Aliases for SLC13A4 Gene

Aliases for SLC13A4 Gene

  • Solute Carrier Family 13 Member 4 2 3 4 5
  • Solute Carrier Family 13 (Sodium/Sulphate Symporters), Member 4 2 3
  • Solute Carrier Family 13 (Sodium/Sulfate Symporter), Member 4 2 3
  • Na(+)/Sulfate Cotransporter SUT-1 3 4
  • Sulphate Transporter 1 2 3
  • SUT1 3 4
  • Solute Carrier Family 13 (Sodium/Sulfate Symporters), Member 4 3
  • SUT-1 3
  • NAS2 3
  • NaS2 4

External Ids for SLC13A4 Gene

Previous GeneCards Identifiers for SLC13A4 Gene

  • GC07M133708
  • GC07M134768
  • GC07M134782
  • GC07M134823
  • GC07M135016
  • GC07M135365
  • GC07M129668

Summaries for SLC13A4 Gene

GeneCards Summary for SLC13A4 Gene

SLC13A4 (Solute Carrier Family 13 Member 4) is a Protein Coding gene. Diseases associated with SLC13A4 include Dental Anomalies And Short Stature and 3-Methylglutaconic Aciduria, Type I. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and sodium:sulfate symporter activity. An important paralog of this gene is SLC13A1.

UniProtKB/Swiss-Prot Summary for SLC13A4 Gene

  • Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV).

Additional gene information for SLC13A4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC13A4 Gene

Genomics for SLC13A4 Gene

GeneHancer (GH) Regulatory Elements for SLC13A4 Gene

Promoters and enhancers for SLC13A4 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
GH07J135728 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.8 758 1 ZSCAN5C ZIC2 RBM25 MBD2 ZNF316 SP2 ZBTB17 NR3C1 ZNF213 ZNF335 SLC13A4 lnc-SLC13A4-1 STMP1 FAM180A HSALNG0061581
GH07J135557 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.2 +171.0 170957 2.6 RXRA HNRNPK ZNF217 EP300 CTCF TCF12 SIN3A NRF1 MYC USF1 NUP205 STMP1 RPL15P11 CALD1 SLC13A4 RF00017-6657
GH07J135706 Enhancer 1 Ensembl ENCODE 13.8 +21.9 21928 2.4 ZNF217 CTCF ZSCAN5C ZNF639 TRIM28 CUX1 KLF7 CTBP1 OSR2 ESRRA HSALNG0061581 RPL15P11 SLC13A4 ENSG00000273219 STMP1 LOC105375521 lnc-SLC13A4-1
GH07J135771 Enhancer 1.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.5 -44.0 -44043 3.4 JUND FOS ZFX ZIC2 TRIM28 CTBP1 MYC OSR2 FOXA2 MBD2 ENSG00000224746 FAM180A STMP1 SLC13A4 LOC105375522
GH07J135712 Enhancer 1 ENCODE CraniofacialAtlas 5.7 +15.2 15157 4.2 ZNF217 ZSCAN5C ZNF10 ZIC2 REST ZNF423 UBTF TRIM28 GATAD2B CTBP1 STMP1 RPL15P11 CYREN FAM180A SLC13A4 ENSG00000224746 HSALNG0061581 lnc-SLC13A4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC13A4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC13A4

Top Transcription factor binding sites by QIAGEN in the SLC13A4 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • GR
  • GR-alpha
  • NF-Y
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for SLC13A4 Gene

Genomic Locations for SLC13A4 Gene
chr7:135,681,231-135,729,258
(GRCh38/hg38)
Size:
48,028 bases
Orientation:
Minus strand
chr7:135,365,985-135,414,006
(GRCh37/hg19)
Size:
48,022 bases
Orientation:
Minus strand

Genomic View for SLC13A4 Gene

Genes around SLC13A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC13A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC13A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC13A4 Gene

Proteins for SLC13A4 Gene

  • Protein details for SLC13A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKG4-S13A4_HUMAN
    Recommended name:
    Solute carrier family 13 member 4
    Protein Accession:
    Q9UKG4
    Secondary Accessions:
    • A4D1Q4
    • Q8N631

    Protein attributes for SLC13A4 Gene

    Size:
    626 amino acids
    Molecular mass:
    69358 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Transport is inhibited by thiosulfate, phosphate, molybdate, selenate and tungstate. Not inhibited by oxalate, citrate, succinate, phenol red or 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS).

neXtProt entry for SLC13A4 Gene

Post-translational modifications for SLC13A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC13A4 Gene

No data available for DME Specific Peptides for SLC13A4 Gene

Domains & Families for SLC13A4 Gene

Gene Families for SLC13A4 Gene

Protein Domains for SLC13A4 Gene

Blocks:
  • Sodium/sulphate symporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC13A4 Gene

GenScript: Design optimal peptide antigens:
  • NaS2 (S13A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKG4

UniProtKB/Swiss-Prot:

S13A4_HUMAN :
  • Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
Family:
  • Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
genes like me logo Genes that share domains with SLC13A4: view

Function for SLC13A4 Gene

Molecular function for SLC13A4 Gene

UniProtKB/Swiss-Prot Function:
Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV).

Phenotypes From GWAS Catalog for SLC13A4 Gene

Gene Ontology (GO) - Molecular Function for SLC13A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015137 citrate transmembrane transporter activity IBA 21873635
GO:0015141 succinate transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0015382 sodium:sulfate symporter activity TAS --
GO:0017153 sodium:dicarboxylate symporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC13A4: view
genes like me logo Genes that share phenotypes with SLC13A4: view

Animal Models for SLC13A4 Gene

MGI Knock Outs for SLC13A4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC13A4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC13A4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC13A4 Gene

Localization for SLC13A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC13A4 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 SLC13A4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC13A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10535998
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA,IEA 21873635
genes like me logo Genes that share ontologies with SLC13A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC13A4 Gene

Pathways & Interactions for SLC13A4 Gene

genes like me logo Genes that share pathways with SLC13A4: view

Interacting Proteins for SLC13A4 Gene

;

Gene Ontology (GO) - Biological Process for SLC13A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006835 dicarboxylic acid transport IEA --
GO:0008272 sulfate transport TAS 10535998
GO:0015746 citrate transport IBA 21873635
genes like me logo Genes that share ontologies with SLC13A4: view

No data available for SIGNOR curated interactions for SLC13A4 Gene

Drugs & Compounds for SLC13A4 Gene

(2) Drugs for SLC13A4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenol Approved, Experimental Pharma 66
Sulfate Experimental, Investigational Pharma 0

(1) Additional Compounds for SLC13A4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC13A4: view

Transcripts for SLC13A4 Gene

mRNA/cDNA for SLC13A4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC13A4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC13A4 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3: - - -
SP4: - -

Relevant External Links for SLC13A4 Gene

GeneLoc Exon Structure for
SLC13A4

Expression for SLC13A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC13A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC13A4 Gene

This gene is overexpressed in Brain - Cerebellum (x7.5), Testis (x5.3), and Esophagus - Mucosa (x4.2).

Protein differential expression in normal tissues from HIPED for SLC13A4 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC13A4 Gene



Protein tissue co-expression partners for SLC13A4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC13A4

SOURCE GeneReport for Unigene cluster for SLC13A4 Gene:

Hs.490241

mRNA Expression by UniProt/SwissProt for SLC13A4 Gene:

Q9UKG4-S13A4_HUMAN
Tissue specificity: Highly expressed in placenta and testis with intermediate levels in brain and lower levels in heart, thymus and liver.

Evidence on tissue expression from TISSUES for SLC13A4 Gene

  • Nervous system(4.7)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with SLC13A4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC13A4 Gene

Orthologs for SLC13A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC13A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC13A4 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC13A4 31 30
  • 90.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC13A4 31 30
  • 89.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc13a4 30
  • 87.78 (n)
mouse
(Mus musculus)
Mammalia Slc13a4 17 31 30
  • 86.55 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC13A4 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC13A4 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC13A4 31 30
  • 76.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC13A4 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495139 30
  • 72.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53521 30
zebrafish
(Danio rerio)
Actinopterygii slc13a4 31 30
  • 69.37 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33934 31
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nac-1 31
  • 34 (a)
ManyToMany
nac-3 31
  • 34 (a)
ManyToMany
F31F6.6 32
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
Species where no ortholog for SLC13A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 SLC13A4 Gene

ENSEMBL:
Gene Tree for SLC13A4 (if available)
TreeFam:
Gene Tree for SLC13A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC13A4: view image

Paralogs for SLC13A4 Gene

Paralogs for SLC13A4 Gene

(5) SIMAP similar genes for SLC13A4 Gene using alignment to 3 proteins:

  • S13A4_HUMAN
  • V9GYC7_HUMAN
  • V9GZ66_HUMAN
genes like me logo Genes that share paralogs with SLC13A4: view

Variants for SLC13A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC13A4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs36004833 - p.Pro451Ser

Additional dbSNP identifiers (rs#s) for SLC13A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC13A4 Gene

Variant ID Type Subtype PubMed ID
esv3395242 CNV duplication 20981092
nsv473042 CNV novel sequence insertion 20440878
nsv608460 CNV gain 21841781

Variation tolerance for SLC13A4 Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC13A4 Gene

Human Gene Mutation Database (HGMD)
SLC13A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC13A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC13A4 Gene

Disorders for SLC13A4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC13A4 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC13A4

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 SLC13A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC13A4 Gene

Publications for SLC13A4 Gene

  1. Molecular cloning and functional analysis of SUT-1, a sulfate transporter from human high endothelial venules. (PMID: 10535998) Girard JP … Amalric F (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23 54
  2. Functional characterization and genomic organization of the human Na(+)-sulfate cotransporter hNaS2 gene (SLC13A4). (PMID: 15607730) Markovich D … Dawson PA (Biochemical and biophysical research communications 2005) 3 4 23 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for SLC13A4 Gene

Sources for SLC13A4 Gene