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Aliases for SLC34A3 Gene

Aliases for SLC34A3 Gene

  • Solute Carrier Family 34 Member 3 2 3 4
  • Solute Carrier Family 34 (Type II Sodium/Phosphate Cotransporter), Member 3 2 3 5
  • Solute Carrier Family 34 (Sodium Phosphate), Member 3 2 3
  • Sodium/Inorganic Phosphate Cotransporter IIC 3 4
  • Na(+)-Dependent Phosphate Cotransporter 2C 3 4
  • Sodium-Phosphate Transport Protein 2C 3 4
  • Na(+)/Pi Cotransporter 2C 3 4
  • NaPi-2c 3 4
  • NPTIIc 3 4
  • Sodium/Phosphate Cotransporter 2C 4
  • Type IIc Na+/Pi Cotransporter 3
  • NPT2C 4
  • HHRH 3

External Ids for SLC34A3 Gene

Previous GeneCards Identifiers for SLC34A3 Gene

  • GC09U900363
  • GC09P137401
  • GC09P139245
  • GC09P140125
  • GC09P109584

Summaries for SLC34A3 Gene

Entrez Gene Summary for SLC34A3 Gene

  • This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

GeneCards Summary for SLC34A3 Gene

SLC34A3 (Solute Carrier Family 34 Member 3) is a Protein Coding gene. Diseases associated with SLC34A3 include Hypophosphatemic Rickets With Hypercalciuria and Hereditary Hypophosphatemic Rickets. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sodium:phosphate symporter activity and sodium-dependent phosphate transmembrane transporter activity. An important paralog of this gene is SLC34A1.

UniProtKB/Swiss-Prot for SLC34A3 Gene

  • May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.

Gene Wiki entry for SLC34A3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC34A3 Gene

Genomics for SLC34A3 Gene

Regulatory Elements for SLC34A3 Gene

Enhancers for SLC34A3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC34A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC34A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC34A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC34A3 Gene

Chromosome:
9
Start:
137,230,116 bp from pter
End:
137,236,554 bp from pter
Size:
6,439 bases
Orientation:
Plus strand

Genomic View for SLC34A3 Gene

Genes around SLC34A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC34A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC34A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC34A3 Gene

Proteins for SLC34A3 Gene

  • Protein details for SLC34A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N130-NPT2C_HUMAN
    Recommended name:
    Sodium-dependent phosphate transport protein 2C
    Protein Accession:
    Q8N130
    Secondary Accessions:
    • A2BFA1

    Protein attributes for SLC34A3 Gene

    Size:
    599 amino acids
    Molecular mass:
    63550 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • A 2:1 stoichiometry to Na(+)/Pi is observed at pH 7.4.

neXtProt entry for SLC34A3 Gene

Proteomics data for SLC34A3 Gene at MOPED

Post-translational modifications for SLC34A3 Gene

  • Glycosylation at Asn 265, Asn 268, Asn 286, and Asn 299
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC34A3 Gene

No data available for DME Specific Peptides for SLC34A3 Gene

Domains & Families for SLC34A3 Gene

Gene Families for SLC34A3 Gene

Protein Domains for SLC34A3 Gene

Suggested Antigen Peptide Sequences for SLC34A3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N130

UniProtKB/Swiss-Prot:

NPT2C_HUMAN :
  • Belongs to the SLC34A transporter family.
Family:
  • Belongs to the SLC34A transporter family.
genes like me logo Genes that share domains with SLC34A3: view

Function for SLC34A3 Gene

Molecular function for SLC34A3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=79 uM for phosphate {ECO:0000269 PubMed:11880379};
UniProtKB/Swiss-Prot Function:
May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.
genes like me logo Genes that share phenotypes with SLC34A3: view

Human Phenotype Ontology for SLC34A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC34A3 Gene

MGI Knock Outs for SLC34A3:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SLC34A3 Gene

Localization for SLC34A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC34A3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC34A3 Gene COMPARTMENTS Subcellular localization image for SLC34A3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC34A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane IEA,ISS 11880379
genes like me logo Genes that share ontologies with SLC34A3: view

Pathways & Interactions for SLC34A3 Gene

genes like me logo Genes that share pathways with SLC34A3: view

Interacting Proteins for SLC34A3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000355353%0d%0a9606.ENSP00000217381%0d%0a
Selected Interacting proteins: ENSP00000355353 Q8N130-NPT2C_HUMAN for SLC34A3 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SLC34A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006817 phosphate ion transport IEA,IDA 11880379
GO:0035435 phosphate ion transmembrane transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC34A3: view

No data available for SIGNOR curated interactions for SLC34A3 Gene

Drugs & Compounds for SLC34A3 Gene

(1) Drugs for SLC34A3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with SLC34A3: view

Transcripts for SLC34A3 Gene

mRNA/cDNA for SLC34A3 Gene

(10) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC34A3 Gene

Solute carrier family 34 (sodium phosphate), member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC34A3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: -
SP2: - -
SP3: - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for SLC34A3 Gene

GeneLoc Exon Structure for
SLC34A3
ECgene alternative splicing isoforms for
SLC34A3

Expression for SLC34A3 Gene

mRNA expression in normal human tissues for SLC34A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC34A3 Gene

This gene is overexpressed in Kidney - Cortex (x22.5), Esophagus - Mucosa (x5.6), and Pituitary (x4.1).

Protein differential expression in normal tissues from HIPED for SLC34A3 Gene

This gene is overexpressed in Urine (24.1), Liver (18.0), and Kidney (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC34A3 Gene



SOURCE GeneReport for Unigene cluster for SLC34A3 Gene Hs.432442

genes like me logo Genes that share expression patterns with SLC34A3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SLC34A3 Gene

Orthologs for SLC34A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC34A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC34A3 35
  • 80.48 (n)
  • 73.57 (a)
SLC34A3 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC34A3 35
  • 84.75 (n)
  • 80.92 (a)
SLC34A3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc34a3 35
  • 80.1 (n)
  • 80.27 (a)
Slc34a3 16
Slc34a3 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc34a3 35
  • 79.43 (n)
  • 79.26 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC34A3 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC34A3 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495764 35
  • 60.88 (n)
  • 59.79 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK563.2 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
Species with no ortholog for SLC34A3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for SLC34A3 Gene

ENSEMBL:
Gene Tree for SLC34A3 (if available)
TreeFam:
Gene Tree for SLC34A3 (if available)

Paralogs for SLC34A3 Gene

Paralogs for SLC34A3 Gene

(3) SIMAP similar genes for SLC34A3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC34A3: view

Variants for SLC34A3 Gene

Sequence variations from dbSNP and Humsavar for SLC34A3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs34372115 - 137,232,599(+) GCTGC(A/G/T)CCGCG reference, missense
rs141734934 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) 137,232,892(+) CACGT(C/T)CTCCT reference, missense
rs35643193 - 137,233,094(+) GTCAG(C/G)GGACC reference, missense
VAR_025709 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
VAR_025710 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Structural Variations from Database of Genomic Variants (DGV) for SLC34A3 Gene

Variant ID Type Subtype PubMed ID
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv524322 CNV Loss 19592680
dgv8423n71 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
dgv8437n71 CNV Gain 21882294
dgv8441n71 CNV Loss 21882294
dgv8442n71 CNV Loss 21882294
dgv8445n71 CNV Loss 21882294
dgv8446n71 CNV Loss 21882294
dgv8447n71 CNV Loss 21882294
dgv8450n71 CNV Loss 21882294
nsv894603 CNV Gain+Loss 21882294
dgv8451n71 CNV Loss 21882294
dgv8452n71 CNV Gain+Loss 21882294
dgv8453n71 CNV Gain 21882294
dgv8454n71 CNV Gain 21882294
dgv8455n71 CNV Gain+Loss 21882294
dgv8456n71 CNV Loss 21882294
nsv894631 CNV Loss 21882294
dgv8457n71 CNV Gain 21882294
nsv894637 CNV Loss 21882294
nsv894639 CNV Loss 21882294
nsv894640 CNV Loss 21882294
nsv894641 CNV Loss 21882294

Variation tolerance for SLC34A3 Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC34A3 Gene

Human Gene Mutation Database (HGMD)
SLC34A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC34A3 Gene

Disorders for SLC34A3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC34A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypophosphatemic rickets with hypercalciuria
  • hereditary hypophosphatemic rickets with hypercalciuria
hereditary hypophosphatemic rickets
  • hypophosphatemic rickets, x-linked dominant
hypophosphatemic rickets
  • hypophosphatemic rickets disorders
rickets
  • active rickets
hypophosphatemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NPT2C_HUMAN
  • Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]: Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. {ECO:0000269 PubMed:16358214, ECO:0000269 PubMed:16358215}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC34A3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC34A3
genes like me logo Genes that share disorders with SLC34A3: view

No data available for Genatlas for SLC34A3 Gene

Publications for SLC34A3 Gene

  1. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (PMID: 16358215) Lorenz-Depiereux B. … Strom T.M. (Am. J. Hum. Genet. 2006) 2 3 4 23 67
  2. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. (PMID: 19820004) Tencza A.L. … Levine M.A. (J. Clin. Endocrinol. Metab. 2009) 3 23
  3. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium- phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. (PMID: 16358214) Bergwitz C. … Jueppner H. (Am. J. Hum. Genet. 2006) 2 3
  4. Growth-related renal type II Na/Pi cotransporter. (PMID: 11880379) Segawa H. … Miyamoto K. (J. Biol. Chem. 2002) 2 3
  5. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. (PMID: 24700880) Dasgupta D. … Bergwitz C. (J. Am. Soc. Nephrol. 2014) 3

Products for SLC34A3 Gene

Sources for SLC34A3 Gene

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