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Aliases for SLC23A3 Gene

Aliases for SLC23A3 Gene

  • Solute Carrier Family 23 Member 3 2 3 5
  • Sodium-Dependent Vitamin C Transporter 3 3 4
  • Na(+)/L-Ascorbic Acid Transporter 3 3 4
  • HPC E2-Binding Protein 3 3 4
  • E2BP3 3 4
  • SVCT3 3 4
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 3 3
  • Solute Carrier Family 23, Member 3 2
  • E2-Binding Protein 3 3
  • Yspl1 3

External Ids for SLC23A3 Gene

Previous GeneCards Identifiers for SLC23A3 Gene

  • GC02M218662
  • GC02M219905
  • GC02M220143
  • GC02M220228
  • GC02M219766
  • GC02M219851
  • GC02M219649
  • GC02M219940
  • GC02M211879
  • GC02M219076

Summaries for SLC23A3 Gene

GeneCards Summary for SLC23A3 Gene

SLC23A3 (Solute Carrier Family 23 Member 3) is a Protein Coding gene. Diseases associated with SLC23A3 include Epilepsy, Idiopathic Generalized 10. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is SLC23A1.

Additional gene information for SLC23A3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC23A3 Gene

Genomics for SLC23A3 Gene

GeneHancer (GH) Regulatory Elements for SLC23A3 Gene

Promoters and enhancers for SLC23A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I219170 Enhancer 1.1 Ensembl ENCODE dbSUPER 567.5 -1.7 -1674 1.8 HDGF CTCF USF1 RB1 MAX ZNF384 RAD21 POLR2A ZNF143 MAFK SLC23A3 ENSG00000280537 RETREG2 CNPPD1
GH02I219169 Promoter 0.6 EPDnew 550.8 +0.1 71 0.1 HNF4A ENSG00000280537 SLC23A3 NHEJ1
GH02I218566 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22 +600.8 600777 4.7 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 CNOT9 USP37 NHEJ1 AAMP CNPPD1 SLC23A3 PLCD4 BCS1L GMPPA ANKZF1
GH02I219569 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22 -401.4 -401436 4 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 INHA OBSL1 ZNF142 RNF25 NHEJ1 SLC23A3 STK36 STK11IP GLB1L DNPEP
GH02I219175 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.6 -7.4 -7362 4.2 HDGF FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 RETREG2 CNPPD1 SLC23A3 AAMP BCS1L CNOT9 STK36 USP37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC23A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC23A3 gene promoter:

Genomic Locations for SLC23A3 Gene

Genomic Locations for SLC23A3 Gene
chr2:219,161,459-219,170,095
(GRCh38/hg38)
Size:
8,637 bases
Orientation:
Minus strand
chr2:219,940,051-220,035,549
(GRCh37/hg19)

Genomic View for SLC23A3 Gene

Genes around SLC23A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC23A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC23A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC23A3 Gene

Proteins for SLC23A3 Gene

  • Protein details for SLC23A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PIS1-S23A3_HUMAN
    Recommended name:
    Solute carrier family 23 member 3
    Protein Accession:
    Q6PIS1
    Secondary Accessions:
    • B7Z512
    • Q2PYN6
    • Q96NA6

    Protein attributes for SLC23A3 Gene

    Size:
    610 amino acids
    Molecular mass:
    64531 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=ABC17635.1; Type=Miscellaneous discrepancy; Note=Fragment of a potential novel isoform.; Evidence={ECO:0000305}; Sequence=BAB70999.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC23A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC23A3 Gene

Post-translational modifications for SLC23A3 Gene

No Post-translational modifications

Other Protein References for SLC23A3 Gene

No data available for DME Specific Peptides for SLC23A3 Gene

Domains & Families for SLC23A3 Gene

Gene Families for SLC23A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC23A3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6PIS1

UniProtKB/Swiss-Prot:

S23A3_HUMAN :
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
Family:
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
genes like me logo Genes that share domains with SLC23A3: view

Function for SLC23A3 Gene

Phenotypes From GWAS Catalog for SLC23A3 Gene

Gene Ontology (GO) - Molecular Function for SLC23A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC23A3: view
genes like me logo Genes that share phenotypes with SLC23A3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC23A3 Gene

Localization for SLC23A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC23A3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC23A3 gene
Compartment Confidence
plasma membrane 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC23A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC23A3: view

Pathways & Interactions for SLC23A3 Gene

SuperPathways for SLC23A3 Gene

No Data Available

Interacting Proteins for SLC23A3 Gene

Gene Ontology (GO) - Biological Process for SLC23A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC23A3: view

No data available for Pathways by source and SIGNOR curated interactions for SLC23A3 Gene

Drugs & Compounds for SLC23A3 Gene

(1) Drugs for SLC23A3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra 581,581
genes like me logo Genes that share compounds with SLC23A3: view

Transcripts for SLC23A3 Gene

Unigene Clusters for SLC23A3 Gene

Solute carrier family 23 (nucleobase transporters), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A3 Gene

No ASD Table

Relevant External Links for SLC23A3 Gene

GeneLoc Exon Structure for
SLC23A3
ECgene alternative splicing isoforms for
SLC23A3

Expression for SLC23A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC23A3 Gene

mRNA differential expression in normal tissues according to GTEx for SLC23A3 Gene

This gene is overexpressed in Kidney - Cortex (x7.5) and Small Intestine - Terminal Ileum (x6.7).

Protein differential expression in normal tissues from HIPED for SLC23A3 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC23A3 Gene



Protein tissue co-expression partners for SLC23A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC23A3 Gene:

SLC23A3

SOURCE GeneReport for Unigene cluster for SLC23A3 Gene:

Hs.124565

Evidence on tissue expression from TISSUES for SLC23A3 Gene

  • Kidney(4.6)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with SLC23A3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC23A3 Gene

Orthologs for SLC23A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC23A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC23A3 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia SLC23A3 33 34
  • 86.52 (n)
cow
(Bos Taurus)
Mammalia SLC23A3 33 34
  • 85.11 (n)
mouse
(Mus musculus)
Mammalia Slc23a3 33 16 34
  • 82.37 (n)
rat
(Rattus norvegicus)
Mammalia Slc23a3 33
  • 81.71 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC23A3 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 26 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC23A3 33 34
  • 58.89 (n)
lizard
(Anolis carolinensis)
Reptilia SLC23A3 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc23a3 33
  • 54.45 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333020 33
  • 50.14 (n)
slc23a3 34
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C51E3.6 34
  • 25 (a)
OneToMany
R11E3.2 34
  • 22 (a)
OneToMany
T07G12.2 34
  • 22 (a)
OneToMany
T07G12.5 34
  • 21 (a)
OneToMany
Y59E9AL.4 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
ManyToMany
Species where no ortholog for SLC23A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC23A3 Gene

ENSEMBL:
Gene Tree for SLC23A3 (if available)
TreeFam:
Gene Tree for SLC23A3 (if available)

Paralogs for SLC23A3 Gene

Paralogs for SLC23A3 Gene

(3) SIMAP similar genes for SLC23A3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SLC23A3: view

Variants for SLC23A3 Gene

Sequence variations from dbSNP and Humsavar for SLC23A3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000036236 -- 219,161,146(-) C/T downstream_transcript_variant
rs1000053654 -- 219,162,936(-) A/T intron_variant
rs1000653064 -- 219,164,177(-) C/T intron_variant
rs1001454482 -- 219,169,581(-) A/G coding_sequence_variant, missense_variant
rs1001567573 -- 219,170,039(-) G/A 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC23A3 Gene

Variant ID Type Subtype PubMed ID
nsv508200 CNV deletion 20534489

Variation tolerance for SLC23A3 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 53.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC23A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC23A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC23A3 Gene

Disorders for SLC23A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC23A3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC23A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC23A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC23A3 Gene

Publications for SLC23A3 Gene

  1. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
  2. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M … Qi L (Human molecular genetics 2015) 3 58

Products for SLC23A3 Gene

Sources for SLC23A3 Gene

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