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Aliases for SLC34A1 Gene

Aliases for SLC34A1 Gene

  • Solute Carrier Family 34 Member 1 2 3 4 5
  • Solute Carrier Family 34 (Type II Sodium/Phosphate Cotransporter), Member 1 2 3
  • Solute Carrier Family 17 (Sodium Phosphate), Member 2 2 3
  • 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
  • Sodium-Dependent Phosphate Transport Protein 2A 3
  • Renal Sodium-Dependent Phosphate Transporter 3
  • NPHLOP1 3
  • HCINF2 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 Hypercalcemia, Infantile, 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Surfactant metabolism. Gene Ontology (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

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

Additional gene information for SLC34A1 Gene

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

Genomics for SLC34A1 Gene

GeneHancer (GH) Regulatory Elements for SLC34A1 Gene

Promoters and enhancers for SLC34A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I177377 Enhancer 1.3 Ensembl ENCODE 550.8 -0.2 -168 2.2 HDGF FOXA2 MLX ARNT ARID4B DMAP1 IRF4 YY1 SLC30A9 POLR2B SLC34A1 RGS14 FAM193B NSD1 FAF2 ENSG00000247679 MXD3 ZNF346-IT1 UIMC1 LOC202181
GH05I177384 Promoter 0.5 EPDnew 550.4 +5.2 5180 0.1 SLC34A1 PFN3 GC05P176931
GH05I177425 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 +50.1 50137 8.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 GRK6 NSD1 FAF2 UIMC1 DOK3 ENSG00000247679 LOC202181 ZNF346-IT1 PFN3 FAM193B
GH05I177443 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 12 +67.1 67129 6.1 HDGF HNRNPUL1 PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 POLR2B PRR7 PRR7-AS1 UIMC1 FAM193B F12 GRK6 PFN3 NSD1 SLC34A1 DBN1
GH05I177356 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 12.4 -20.7 -20745 3.7 HDGF RB1 BMI1 ZBTB40 KLF5 IRF4 RAD21 YY1 ZNF207 ZNF143 RGS14 PRELID1 MXD3 HNRNPAB SLC34A1 UIMC1 RAB24 FAM193B FAF2 GC05P176931
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC34A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC34A1 gene promoter:

Genomic Locations for SLC34A1 Gene

Genomic Locations for SLC34A1 Gene
19,614 bases
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:
    Recommended name:
    Sodium-dependent phosphate transport protein 2A
    Protein Accession:
    Secondary Accessions:
    • B4DPE3

    Protein attributes for SLC34A1 Gene

    639 amino acids
    Molecular mass:
    68937 Da
    Quaternary structure:
    • Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1 (PubMed:22506049).

    Alternative splice isoforms for SLC34A1 Gene


neXtProt entry for SLC34A1 Gene

Post-translational modifications for SLC34A1 Gene

  • Glycosylation at posLast=298298, posLast=323323, and isoforms=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

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC34A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SLC34A transporter 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:
Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.

Phenotypes From GWAS Catalog for SLC34A1 Gene

Gene Ontology (GO) - Molecular Function for SLC34A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005436 sodium:phosphate symporter activity IBA --
GO:0005515 protein binding IPI 17895247
GO:0015293 symporter activity IEA --
GO:0015321 sodium-dependent phosphate transmembrane transporter activity TAS --
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with SLC34A1: view
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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC34A1 Gene

Localization for SLC34A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC34A1 Gene

Apical cell membrane; Multi-pass membrane protein.

Subcellular locations from

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 SLC34A1 gene
Compartment Confidence
plasma membrane 5
endosome 3
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Mitotic spindle (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC34A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 8327470
GO:0005903 brush border IBA --
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:0001503 ossification IEA --
GO:0001822 kidney development IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
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

(6) Drugs for SLC34A1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Phosphate Approved Pharma Transporter, substrate 0
Sodium phosphate Approved Pharma Transporter, substrate 0

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SLC34A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC34A1 Gene

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

Protein tissue co-expression partners for SLC34A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC34A1 Gene:


SOURCE GeneReport for Unigene cluster for SLC34A1 Gene:


mRNA Expression by UniProt/SwissProt for SLC34A1 Gene:

Tissue specificity: Kidney and lung.

Evidence on tissue expression from TISSUES for SLC34A1 Gene

  • Kidney(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC34A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
  • pelvis
  • rectum
  • ureter
  • urinary bladder
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC34A1: view

Primer 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
(Pan troglodytes)
Mammalia SLC34A1 33 34
  • 99.37 (n)
(Canis familiaris)
Mammalia SLC34A1 33 34
  • 88.63 (n)
(Bos Taurus)
Mammalia SLC34A1 33 34
  • 88.21 (n)
(Rattus norvegicus)
Mammalia Slc34a1 33
  • 86.92 (n)
(Mus musculus)
Mammalia Slc34a1 33 16 34
  • 86.24 (n)
(Monodelphis domestica)
Mammalia SLC34A1 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia SLC34A1 34
  • 79 (a)
(Gallus gallus)
Aves SLC34A1 33 34
  • 77.08 (n)
(Anolis carolinensis)
Reptilia SLC34A1 34
  • 64 (a)
(Danio rerio)
Actinopterygii slc34a1a 33 34
  • 71.99 (n)
slc34a1b 34
  • 69 (a)
slc34a2b 33
(Caenorhabditis elegans)
Secernentea ZK563.2 35 33 34
  • 43.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
-- 34
  • 47 (a)
-- 34
  • 46 (a)
-- 34
  • 41 (a)
Species where no ortholog for SLC34A1 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC34A1 Gene

Gene Tree for SLC34A1 (if available)
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 Variation AA Info Type
rs115119084 likely-benign, Hereditary Angioedema, Reduced factor XII activity, Hypophosphatemic Nephrolithiasis/Osteoporosis 177,403,526(+) G/A genic_downstream_transcript_variant, intron_variant
rs118204454 pathogenic, FACTOR XII (LOCARNO) 177,403,994(+) C/G/T genic_downstream_transcript_variant, intron_variant
rs118204455 pathogenic, FACTOR XII (TENRI) 177,406,019(+) T/C genic_downstream_transcript_variant, intron_variant
rs118204456 pathogenic, Hereditary angioneurotic edema with normal C1 esterase inhibitor activity, Angioedema, Hyperbilirubinemia, Hypertension, Urticaria, Hereditary angioneurotic edema, not provided 177,404,231(+) G/C/T genic_downstream_transcript_variant, intron_variant
rs121918610 pathogenic, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286] 177,386,019(+) GC/TT coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv10184n54 CNV loss 21841781
dgv10185n54 CNV loss 21841781
dgv373e215 CNV deletion 23714750
dgv733n27 CNV loss 19166990
esv1007597 CNV deletion 20482838
esv2675618 CNV deletion 23128226
esv2731189 CNV deletion 23290073
esv2731190 CNV deletion 23290073
esv4214 CNV loss 18987735
nsv1074891 CNV deletion 25765185
nsv1148657 CNV deletion 26484159
nsv1161311 CNV duplication 26073780
nsv1161312 CNV deletion 26073780
nsv1161313 CNV duplication 26073780
nsv471057 CNV loss 18288195
nsv509103 CNV insertion 20534489
nsv600364 CNV loss 21841781

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)

Additional Variant Information for SLC34A1 Gene

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

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

Disorders for SLC34A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nephrolithiasis/osteoporosis, hypophosphatemic, 1
  • nphlop1
hypercalcemia, infantile, 2
  • hcinf2
fanconi renotubular syndrome 2
  • frts2
primary fanconi syndrome
  • primary fanconi renotubular syndrome
idiopathic infantile hypercalcemia
  • autosomal recessive infantile hypercalcemia
- elite association - COSMIC cancer census association via MalaCards


  • 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.
  • Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]: An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269 PubMed:26047794}. 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.

Additional Disease Information for SLC34A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22 58
  2. Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2). (PMID: 8693007) Hartmann CM … Tenenhouse HS (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 22 58
  3. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. (PMID: 26047794) Schlingmann KP … Konrad M (Journal of the American Society of Nephrology : JASN 2016) 3 4 58
  4. A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism. (PMID: 22506049) Courbebaisse M … Prié D (PloS one 2012) 3 4 58
  5. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. (PMID: 20335586) Magen D … Skorecki K (The New England journal of medicine 2010) 3 4 58

Products for SLC34A1 Gene

Sources for SLC34A1 Gene

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