SLC29A3 Gene

Aliases
for SLC29A3 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC10P072971 GC10P072427 GC10P072423 GC10P072749 GC10P067074

Summaries
for SLC29A3 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for SLC29A3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000010.10  NT_030059.14  NC_018921.2  

SwitchGear Promoter luciferase reporter plasmid: SLC29A3 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC29A3

SLC29A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P073080:  view genomic region     (about GC identifiers)

Proteins
for SLC29A3 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for SLC29A3: NX_Q9BZD2

Explore proteomics data for SLC29A3 at MOPED

Post-translational modifications: 

SLC29A3 Human Recombinant Protein Products:

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	antibodies-online peptides for SLC29A3

SLC29A3 Antibody Products:

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Domains /
Families
for SLC29A3 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9BZD2

Find genes that share domains with SLC29A3           About GenesLikeMe

Function
for SLC29A3 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 1 molecular function term:    About this table

(inferred from 1 allele) (MGI details for Slc29a3)

genOway: Develop your customized and physiologically relevant rodent model for SLC29A3

miRNA Products:		miRTarBase miRNAs that target SLC29A3: hsa-mir-335-5p (MIRT017125)
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		Selected qRT-PCR Assays for microRNAs that regulate SLC29A3 (see all 9):
		hsa-miR-30c hsa-miR-206 hsa-miR-30d hsa-miR-1 hsa-miR-30a hsa-miR-1207-3p hsa-miR-30b hsa-miR-613
		SwitchGear 3'UTR luciferase reporter plasmid: SLC29A3 3' UTR sequence

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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A3

Localization
for SLC29A3 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
endosome	5
lysosome	5
vacuole	5
plasma membrane	3

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Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for SLC29A3 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for SLC29A3 About     See pathways by source

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	SuperPath	Contained pathways About
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	SLC-mediated transmembrane transport 0.47 Transmembrane transport of small molecules 0.47
2	Transport of vitamins, nucleosides, and related molecules	Transport of vitamins, nucleosides, and related molecules Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane 0.00

1 Reactome Pathway for SLC29A3

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

Gene Ontology (GO): 3 biological process terms:    About this table

Drugs & Compounds
for SLC29A3 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for SLC29A3 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for SLC29A3 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SLC29A3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCAAAGCCAT

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Blood (Hematopoietic System)
Monocytes Peripheral Blood

Primer Products:		OriGene qPCR primer pairs and template standards for SLC29A3 OriGene qSTAR qPCR primer pairs in human, mouse for SLC29A3
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A3

Orthologs
for SLC29A3 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for SLC29A3 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for SLC29A3 gene

SLC29A4²  SLC29A1²  SLC29A2²  

2 SIMAP similar genes for SLC29A3 using alignment to 1 protein entry:     S29A3_HUMAN:

SLC29A1    SLC29A2

Find genes that share paralogs with SLC29A3           About GenesLikeMe

Genomic Variants
for SLC29A3 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SLC29A3 (see all 1102)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1219125831,2,,4	C	Histiocytosis-lymphadenopathy plus syndrome (HLAS)4 pathogenic1	73495946(+)	GCAACA/GGCTAC	5	S G	mis1 ut31		0	--	--	--	--
VAR_0678044		Histiocytosis-lymphadenopathy plus syndrome (HLAS)4	--	see VAR_067804	2	S R	mis4		0	--	--	--	--
VAR_0678014		Histiocytosis-lymphadenopathy plus syndrome (HLAS)4	--	see VAR_067801	2	M R	mis4		0	--	--	--	--
VAR_0678094		Histiocytosis-lymphadenopathy plus syndrome (HLAS)4	--	see VAR_067809	2	T R	mis4		0	--	--	--	--
VAR_0678024		Histiocytosis-lymphadenopathy plus syndrome (HLAS)4	--	see VAR_067802	2	R C	mis4		0	--	--	--	--
VAR_0678074		Histiocytosis-lymphadenopathy plus syndrome (HLAS)4	--	see VAR_067807	2	R W	mis4		0	--	--	--	--
VAR_0678064		Histiocytosis-lymphadenopathy plus syndrome (HLAS)4	--	see VAR_067806	2	R Q	mis4		0	--	--	--	--
rs2676070571,2	C	pathogenic1	73477748(+)	CTCCAG/TGCTGT	6	R M	mis1 int1		0	--	--	--	--
rs1433545441,2	C	--	67088753(+)	TTTTC-/TTTTTTT	4	--	int1		0	--	--	--	--
rs105526051,2	C	--	67099473(+)	CCTTC-/GAAG           CTAGG	4	--	int1		2		NA CSA	4

HapMap Linkage Disequilibrium report for SLC29A3 (73079010 - 73123147 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SLC29A3:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv467371	CNV	Gain	19166990

Human Gene Mutation Database (HGMD): SLC29A3
Locus Specific Mutation Databases (LSDB): SLC29A3

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SLC29A3

DNA2.0 Custom Variant and Variant Library Synthesis for SLC29A3

Disorders / Diseases
for SLC29A3 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for SLC29A3 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC29A3 gene, integrated from 10 sources (see all 31): (articles sorted by number of sources associating them with SLC29A3)

Utopia: connect your pdf to the dynamic world of online information

1. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms. (PubMed id 11396612)^{1, 2, 3} Hyde R.J.... Baldwin S.A. (Mol. Membr. Biol. 2001)
2. The H syndrome is caused by mutations in the nucleoside transporter hENT3. (PubMed id 18940313)^{1, 2, 9} Molho-Pessach V.... Zlotogorski A. (Am. J. Hum. Genet. 2008)
3. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PubMed id 20392501)^{1, 4} Gass N....Paunio T. (J Affect Disord 2010)
4. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. (PubMed id 19889517)^{1, 2} Molho-Pessach V....Zlotogorski A. (J. Dermatol. Sci. 2010)
5. H syndrome: novel and recurrent mutations in SLC29A3. (PubMed id 20199539)^{1, 2} Priya T.P....Zlotogorski A. (Br. J. Dermatol. 2010)
6. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. (PubMed id 20595384)^{1, 2} Kang N....Govindarajan R. (J. Biol. Chem. 2010)
7. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. (PubMed id 20140240)^{1, 2} Morgan N.V.... Maher E.R. (PLoS Genet. 2010)
8. [Relationship between single nucleotide polymorphism of the equilibrative nucleoside transporter ENT3 and susceptibility to lung cancer]. (PubMed id 20677642)^{1, 4} Li X....Zhou C. (Zhongguo Fei Ai Za Zhi 2010)
9. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin- dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. (PubMed id 19336477)^{1, 2} Cliffe S.T.... Buckley M.F. (Hum. Mol. Genet. 2009)
10. Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. (PubMed id 19581757)^{1, 4} Edghill E.L....Attersley A.T. (JOP 2009)

External Searches for SLC29A3 gene

Genome Databases showing SLC29A3 gene

Other Databases showing SLC29A3 gene

Specialized Databases showing SLC29A3 gene

Products
for SLC29A3 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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