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Aliases for SLC34A1 Gene

Aliases for SLC34A1 Gene

  • Solute Carrier Family 34 Member 1 2 3 4
  • Solute Carrier Family 34 (Type II Sodium/Phosphate Cotransporter), Member 1 2 3 5
  • Solute Carrier Family 34 (Sodium Phosphate), Member 1 2 3
  • Na(+)-Dependent Phosphate Cotransporter 2A 3 4
  • Sodium-Phosphate Transport Protein 2A 3 4
  • Na+-Phosphate Cotransporter Type II 2 3
  • Sodium/Phosphate Cotransporter 2A 3 4
  • Sodium/Phosphate Co-Transporter 2 3
  • Na(+)/Pi Cotransporter 2A 3 4
  • NaPi-2a 3 4
  • SLC17A2 3 4
  • NAPI-3 3 4
  • NPT2 3 4
  • Solute Carrier Family 17 (Sodium Phosphate), Member 2 3
  • Renal Sodium-Dependent Phosphate Transporter 3
  • Solute Carrier Family 17 (Sodium Phosphate) 2
  • Member 2 2
  • NPHLOP1 3
  • NPTIIa 3
  • FRTS2 3
  • SLC11 3

External Ids for SLC34A1 Gene

Previous HGNC Symbols for SLC34A1 Gene

  • NPT2
  • SLC17A2

Previous GeneCards Identifiers for SLC34A1 Gene

  • GC05P177184
  • GC05P177653
  • GC05P176747
  • GC05P176792
  • GC05P176744
  • GC05P176812
  • GC05P171732

Summaries for SLC34A1 Gene

Entrez Gene Summary for SLC34A1 Gene

  • This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

GeneCards Summary for SLC34A1 Gene

SLC34A1 (Solute Carrier Family 34 Member 1) is a Protein Coding gene. Diseases associated with SLC34A1 include nephrolithiasis/osteoporosis, hypophosphatemic, 1 and fanconi renotubular syndrome 2. Among its related pathways are Transport to the Golgi and subsequent modification and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein homodimerization activity and PDZ domain binding. An important paralog of this gene is SLC34A2.

UniProtKB/Swiss-Prot for SLC34A1 Gene

  • May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC34A1 Gene

Genomics for SLC34A1 Gene

Regulatory Elements for SLC34A1 Gene

Enhancers for SLC34A1 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 SLC34A1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC34A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC34A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC34A1 Gene

Chromosome:
5
Start:
177,379,235 bp from pter
End:
177,398,848 bp from pter
Size:
19,614 bases
Orientation:
Plus strand

Genomic View for SLC34A1 Gene

Genes around SLC34A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC34A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC34A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC34A1 Gene

Proteins for SLC34A1 Gene

  • Protein details for SLC34A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06495-NPT2A_HUMAN
    Recommended name:
    Sodium-dependent phosphate transport protein 2A
    Protein Accession:
    Q06495
    Secondary Accessions:
    • B4DPE3

    Protein attributes for SLC34A1 Gene

    Size:
    639 amino acids
    Molecular mass:
    68937 Da
    Quaternary structure:
    • Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1.

    Alternative splice isoforms for SLC34A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC34A1 Gene

Proteomics data for SLC34A1 Gene at MOPED

Post-translational modifications for SLC34A1 Gene

  • Glycosylation at Asn 298, Asn 323, and Asn 330
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC34A1 Gene

No data available for DME Specific Peptides for SLC34A1 Gene

Domains & Families for SLC34A1 Gene

Gene Families for SLC34A1 Gene

Protein Domains for SLC34A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q06495

UniProtKB/Swiss-Prot:

NPT2A_HUMAN :
  • Belongs to the SLC34A transporter family.
Family:
  • Belongs to the SLC34A transporter family.
genes like me logo Genes that share domains with SLC34A1: view

Function for SLC34A1 Gene

Molecular function for SLC34A1 Gene

GENATLAS Biochemistry:
solute carrier family 34 (sodium/phosphate cotransport) member 1,expressed in kidney
UniProtKB/Swiss-Prot Function:
May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.
genes like me logo Genes that share phenotypes with SLC34A1: view

Human Phenotype Ontology for SLC34A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC34A1 Gene

MGI Knock Outs for SLC34A1:

Animal Model Products

CRISPR Products

miRNA for SLC34A1 Gene

miRTarBase miRNAs that target SLC34A1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SLC34A1 Gene

Localization for SLC34A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC34A1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC34A1 Gene COMPARTMENTS Subcellular localization image for SLC34A1 gene
Compartment Confidence
plasma membrane 5
endosome 3
extracellular 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC34A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005903 brush border IBA --
GO:0031226 intrinsic component of plasma membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with SLC34A1: view

Pathways & Interactions for SLC34A1 Gene

genes like me logo Genes that share pathways with SLC34A1: view

Gene Ontology (GO) - Biological Process for SLC34A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0006811 ion transport TAS --
GO:0006817 phosphate ion transport IEA,IDA 8327470
GO:0009100 glycoprotein metabolic process IEA --
GO:0010288 response to lead ion IDA 8898024
genes like me logo Genes that share ontologies with SLC34A1: view

No data available for SIGNOR curated interactions for SLC34A1 Gene

Drugs & Compounds for SLC34A1 Gene

(4) Drugs for SLC34A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for SLC34A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC34A1: view

Transcripts for SLC34A1 Gene

Unigene Clusters for SLC34A1 Gene

Solute carrier family 34 (sodium phosphate), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC34A1 Gene

No ASD Table

Relevant External Links for SLC34A1 Gene

GeneLoc Exon Structure for
SLC34A1
ECgene alternative splicing isoforms for
SLC34A1

Expression for SLC34A1 Gene

mRNA expression in normal human tissues for SLC34A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC34A1 Gene

This gene is overexpressed in Kidney - Cortex (x51.1).

Protein differential expression in normal tissues from HIPED for SLC34A1 Gene

This gene is overexpressed in Brain (38.2) and Urine (30.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC34A1 Gene



SOURCE GeneReport for Unigene cluster for SLC34A1 Gene Hs.936

mRNA Expression by UniProt/SwissProt for SLC34A1 Gene

Q06495-NPT2A_HUMAN
Tissue specificity: Kidney and lung.
genes like me logo Genes that share expression patterns with SLC34A1: view

Protein tissue co-expression partners for SLC34A1 Gene

Primer Products

In Situ Assay Products

Orthologs for SLC34A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC34A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC34A1 35
  • 88.21 (n)
  • 89.51 (a)
SLC34A1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC34A1 35
  • 88.63 (n)
  • 91.39 (a)
SLC34A1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc34a1 35
  • 86.24 (n)
  • 91.21 (a)
Slc34a1 16
Slc34a1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC34A1 35
  • 99.37 (n)
  • 99.22 (a)
SLC34A1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc34a1 35
  • 86.92 (n)
  • 91.21 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC34A1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC34A1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC34A1 35
  • 77.08 (n)
  • 77.88 (a)
SLC34A1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC34A1 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc34a1a 35
  • 71.99 (n)
  • 74.36 (a)
slc34a2b 35
slc34a1a 36
  • 58 (a)
OneToMany
slc34a1b 36
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK563.2 37
  • 38 (a)
ZK563.2 35
  • 43.11 (n)
  • 34.17 (a)
ZK563.2 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
Species with no ortholog for SLC34A1:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC34A1 Gene

ENSEMBL:
Gene Tree for SLC34A1 (if available)
TreeFam:
Gene Tree for SLC34A1 (if available)

Paralogs for SLC34A1 Gene

Paralogs for SLC34A1 Gene

(3) SIMAP similar genes for SLC34A1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC34A1: view

Variants for SLC34A1 Gene

Sequence variations from dbSNP and Humsavar for SLC34A1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_024765 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)
VAR_024766 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)
rs6862195 -- 177,395,511(+) GTGAG(G/T)TGGCA intron-variant
rs3812035 -- 177,390,142(-) GTTGG(A/C)GTCAA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs3812036 -- 177,386,403(-) CCAGC(A/G)TTGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC34A1 Gene

Variant ID Type Subtype PubMed ID
dgv6379n71 CNV Loss 21882294
nsv509103 CNV Insertion 20534489
nsv471057 CNV Loss 18288195
nsv883163 CNV Loss 21882294
nsv883164 CNV Loss 21882294
dgv733n27 CNV Loss 19166990
dgv6381n71 CNV Loss 21882294
nsv883167 CNV Loss 21882294
esv2731189 CNV Deletion 23290073
esv2731190 CNV Deletion 23290073
esv4214 CNV Deletion 18987735
esv2675618 CNV Deletion 23128226
esv1007597 CNV Deletion 20482838
dgv6382n71 CNV Loss 21882294

Variation tolerance for SLC34A1 Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC34A1 Gene

HapMap Linkage Disequilibrium report
SLC34A1
Human Gene Mutation Database (HGMD)
SLC34A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC34A1 Gene

Disorders for SLC34A1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for SLC34A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nephrolithiasis/osteoporosis, hypophosphatemic, 1
  • hypophosphatemic nephrolithiasis/osteoporosis 1
fanconi renotubular syndrome 2
  • frts2
primary fanconi syndrome
  • primary fanconi renotubular syndrome
dominant hypophosphatemia with nephrolithiasis or osteoporosis
nephrolithiasis
  • calculus of kidney and ureter
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NPT2A_HUMAN
  • Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269 PubMed:20335586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269 PubMed:12324554}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC34A1

Genetic Association Database (GAD)
SLC34A1
Human Genome Epidemiology (HuGE) Navigator
SLC34A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC34A1
genes like me logo Genes that share disorders with SLC34A1: view

No data available for Genatlas for SLC34A1 Gene

Publications for SLC34A1 Gene

  1. Expression cloning of human and rat renal cortex Na/Pi cotransport. (PMID: 8327470) Magagnin S. … Murer H. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 23 67
  2. Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2). (PMID: 8693007) Hartmann C.M. … Tenenhouse H.S. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 23
  3. Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. (PMID: 12674325) Chau H. … Tenenhouse H.S. (J. Bone Miner. Res. 2003) 3 23
  4. Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. (PMID: 14672348) Virkki L.V. … Murer H. (J. Bone Miner. Res. 2003) 3 23
  5. Phosphate transport by the human renal cotransporter NaPi-3 expressed in HEK-293 cells. (PMID: 9530108) Timmer R.T. … Gunn R.B. (Am. J. Physiol. 1998) 3 23

Products for SLC34A1 Gene

Sources for SLC34A1 Gene

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