport	IEA
GO:1901642	Process	Nucleoside transmembrane transport	IMP	19164483
GO:1903716	Process	Guanine transmembrane transport	IDA	19164483
GO:1903791	Process	Uracil transmembrane transport	IDA	19164483
GO:1904082	Process	Pyrimidine nucleobase transmembrane transport	IDA	19164483
GO:1904823	Process	Purine nucleobase transmembrane transport	IDA	19164483

MIM	HGNC	e!Ensembl
612373	23096	ENSG00000198246

Q9BZD2

Protein name

Equilibrative nucleoside transporter 3 (hENT3) (Solute carrier family 29 member 3)

Protein function

Uniporter that mediates the facilitative transport of nucleoside across lysosomal and mitochondrial membranes (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Functions as a non-electrogenic Na(+)-independent transporter (Pu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01733	Nucleoside_tran	168 → 473	Nucleoside transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in both adult and fetal tissues (PubMed:15701636). Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow (PubMed:15701636). Expressed in liver (PubMed:19164483). Lowest levels in brain and heart

Sequence

MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSL
GIGSLLPWNFFITAKEYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLV
ANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSWTRGFFAVTIVCMVILSGAST
VFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRP
ILKKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADL
CGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSS
LLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI

Sequence length

475

Interactions

View interactions

	KEGG		Reactome
	Alcoholism		Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

491

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Likely pathogenic	rs267607057	RCV005887144
H syndrome	Pathogenic; Likely pathogenic	rs1223982382, rs587780462, rs587780463, rs2131839011, rs2131796660, rs2131797156, rs2131851477, rs1166563034, rs121912583, rs267607056, rs121912584, rs869025176, rs869025177, rs267607057, rs267607058 View all (21 more)	RCV001380759 RCV000118376 RCV000118377 RCV001890965 RCV001930053 RCV002021916 RCV001866549 RCV002005556 RCV000000593 RCV000000594 RCV000000595 RCV000000596 RCV000000597 RCV000000598 RCV000000599 RCV002260484 RCV003062269 RCV002801270 RCV002801271 RCV002999787 RCV003148063 RCV003530748 RCV003531170 RCV003531326 RCV003646058 RCV003646023 RCV000023937 RCV000023938 RCV000023939 RCV005252922 RCV000695799 RCV000023940 RCV000822325 RCV000816718 RCV001069573 RCV001169953 RCV001237894
Pigmentary skin disorders	Pathogenic	rs121912584	RCV006255116
SLC29A3-related disorder	Pathogenic; Likely pathogenic	rs267607058, rs387907067	RCV003398400 RCV003398566
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs139857136	RCV005902062

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acanthosis nigricans	Benign; drug response	rs780668	RCV002221488
Cervical cancer	Benign	rs7086724	RCV005919825
Dysosteosclerosis	Uncertain significance	rs1846497179	RCV001849483
Gastric cancer	Benign	rs77626641	RCV005891843
Gemcitabine response	Benign; drug response	rs780668	RCV000851366
Lung cancer	Benign	rs7086724	RCV005919828
Malignant tumor of esophagus	Benign	rs7086724	RCV005919824
Sarcoma	Benign	rs7086724, rs77626641	RCV005919826 RCV005891842
Uterine carcinosarcoma	Benign	rs7086724	RCV005919827
Uterine corpus endometrial carcinoma	Benign	rs7086724	RCV005919829

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	29751792
Diabetes Mellitus	Associate	31276222, 37897565
Diabetes Mellitus Transient Neonatal 1	Associate	37897565
Diabetes Mellitus Type 1	Associate	22238637, 31276222, 33947670, 34657628
Dykes Markes Harper syndrome	Associate	37897565
Genetic Diseases Inborn	Associate	22238637, 37738562, 37767683
Growth Disorders	Associate	37897565
Hearing Loss	Associate	35732371
Heart Diseases	Associate	33947670
Histiocytosis	Associate	33284430, 34657628, 37738562, 37767683
Histiocytosis Sinus	Associate	22238637, 34657628
Histiocytosis with joint contractures and sensorineural deafness	Associate	22238637, 25963354, 29041934, 33284430, 33947670, 34193201, 34657628, 35732361, 37738562, 37767683, 38263041
Hypertrichosis	Associate	22238637, 34657628
Hypothyroidism	Associate	33947670
Inflammation	Associate	37738562
Leprosy	Associate	28842327
Mucolipidosis III Gamma	Associate	37897565
Neoplasms	Associate	32738187
Rectal Neoplasms	Associate	32738187
Teratoma	Associate	36289533

SLC29A3 (solute carrier family 29 member 3)