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Aliases for SLC34A2 Gene

Aliases for SLC34A2 Gene

  • Solute Carrier Family 34 Member 2 2 3 4 5
  • Solute Carrier Family 34 (Type II Sodium/Phosphate Cotransporter), Member 2 2 3
  • Solute Carrier Family 34 (Sodium Phosphate), Member 2 2 3
  • Sodium/Phosphate Cotransporter 2B 3 4
  • Type II Sodium-Dependent Phosphate Transporter 3b 3
  • Sodium-Dependent Phosphate Transport Protein 2B 3
  • Na(+)-Dependent Phosphate Cotransporter 2B 4
  • Sodium-Phosphate Transport Protein 2B 4
  • Na(+)/Pi Cotransporter 2B 4
  • NAPI-IIb 3
  • NAPI-3B 3
  • NaPi-2b 4
  • NPTIIb 3
  • NaPi3b 4

External Ids for SLC34A2 Gene

Previous GeneCards Identifiers for SLC34A2 Gene

  • GC04P025772
  • GC04P025345
  • GC04P025408
  • GC04P025333
  • GC04P025266
  • GC04P024995

Summaries for SLC34A2 Gene

Entrez Gene Summary for SLC34A2 Gene

  • The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for SLC34A2 Gene

SLC34A2 (Solute Carrier Family 34 Member 2) is a Protein Coding gene. Diseases associated with SLC34A2 include Pulmonary Alveolar Microlithiasis and Testicular Microlithiasis. 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 domain specific binding and phosphate ion binding. An important paralog of this gene is SLC34A1.

UniProtKB/Swiss-Prot for SLC34A2 Gene

  • May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs alveoli.

Gene Wiki entry for SLC34A2 Gene

Additional gene information for SLC34A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC34A2 Gene

Genomics for SLC34A2 Gene

GeneHancer (GH) Regulatory Elements for SLC34A2 Gene

Promoters and enhancers for SLC34A2 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
GH04I025655 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 +0.5 513 0.3 SUZ12 MAX CEBPB CEBPG ATF4 POLR2A CEBPA POU5F1 CTBP2 EZH2 SLC34A2 RPS29P11
GH04I025656 Promoter 0.7 EPDnew 550.8 +1.1 1149 0.1 POLR2A EZH2 SLC34A2 RPS29P11
GH04I025653 Enhancer 0.5 ENCODE 564.1 -0.5 -520 1.7 ATF4 POLR2A SUZ12 MAX CTBP2 EZH2 SLC34A2 LOC100288962
GH04I025657 Enhancer 0.2 FANTOM5 563.6 +1.9 1915 0.4 SLC34A2 RPS29P11
GH04I025569 Enhancer 0.6 ENCODE 11.4 -86.9 -86907 0.2 CEBPB DPF2 FOXA1 CTBP1 GATA3 CUX1 FOS FOSL2 TCF7L2 LOC101929161 SLC34A2 PIR38125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC34A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC34A2 gene promoter:

Genomic Locations for SLC34A2 Gene

Genomic Locations for SLC34A2 Gene
chr4:25,655,301-25,678,748
(GRCh38/hg38)
Size:
23,448 bases
Orientation:
Plus strand
chr4:25,656,923-25,680,370
(GRCh37/hg19)

Genomic View for SLC34A2 Gene

Genes around SLC34A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC34A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC34A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC34A2 Gene

Proteins for SLC34A2 Gene

  • Protein details for SLC34A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95436-NPT2B_HUMAN
    Recommended name:
    Sodium-dependent phosphate transport protein 2B
    Protein Accession:
    O95436
    Secondary Accessions:
    • A5PL17
    • Q8N2K2
    • Q8WYA9
    • Q9P0V7

    Protein attributes for SLC34A2 Gene

    Size:
    690 amino acids
    Molecular mass:
    75759 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11354.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC34A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC34A2 Gene

Post-translational modifications for SLC34A2 Gene

  • Glycosylation at isoforms=2295, posLast=308308, isoforms=2313, posLast=321321, and posLast=340340

Other Protein References for SLC34A2 Gene

No data available for DME Specific Peptides for SLC34A2 Gene

Domains & Families for SLC34A2 Gene

Gene Families for SLC34A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC34A2 Gene

Suggested Antigen Peptide Sequences for SLC34A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95436

UniProtKB/Swiss-Prot:

NPT2B_HUMAN :
  • Belongs to the SLC34A transporter family.
Family:
  • Belongs to the SLC34A transporter family.
genes like me logo Genes that share domains with SLC34A2: view

Function for SLC34A2 Gene

Molecular function for SLC34A2 Gene

GENATLAS Biochemistry:
solute carrier family 34 (sodium/phosphate cotransport) member A2, (brain)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 6.6. {ECO:0000269 PubMed:10329428};
UniProtKB/Swiss-Prot Function:
May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs alveoli.
UniProtKB/Swiss-Prot Induction:
Down-regulated by EGF.

Phenotypes From GWAS Catalog for SLC34A2 Gene

Gene Ontology (GO) - Molecular Function for SLC34A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005436 sodium:phosphate symporter activity IDA 10329428
GO:0015293 symporter activity IEA --
GO:0015321 sodium-dependent phosphate transmembrane transporter activity IEA,TAS --
GO:0031402 sodium ion binding IDA 12488042
GO:0042301 phosphate ion binding IDA 12488042
genes like me logo Genes that share ontologies with SLC34A2: view
genes like me logo Genes that share phenotypes with SLC34A2: view

Human Phenotype Ontology for SLC34A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC34A2 Gene

MGI Knock Outs for SLC34A2:

Animal Model Products

miRNA for SLC34A2 Gene

miRTarBase miRNAs that target SLC34A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC34A2 Gene

Localization for SLC34A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC34A2 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 SLC34A2 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC34A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane NAS 10329428
GO:0005903 brush border IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC34A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC34A2 Gene

Pathways & Interactions for SLC34A2 Gene

genes like me logo Genes that share pathways with SLC34A2: view

Pathways by source for SLC34A2 Gene

Interacting Proteins for SLC34A2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000371483%0d%0a9606.ENSP00000262613%0d%0a9606.ENSP00000408005%0d%0a9606.ENSP00000342143%0d%0a
Selected Interacting proteins: ENSP00000371483 O95436-NPT2B_HUMAN for SLC34A2 Gene via STRING IID

SIGNOR curated interactions for SLC34A2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SLC34A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006817 phosphate ion transport IDA 10329428
genes like me logo Genes that share ontologies with SLC34A2: view

Drugs & Compounds for SLC34A2 Gene

(4) Drugs for SLC34A2 Gene - From: DrugBank, HMDB, 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
calcium Approved Nutra 0

(1) Additional Compounds for SLC34A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with SLC34A2: view

Transcripts for SLC34A2 Gene

Unigene Clusters for SLC34A2 Gene

Solute carrier family 34 (sodium phosphate), member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC34A2 Gene

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

Relevant External Links for SLC34A2 Gene

GeneLoc Exon Structure for
SLC34A2
ECgene alternative splicing isoforms for
SLC34A2

Expression for SLC34A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC34A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC34A2 Gene

This gene is overexpressed in Lung (x31.0) and Minor Salivary Gland (x10.9).

Protein differential expression in normal tissues from HIPED for SLC34A2 Gene

This gene is overexpressed in Lung (33.8) and Milk (19.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC34A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC34A2 Gene:

SLC34A2

SOURCE GeneReport for Unigene cluster for SLC34A2 Gene:

Hs.479372

mRNA Expression by UniProt/SwissProt for SLC34A2 Gene:

O95436-NPT2B_HUMAN
Tissue specificity: Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis, prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium.

Evidence on tissue expression from TISSUES for SLC34A2 Gene

  • Intestine(4.7)
  • Lung(4.7)
  • Kidney(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC34A2 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • reproductive
  • respiratory
Regions:
Thorax:
  • lung
Pelvis:
  • testicle
genes like me logo Genes that share expression patterns with SLC34A2: view

No data available for Protein tissue co-expression partners for SLC34A2 Gene

Orthologs for SLC34A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC34A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC34A2 33 34
  • 99.28 (n)
rat
(Rattus norvegicus)
Mammalia Slc34a2 33
  • 81.11 (n)
dog
(Canis familiaris)
Mammalia SLC34A2 33 34
  • 80.97 (n)
cow
(Bos Taurus)
Mammalia SLC34A2 33 34
  • 80.9 (n)
mouse
(Mus musculus)
Mammalia Slc34a2 33 16 34
  • 80.72 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC34A2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC34A2 33 34
  • 65.54 (n)
lizard
(Anolis carolinensis)
Reptilia SLC34A2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc34a2 33
  • 61.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5596 33
zebrafish
(Danio rerio)
Actinopterygii slc34a2b 33 34
  • 64.25 (n)
slc34a2a 34
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK563.2 35 34
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1462 33
Species where no ortholog for SLC34A2 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC34A2 Gene

ENSEMBL:
Gene Tree for SLC34A2 (if available)
TreeFam:
Gene Tree for SLC34A2 (if available)

Paralogs for SLC34A2 Gene

Paralogs for SLC34A2 Gene

(4) SIMAP similar genes for SLC34A2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC34A2: view

Variants for SLC34A2 Gene

Sequence variations from dbSNP and Humsavar for SLC34A2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs137853141 pathogenic, PULMONARY ALVEOLAR MICROLITHIASIS 25,662,818(+) C/T coding_sequence_variant, stop_gained
rs137853142 pathogenic, PULMONARY ALVEOLAR MICROLITHIASIS, Pulmonary alveolar microlithiasis (PALM) [MIM:265100] 25,664,267(+) G/A/C coding_sequence_variant, missense_variant
rs796065044 pathogenic, PULMONARY ALVEOLAR MICROLITHIASIS 25,662,804(+) ACCTACCCACTCT/ coding_sequence_variant, frameshift
rs6448389 benign, not specified 25,676,577(+) A/G coding_sequence_variant, missense_variant
rs77319279 benign, not specified 25,667,908(+) T/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC34A2 Gene

Variant ID Type Subtype PubMed ID
esv3893899 CNV loss 25118596
nsv507156 OTHER sequence alteration 20534489
nsv526729 CNV loss 19592680
nsv997544 CNV gain 25217958

Variation tolerance for SLC34A2 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC34A2 Gene

Human Gene Mutation Database (HGMD)
SLC34A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC34A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC34A2 Gene

Disorders for SLC34A2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC34A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NPT2B_HUMAN
  • Note=A chromosomal aberration involving SLC34A2 is found in a glioblastoma multiforme cell line U-118MG. Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity. {ECO:0000269 PubMed:12661006}.
  • Pulmonary alveolar microlithiasis (PALM) [MIM:265100]: Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A sandstorm-appearing chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. {ECO:0000269 PubMed:16960801}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC34A2

genes like me logo Genes that share disorders with SLC34A2: view

No data available for Genatlas for SLC34A2 Gene

Publications for SLC34A2 Gene

  1. Molecular cloning, functional characterization, tissue distribution, and chromosomal localization of a human, small intestinal sodium-phosphate (Na+-Pi) transporter (SLC34A2). (PMID: 10610722) Xu H … Ghishan FK (Genomics 1999) 2 3 4 22 58
  2. Regulation of the human sodium-phosphate cotransporter NaP(i)-IIb gene promoter by epidermal growth factor. (PMID: 11171583) Xu H … Ghishan FK (American journal of physiology. Cell physiology 2001) 3 4 22 58
  3. Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine. (PMID: 10329428) Feild JA … Edwards RM (Biochemical and biophysical research communications 1999) 2 3 4 58
  4. [A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis]. (PMID: 20017296) Zhong YQ … Nie HP (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009) 3 22 58
  5. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. (PMID: 16960801) Corut A … Tolun A (American journal of human genetics 2006) 3 4 58

Products for SLC34A2 Gene

Sources for SLC34A2 Gene

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