Aliases for SLC23A3 Gene

Aliases for SLC23A3 Gene

  • Solute Carrier Family 23 Member 3 2 3 4 5
  • SVCT3 2 3 4
  • 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
  • Yspl1 2 3
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 3 3
  • Solute Carrier Family 23, Member 3 2
  • E2-Binding Protein 3 3
  • FLJ31168 2
  • SLC23A3 5

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 Hypoascorbemia and Gestational Choriocarcinoma. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is SLC23A1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC23A3 Gene

Genomics for SLC23A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J219170 Enhancer 1 Ensembl ENCODE dbSUPER 267.4 -1.7 -1674 1.8 ZNF654 IKZF1 REST CTCF TRIM22 RAD21 SMC3 USF2 POLR2A RB1 SLC23A3 ENSG00000280537 HSALNG0022340 lnc-CNPPD1-1 RETREG2 CNPPD1
GH02J219168 Promoter/Enhancer 0.8 EPDnew Ensembl 267.7 +0.8 794 2.2 NFIC HNF4A GLIS1 REST SLC23A3 ENSG00000280537 HSALNG0022340 lnc-CNPPD1-1 HSALNG0022339 NHEJ1
GH02J219161 Promoter 0.3 EPDnew 250.4 +8.1 8066 0.1 NHEJ1 lnc-SLC23A3-3 SLC23A3 HSALNG0022339 ENSG00000280537
GH02J219569 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 21.9 -401.4 -401436 4 ZNF600 MYC NCOR1 IKZF1 SSRP1 ZNF592 ZMYM3 ATF2 CEBPA ZNF223 INHA OBSL1 HSALNG0022397 lnc-OBSL1-2 ZNF142 RNF25 NHEJ1 SLC23A3 STK36 STK11IP
GH02J218393 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17 +769.1 769088 14.4 BCLAF1 SP1 ZNF207 ZNF654 NCOR1 MYC IKZF1 ZNF600 SSRP1 JUND CTDSP1 ENSG00000273361 HSALNG0022261 MIR26B CNOT9 AAMP ANKZF1 STK36 USP37 ZNF142
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC23A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC23A3

Top Transcription factor binding sites by QIAGEN in the SLC23A3 gene promoter:
  • AhR
  • AREB6
  • E47
  • Egr-4
  • FOXL1
  • FOXO1
  • FOXO1a
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for SLC23A3 Gene

Latest Assembly
chr2:219,161,465-219,170,095
(GRCh38/hg38)
Size:
8,631 bases
Orientation:
Minus strand

Previous Assembly
chr2:220,026,187-220,034,751
(GRCh37/hg19 by Entrez Gene)
Size:
8,565 bases
Orientation:
Minus strand

chr2:219,940,051-220,035,549
(GRCh37/hg19 by Ensembl)
Size:
95,499 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC23A3 Gene

Domains & Families for SLC23A3 Gene

Gene Families for SLC23A3 Gene

Protein Domains for SLC23A3 Gene

Suggested Antigen Peptide Sequences for SLC23A3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53151, moderately similar to Mus musculus solute carrier family 23 (nucleobase transporters), member 3, mRNA (B7Z512_HUMAN)
  • E2-binding protein 3 (Q2PYN5_HUMAN)
  • cDNA FLJ43131 fis, clone CTONG3005803, moderately similar to Mus musculus yolk sac permease-like molecule 1 (YSPL-1) (Q6ZV11_HUMAN)
  • Sodium-dependent vitamin C transporter 3 (S23A3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PIS1

UniProtKB/Swiss-Prot:

S23A3_HUMAN :
  • Belongs to the nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) family.
Family:
  • Belongs to the nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) family.
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:0005215 transporter activity IBA 21873635
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 Models for research

  • Taconic Biosciences Mouse Models for SLC23A3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC23A3

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
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (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

PathCards logo

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: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 836,836
genes like me logo Genes that share compounds with SLC23A3: view

Transcripts for SLC23A3 Gene

mRNA/cDNA for SLC23A3 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC23A3

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

No ASD Table

Relevant External Links for SLC23A3 Gene

GeneLoc Exon Structure for
SLC23A3

Expression for SLC23A3 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for SLC23A3 Gene



Protein tissue co-expression partners for SLC23A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

No data available for 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 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC23A3 29 30
  • 86.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC23A3 29 30
  • 85.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc23a3 29 16 30
  • 82.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc23a3 29
  • 81.71 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC23A3 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 26 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves SLC23A3 29 30
  • 58.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC23A3 30
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc23a3 29
  • 54.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100333020 29
  • 50.14 (n)
slc23a3 30
  • 39 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C51E3.6 30
  • 25 (a)
OneToMany
R11E3.2 30
  • 22 (a)
OneToMany
T07G12.2 30
  • 22 (a)
OneToMany
Y59E9AL.4 30
  • 21 (a)
OneToMany
T07G12.5 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 27 (a)
ManyToMany
Species where no ortholog for SLC23A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC23A3: view image
Alliance of Genome Resources:
Additional Orthologs for SLC23A3

Paralogs for SLC23A3 Gene

Paralogs for SLC23A3 Gene

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

  • S23A3_HUMAN
  • C9JQ03_HUMAN
  • E2QRJ3_HUMAN
  • F8W735_HUMAN
  • F8WET7_HUMAN
  • H7C2A2_HUMAN
  • Q6ZV11_HUMAN
genes like me logo Genes that share paralogs with SLC23A3: view

Variants for SLC23A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC23A3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs79578215 Benign: not provided 219,169,529(-) C/G
NM_001144889.2(SLC23A3):c.312G>C (p.Met104Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC23A3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
SLC23A3

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC23A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC23A3 Gene - From: COP

Disorder Aliases PubMed IDs
hypoascorbemia
  • scurvy
gestational choriocarcinoma
  • gestational chorionepithelioma
epilepsy, myoclonic juvenile
  • ejm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC23A3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  2. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 40
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. [Expression of SLC30A10 and SLC23A3 Transporter mRNAs in Caco-2 Cells Correlates with an Increase in the Area of the Apical Membrane]. (PMID: 30113032) Nikulin SV … Gerasimenko TN (Molekuliarnaia biologiia 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for SLC23A3 Gene

Sources for SLC23A3 Gene