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UniProtKB/Swiss-Prot entry O95436


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name NPT2B_HUMAN
Primary accession number O95436
Secondary accession numbers Q8N2K2 Q8WYA9 Q9P0V7
Integrated into Swiss-Prot on December 20, 2005
Sequence was last modified on December 20, 2005 (Sequence version 2)
Annotations were last modified on    June 10, 2008 (Entry version 47)
Name and origin of the protein
Protein name Sodium-dependent phosphate transport protein 2B
Synonyms Sodium-phosphate transport protein 2B
Na(+)-dependent phosphate cotransporter 2B
Sodium/phosphate cotransporter 2B
Na(+)/Pi cotransporter 2B
NaPi-2b
NaPi3b
Solute carrier family 34 member 2
Gene name
Name: SLC34A2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), BIOPHYSICOCHEMICAL PROPERTIES, AND TISSUE SPECIFICITY.
TISSUE=Lung, and Small intestine;
DOI=10.1006/bbrc.1999.0666; PubMed=10329428 [NCBI, ExPASy, EBI, Israel, Japan]
Feild J.A., Zhang L., Brun K.A., Brooks D.P., Edwards R.M.;
"Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine.";
Biochem. Biophys. Res. Commun. 258:578-582(1999).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
TISSUE=Small intestine;
DOI=10.1006/geno.1999.6009; PubMed=10610722 [NCBI, ExPASy, EBI, Israel, Japan]
Xu H., Bai L., Collins J.F., Ghishan F.K.;
"Molecular cloning, functional characterization, tissue distribution, and chromosomal localization of a human, small intestinal sodium-phosphate (Na+-Pi) transporter (SLC34A2).";
Genomics 62:281-284(1999).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-592 (ISOFORM 2), AND INDUCTION.
TISSUE=Intestine;
PubMed=11171583 [NCBI, ExPASy, EBI, Israel, Japan]
Xu H., Collins J.F., Bai L., Kiela P.R., Ghishan F.K.;
"Regulation of the human sodium-phosphate cotransporter NaPi-IIb gene promoter by epidermal growth factor.";
Am. J. Physiol. 280:C628-C636(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-690.
TISSUE=Ovarian carcinoma;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
VARIANT PULMONARY ALVEOLAR MICROLITHIASIS ARG-106.
DOI=10.1086/508263; PubMed=16960801 [NCBI, ExPASy, EBI, Israel, Japan]
Corut A., Senyigit A., Ugur S.A., Altin S., Ozcelik U., Calisir H., Yildirim Z., Gocmen A., Tolun A.;
"Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.";
Am. J. Hum. Genet. 79:650-656(2006).
Comments
  • 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.
  • BIOPHYSICOCHEMICAL PROPERTIES:
    pH dependence:   Optimum pH is 6.6;
  • SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.
    Name1
    SynonymsNaPi-3b
    Isoform IDO95436-1
    This is the isoform sequence displayed in this entry.
    Name2
    SynonymsNaPi-2b, NaPi-IIb
    Isoform IDO95436-2
    Features which should be applied to build the isoform sequence: VSP_016755.
  • 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.
  • INDUCTION: Down-regulated by EGF.
  • DISEASE: Defects in SLC34A2 are a cause of pulmonary alveolar microlithiasis [MIM:265100]. Pulmonary alveolar microlithiasis is a 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.
  • SIMILARITY: Belongs to the SLC34A transporter family.
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SLC34A2";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF111856; AAC98695.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF146796; AAF31328.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234245; AAL55657.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234237; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234238; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234239; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234242; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234244; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234243; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF234241; AAL55657.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK075015; BAC11354.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_006415.2; -.
UniGene Hs.479372
3D structure databases
ModBase O95436.
PTM databases
PhosphoSite O95436; -.
Organism-specific databases
HGNC HGNC:11020; SLC34A2.
GeneLynx SLC34A2; Homo sapiens.
GenAtlas SLC34A2.
MIM 265100; phenotype. [NCBI / EBI]
604217; gene. [NCBI / EBI]
Orphanet 60025; Pulmonary alveolar microlithiasis.
PharmGKB PA35888; -.
GeneCards O95436.
Gene expression databases
ArrayExpress O95436; -.
CleanEx HS_SLC34A2; -.
GermOnline ENSG00000157765; Homo sapiens.
Ontologies
GO
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0005624; Cellular component: membrane fraction (traceable author statement from ProtInc).
GO:0015321; Molecular function: sodium-dependent phosphate transmembrane transporter activity (traceable author statement from ProtInc).
GO:0006796; Biological process: phosphate metabolic process (traceable author statement from ProtInc).
GO:0006817; Biological process: phosphate transport (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR003841; Na/Pi_cotranspt.
Graphical view of domain structure.
Pfam PF02690; Na_Pi_cotrans; 2.
Pfam graphical view of domain structure.
TIGRFAMs TIGR01013; 2a58; 1.
BLOCKS O95436.
Genome annotation databases
Ensembl ENSG00000157765; Homo sapiens. [Contig view]
GeneID 10568; -.
KEGG hsa:10568; -.
Phylogenomic databases
HOGENOM O95436; -.
HOVERGEN O95436; -.
Other
SOURCE SLC34A2; Homo sapiens.
ProtoNet O95436.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Disease mutation; Glycoprotein; Ion transport; Membrane; Polymorphism; Sodium; Sodium transport; Symport; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   690  690     Sodium-dependent phosphate transport protein 2B. PRO_0000068613
TOPO_DOM   1   100  100     Cytoplasmic (Potential). 
TRANSMEM   101   121  21     M1 (Potential). 
TOPO_DOM   122   135  14     Extracellular (Potential). 
TRANSMEM   136   156  21     M2 (Potential). 
TOPO_DOM   157   212  56     Cytoplasmic (Potential). 
TRANSMEM   213   233  21     M3 (Potential). 
TOPO_DOM   234   362  129     Extracellular (Potential). 
TRANSMEM   363   383  21     M4 (Potential). 
TOPO_DOM   384   407  24     Cytoplasmic (Potential). 
TRANSMEM   408   428  21     M5 (Potential). 
TOPO_DOM   429   485  57     Extracellular (Potential). 
TRANSMEM   486   506  21     M6 (Potential). 
TOPO_DOM   507   525  19     Cytoplasmic (Potential). 
TRANSMEM   526   546  21     M7 (Potential). 
TOPO_DOM   547   552  6     Extracellular (Potential). 
TRANSMEM   553   573  21     M8 (Potential). 
TOPO_DOM   574   689  116     Cytoplasmic (Potential). 
COMPBIAS   464   467  4     Poly-Thr. 
COMPBIAS   612   644  33     Cys-rich. 
CARBOHYD   295   295        N-linked (GlcNAc...) (Potential). 
CARBOHYD   308   308        N-linked (GlcNAc...) (Potential). 
CARBOHYD   313   313        N-linked (GlcNAc...) (Potential). 
CARBOHYD   321   321        N-linked (GlcNAc...) (Potential). 
CARBOHYD   340   340        N-linked (GlcNAc...) (Potential). 
DISULFID   303   350        By similarity. 
VAR_SEQ   38    39        TD -> N (in isoform 2). VSP_016755
VARIANT   45    45  1     V -> A (in dbSNP:rs35426730 [NCBI]). VAR_034156 
VARIANT   106   106  1     G -> R (in pulmonary alveolar microlithiasis). VAR_030677 
VARIANT   634   634  1     G -> D (in dbSNP:rs6448389 [NCBI]). VAR_030678 
CONFLICT   228   228        V -> L (in Ref. 2 and 3). 
CONFLICT   330   330        T -> V (in Ref. 4; BAC11354). 
CONFLICT   590   595        Missing (in Ref. 4). 
CONFLICT   620   620        C -> Y (in Ref. 1; AAC98695). 
Sequence information
Length: 690 AA [This is the length of the unprocessed precursor] Molecular weight: 75701 Da [This is the MW of the unprocessed precursor] CRC64: 38D81923C992C035 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAPWPELGDA QPNPDKYLEG AAGQQPTAPD KSKETNKTDN TEAPVTKIEL LPSYSTATLI 

        70         80         90        100        110        120 
DEPTEVDDPW NLPTLQDSGI KWSERDTKGK ILCFFQGIGR LILLLGFLYF FVCSLDILSS 

       130        140        150        160        170        180 
AFQLVGGKMA GQFFSNSSIM SNPLLGLVIG VLVTVLVQSS STSTSIVVSM VSSSLLTVRA 

       190        200        210        220        230        240 
AIPIIMGANI GTSITNTIVA LMQVGDRSEF RRAFAGATVH DFFNWLSVLV LLPVEVATHY 

       250        260        270        280        290        300 
LEIITQLIVE SFHFKNGEDA PDLLKVITKP FTKLIVQLDK KVISQIAMND EKAKNKSLVK 

       310        320        330        340        350        360 
IWCKTFTNKT QINVTVPSTA NCTSPSLCWT DGIQNWTMKN VTYKENIAKC QHIFVNFHLP 

       370        380        390        400        410        420 
DLAVGTILLI LSLLVLCGCL IMIVKILGSV LKGQVATVIK KTINTDFPFP FAWLTGYLAI 

       430        440        450        460        470        480 
LVGAGMTFIV QSSSVFTSAL TPLIGIGVIT IERAYPLTLG SNIGTTTTAI LAALASPGNA 

       490        500        510        520        530        540 
LRSSLQIALC HFFFNISGIL LWYPIPFTRL PIRMAKGLGN ISAKYRWFAV FYLIIFFFLI 

       550        560        570        580        590        600 
PLTVFGLSLA GWRVLVGVGV PVVFIIILVL CLRLLQSRCP RVLPKKLQNW NFLPLWMRSL 

       610        620        630        640        650        660 
KPWDAVVSKF TGCFQMRCCC CCRVCCRACC LLCGCPKCCR CSKCCEDLEE AQEGQDVPVK 

       670        680        690 
APETFDNITI SREAQGEVPA SDSKTECTAL 

O95436 in FASTA format

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