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O95436 (NPT2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Sodium-dependent phosphate transport protein 2B
Short name=Sodium-phosphate transport protein 2B
Alternative name(s):
Na(+)-dependent phosphate cotransporter 2B
NaPi3b
Sodium/phosphate cotransporter 2B
Short name=Na(+)/Pi cotransporter 2B
Short name=NaPi-2b
Solute carrier family 34 member 2
Gene names
Name:SLC34A2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length690 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (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.

Subcellular location

Membrane; Multi-pass membrane protein.

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. Ref.1 Ref.2

Induction

Down-regulated by EGF. Ref.5

Involvement in disease

Defects in SLC34A2 are a cause of pulmonary alveolar microlithiasis (PALM) [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. Ref.7 Ref.8

Note=A chromosomal aberration involving SLC34A2 is found in a non-small cell lung cancer cell line. Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity. Ref.7

Sequence similarities

Belongs to the SLC34A transporter family.

Biophysicochemical properties

pH dependence:

Optimum pH is 6.6. Ref.1

Sequence caution

The sequence BAC11354.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95436-1)

Also known as: NaPi-3b;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O95436-2)

Also known as: NaPi-2b; NaPi-IIb;

The sequence of this isoform differs from the canonical sequence as follows:
     38-39: TD → N

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 690690Sodium-dependent phosphate transport protein 2B
PRO_0000068613

Regions

Topological domain1 – 100100Cytoplasmic Potential
Transmembrane101 – 12121Helical; Name=M1; Potential
Topological domain122 – 13514Extracellular Potential
Transmembrane136 – 15621Helical; Name=M2; Potential
Topological domain157 – 21256Cytoplasmic Potential
Transmembrane213 – 23321Helical; Name=M3; Potential
Topological domain234 – 362129Extracellular Potential
Transmembrane363 – 38321Helical; Name=M4; Potential
Topological domain384 – 40724Cytoplasmic Potential
Transmembrane408 – 42821Helical; Name=M5; Potential
Topological domain429 – 48557Extracellular Potential
Transmembrane486 – 50621Helical; Name=M6; Potential
Topological domain507 – 52519Cytoplasmic Potential
Transmembrane526 – 54621Helical; Name=M7; Potential
Topological domain547 – 5526Extracellular Potential
Transmembrane553 – 57321Helical; Name=M8; Potential
Topological domain574 – 689116Cytoplasmic Potential
Compositional bias464 – 4674Poly-Thr
Compositional bias612 – 64433Cys-rich

Sites

Site126 – 1272Breakpoint for translocation to form a SLC34A2-ROS1 fusion protein

Amino acid modifications

Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation3081N-linked (GlcNAc...) Potential
Glycosylation3131N-linked (GlcNAc...) Potential
Glycosylation3211N-linked (GlcNAc...) Potential
Glycosylation3401N-linked (GlcNAc...) Potential
Disulfide bond303 ↔ 350 By similarity

Natural variations

Alternative sequence38 – 392TD → N in isoform 2.
VSP_016755
Natural variant451V → A.
Corresponds to variant rs35426730 [ dbSNP | Ensembl ].
VAR_034156
Natural variant1061G → R in PALM. Ref.8
VAR_030677
Natural variant6341D → G. Ref.1 Ref.2 Ref.4 Ref.6
Corresponds to variant rs6448389 [ dbSNP | Ensembl ].
VAR_030678

Experimental info

Sequence conflict2281V → L in AAF31328. Ref.2
Sequence conflict2281V → L in AAL55657. Ref.5
Sequence conflict3301T → V in BAC11354. Ref.6
Sequence conflict590 – 5956Missing in BAC11354. Ref.6
Sequence conflict6201C → Y in AAC98695. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (NaPi-3b) [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: 3BDB1920CA92C035

FASTA69075,759
        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 LLCDCPKCCR CSKCCEDLEE AQEGQDVPVK 

       670        680        690 
APETFDNITI SREAQGEVPA SDSKTECTAL

« Hide

Isoform 2 (NaPi-2b) (NaPi-IIb) [UniParc].

Checksum: B8D40075B1266490
Show »

FASTA68975,657

References

« Hide 'large scale' references
[1]"Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine."
Feild J.A., Zhang L., Brun K.A., Brooks D.P., Edwards R.M.
Biochem. Biophys. Res. Commun. 258:578-582(1999) [PubMed: 10329428] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY, VARIANT GLY-634.
Tissue: Lung and Small intestine.
[2]"Molecular cloning, functional characterization, tissue distribution, and chromosomal localization of a human, small intestinal sodium-phosphate (Na+-Pi) transporter (SLC34A2)."
Xu H., Bai L., Collins J.F., Ghishan F.K.
Genomics 62:281-284(1999) [PubMed: 10610722] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT GLY-634.
Tissue: Small intestine.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed: 15815621] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-634.
[5]"Regulation of the human sodium-phosphate cotransporter NaPi-IIb gene promoter by epidermal growth factor."
Xu H., Collins J.F., Bai L., Kiela P.R., Ghishan F.K.
Am. J. Physiol. 280:C628-C636(2001) [PubMed: 11171583] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-592 (ISOFORM 2), INDUCTION.
Tissue: Intestine.
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-690, VARIANT GLY-634.
Tissue: Ovarian carcinoma.
[7]"Fusion of FIG to the receptor tyrosine kinase ROS in a glioblastoma with an interstitial del(6)(q21q21)."
Charest A., Lane K., McMahon K., Park J., Preisinger E., Conroy H., Housman D.
Genes Chromosomes Cancer 37:58-71(2003) [PubMed: 12661006] [Abstract]
Cited for: DISEASE, CHROMOSOMAL TRANSLOCATION WITH ROS1.
[8]"Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis."
Corut A., Senyigit A., Ugur S.A., Altin S., Ozcelik U., Calisir H., Yildirim Z., Gocmen A., Tolun A.
Am. J. Hum. Genet. 79:650-656(2006) [PubMed: 16960801] [Abstract]
Cited for: VARIANT PALM ARG-106.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF111856 mRNA. Translation: AAC98695.1.
AF146796 mRNA. Translation: AAF31328.1.
AC092436 Genomic DNA. No translation available.
BC142704 mRNA. Translation: AAI42705.1.
BC146666 mRNA. Translation: AAI46667.1.
AF234245 expand/collapse EMBL AC list , AF234237, AF234238, AF234239, AF234242, AF234244, AF234243, AF234241 Genomic DNA. Translation: AAL55657.1.
AK075015 mRNA. Translation: BAC11354.1. Different initiation.
IPIIPI00007910.
IPI00657725.
RefSeqNP_001171469.1. NM_001177998.1.
NP_001171470.1. NM_001177999.1.
NP_006415.2. NM_006424.2.
UniGeneHs.479372.

3D structure databases

ProteinModelPortalO95436.
ModBaseSearch...

Protein-protein interaction databases

STRINGO95436.

PTM databases

PhosphoSiteO95436.

Proteomic databases

PRIDEO95436.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382051; ENSP00000371483; ENSG00000157765.
GeneID10568.
KEGGhsa:10568.
UCSCuc003grr.1. human.
uc003grs.1. human.

Organism-specific databases

CTD10568.
GeneCardsGC04P025657.
HGNCHGNC:11020. SLC34A2.
HPAHPA037989.
MIM265100. phenotype.
604217. gene.
neXtProtNX_O95436.
Orphanet60025. Pulmonary alveolar microlithiasis.
PharmGKBPA35888.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG06998.
GeneTreeENSGT00390000005032.
HOGENOMHBG444965.
HOVERGENHBG006527.
InParanoidO95436.
OMAFTKLIVQ.
PhylomeDBO95436.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO95436.
BgeeO95436.
CleanExHS_SLC34A2.
GenevestigatorO95436.
GermOnlineENSG00000157765. Homo sapiens.

Family and domain databases

InterProIPR003841. Na/Pi_cotranspt.
[Graphical view]
KOK14683.
PfamPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
TIGRFAMsTIGR01013. 2a58. 1 hit.
ProtoNetSearch...

Other

NextBio40109.
SOURCESearch...

Entry information

Entry nameNPT2B_HUMAN
AccessionPrimary (citable) accession number: O95436
Secondary accession number(s): A5PL17 expand/collapse secondary AC list , Q8N2K2, Q8WYA9, Q9P0V7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: November 30, 2010
Last modified: January 25, 2012
This is version 81 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

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