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Slc34a1 Gene Detail
Summary
  • Symbol
    Slc34a1
  • Name
    solute carrier family 34 (sodium phosphate), member 1
  • Synonyms
    Na/Pi cotransporter, NaPi-IIa, Npt2, renal Na+/Pi transporter, Slc17a2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1345284
    NCBI Gene: 20505
  • Gene Overview
    MyGene.info: SLC34A1
Location & Maps
more
  • Sequence Map
    Chr13:55399648-55414695 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15048 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 29.81 cM, cytoband B
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLC34A1, solute carrier family 34 member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SLC34A1, solute carrier family 34 member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2
  • Links
    NCBI Gene ID: 6569
    neXtProt AC: NX_Q06495

  • Chr Location
    5q35.3; chr5:177384431-177398848 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Slc34a1 mouse models; 3 with human SLC34A1 associations

Human Disease Mouse Models
       Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH   OMIM: 241530 View 2 models
       Fanconi Renotubular Syndrome 2; FRTS2   OMIM: 613388
Hypercalcemia, Infantile, 2; HCINF2   OMIM: 616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1; NPHLOP1   OMIM: 612286
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 1 allele in 2 genetic backgrounds
    16 phenotypes from multigenic genotypes
    1 images
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Slc34a1
  • Incidental Mutations
Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021490 Ensembl Gene Model | MGI Sequence Detail 15048 C57BL/6J ±  kb
transcript ENSMUST00000057167 Ensembl | MGI Sequence Detail 3081 Not Applicable  
polypeptide ENSMUSP00000059138 Ensembl | MGI Sequence Detail 637 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    172 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015086 sodium-dependent phosphate transport protein 2A
  • InterPro Domains
    IPR003841 Sodium-dependent phosphate transport protein
    IPR029848 Sodium-dependent phosphate transport protein 2A
Molecular
Reagents
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  • All nucleic 28
    Genomic 10
    cDNA 14
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-16672, MGD-MRK-24044, MGI:103176
References
more
  • Summaries
    All 78
    Developmental Gene Expression 17
    Diseases 3
    Gene Ontology 10
    Phenotypes 28
  • Earliest
    J:19917 Collins JF, et al., Molecular cloning, functional expression, tissue distribution, and in situ hybridization of the renal sodium phosphate (Na+/P(i)) transporter in the control and hypophosphatemic mouse. FASEB J. 1994 Aug;8(11):862-8
  • Latest
    J:235105 Albano G, et al., Sodium-dependent phosphate transporters in osteoclast differentiation and function. PLoS One. 2015;10(4):e0125104

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory