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O95436

- NPT2B_HUMAN

UniProt

O95436 - NPT2B_HUMAN

Protein

Sodium-dependent phosphate transport protein 2B

Gene

SLC34A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    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.

    pH dependencei

    Optimum pH is 6.6.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei126 – 1272Breakpoint for translocation to form a SLC34A2-ROS1 fusion protein

    GO - Molecular functioni

    1. phosphate ion binding Source: UniProtKB
    2. sodium:phosphate symporter activity Source: UniProtKB
    3. sodium-dependent phosphate transmembrane transporter activity Source: UniProtKB
    4. sodium ion binding Source: UniProtKB

    GO - Biological processi

    1. aging Source: Ensembl
    2. cellular phosphate ion homeostasis Source: UniProtKB
    3. in utero embryonic development Source: Ensembl
    4. ion transport Source: Reactome
    5. phosphate ion transmembrane transport Source: GOC
    6. phosphate ion transport Source: UniProtKB
    7. response to estradiol Source: Ensembl
    8. response to estrogen Source: UniProtKB
    9. response to fructose Source: Ensembl
    10. sodium ion transmembrane transport Source: GOC
    11. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_19411. Type II Na+/Pi cotransporters.

    Protein family/group databases

    TCDBi2.A.58.1.4. the phosphate:na(+) symporter (pnas) family.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:SLC34A2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:11020. SLC34A2.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. brush border membrane Source: UniProtKB
    3. integral component of membrane Source: UniProtKB
    4. integral component of plasma membrane Source: UniProtKB
    5. microvillus membrane Source: Ensembl
    6. plasma membrane Source: Reactome
    7. vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti106 – 1061G → R in PALM. 1 Publication
    VAR_030677
    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.1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi265100. phenotype.
    Orphaneti60025. Pulmonary alveolar microlithiasis.
    PharmGKBiPA35888.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 690690Sodium-dependent phosphate transport protein 2BPRO_0000068613Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi303 ↔ 350By similarity
    Glycosylationi308 – 3081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi313 – 3131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi321 – 3211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi340 – 3401N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiO95436.
    PaxDbiO95436.
    PRIDEiO95436.

    PTM databases

    PhosphoSiteiO95436.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Inductioni

    Down-regulated by EGF.1 Publication

    Gene expression databases

    ArrayExpressiO95436.
    BgeeiO95436.
    CleanExiHS_SLC34A2.
    GenevestigatoriO95436.

    Organism-specific databases

    HPAiHPA037989.

    Interactioni

    Protein-protein interaction databases

    IntActiO95436. 1 interaction.
    STRINGi9606.ENSP00000371483.

    Structurei

    3D structure databases

    ProteinModelPortaliO95436.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 100100CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini122 – 13514ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini157 – 21256CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini234 – 362129ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini384 – 40724CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini429 – 48557ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini507 – 52519CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini547 – 5526ExtracellularSequence Analysis
    Topological domaini574 – 689116CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei101 – 12121Helical; Name=M1Sequence AnalysisAdd
    BLAST
    Transmembranei136 – 15621Helical; Name=M2Sequence AnalysisAdd
    BLAST
    Transmembranei213 – 23321Helical; Name=M3Sequence AnalysisAdd
    BLAST
    Transmembranei363 – 38321Helical; Name=M4Sequence AnalysisAdd
    BLAST
    Transmembranei408 – 42821Helical; Name=M5Sequence AnalysisAdd
    BLAST
    Transmembranei486 – 50621Helical; Name=M6Sequence AnalysisAdd
    BLAST
    Transmembranei526 – 54621Helical; Name=M7Sequence AnalysisAdd
    BLAST
    Transmembranei553 – 57321Helical; Name=M8Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi464 – 4674Poly-Thr
    Compositional biasi612 – 64433Cys-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SLC34A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1283.
    HOGENOMiHOG000006550.
    HOVERGENiHBG006527.
    InParanoidiO95436.
    KOiK14683.
    OMAiKTECTAL.
    OrthoDBiEOG72ZCDP.
    PhylomeDBiO95436.
    TreeFamiTF313981.

    Family and domain databases

    InterProiIPR003841. Na/Pi_transpt.
    [Graphical view]
    PfamiPF02690. Na_Pi_cotrans. 2 hits.
    [Graphical view]
    TIGRFAMsiTIGR01013. 2a58. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95436-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAPWPELGDA QPNPDKYLEG AAGQQPTAPD KSKETNKTDN TEAPVTKIEL    50
    LPSYSTATLI DEPTEVDDPW NLPTLQDSGI KWSERDTKGK ILCFFQGIGR 100
    LILLLGFLYF FVCSLDILSS AFQLVGGKMA GQFFSNSSIM SNPLLGLVIG 150
    VLVTVLVQSS STSTSIVVSM VSSSLLTVRA AIPIIMGANI GTSITNTIVA 200
    LMQVGDRSEF RRAFAGATVH DFFNWLSVLV LLPVEVATHY LEIITQLIVE 250
    SFHFKNGEDA PDLLKVITKP FTKLIVQLDK KVISQIAMND EKAKNKSLVK 300
    IWCKTFTNKT QINVTVPSTA NCTSPSLCWT DGIQNWTMKN VTYKENIAKC 350
    QHIFVNFHLP DLAVGTILLI LSLLVLCGCL IMIVKILGSV LKGQVATVIK 400
    KTINTDFPFP FAWLTGYLAI LVGAGMTFIV QSSSVFTSAL TPLIGIGVIT 450
    IERAYPLTLG SNIGTTTTAI LAALASPGNA LRSSLQIALC HFFFNISGIL 500
    LWYPIPFTRL PIRMAKGLGN ISAKYRWFAV FYLIIFFFLI PLTVFGLSLA 550
    GWRVLVGVGV PVVFIIILVL CLRLLQSRCP RVLPKKLQNW NFLPLWMRSL 600
    KPWDAVVSKF TGCFQMRCCC CCRVCCRACC LLCDCPKCCR CSKCCEDLEE 650
    AQEGQDVPVK APETFDNITI SREAQGEVPA SDSKTECTAL 690
    Length:690
    Mass (Da):75,759
    Last modified:November 30, 2010 - v3
    Checksum:i3BDB1920CA92C035
    GO
    Isoform 2 (identifier: O95436-2) [UniParc]FASTAAdd to Basket

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

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

    Show »
    Length:689
    Mass (Da):75,657
    Checksum:iB8D40075B1266490
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti228 – 2281V → L in AAF31328. (PubMed:10610722)Curated
    Sequence conflicti228 – 2281V → L in AAL55657. (PubMed:11171583)Curated
    Sequence conflicti330 – 3301T → V in BAC11354. (PubMed:14702039)Curated
    Sequence conflicti590 – 5956Missing in BAC11354. (PubMed:14702039)Curated
    Sequence conflicti620 – 6201C → Y in AAC98695. (PubMed:10329428)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451V → A.
    Corresponds to variant rs35426730 [ dbSNP | Ensembl ].
    VAR_034156
    Natural varianti106 – 1061G → R in PALM. 1 Publication
    VAR_030677
    Natural varianti634 – 6341D → G.4 Publications
    Corresponds to variant rs6448389 [ dbSNP | Ensembl ].
    VAR_030678

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei38 – 392TD → N in isoform 2. 2 PublicationsVSP_016755

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    AH011306 Genomic DNA. Translation: AAL55657.1.
    AK075015 mRNA. Translation: BAC11354.1. Different initiation.
    CCDSiCCDS3435.1. [O95436-1]
    CCDS54750.1. [O95436-2]
    RefSeqiNP_001171469.1. NM_001177998.1.
    NP_001171470.1. NM_001177999.1.
    NP_006415.2. NM_006424.2.
    UniGeneiHs.479372.

    Genome annotation databases

    EnsembliENST00000382051; ENSP00000371483; ENSG00000157765. [O95436-1]
    ENST00000503434; ENSP00000423021; ENSG00000157765. [O95436-2]
    ENST00000504570; ENSP00000425501; ENSG00000157765. [O95436-2]
    GeneIDi10568.
    KEGGihsa:10568.
    UCSCiuc003grr.3. human. [O95436-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    AH011306 Genomic DNA. Translation: AAL55657.1 .
    AK075015 mRNA. Translation: BAC11354.1 . Different initiation.
    CCDSi CCDS3435.1. [O95436-1 ]
    CCDS54750.1. [O95436-2 ]
    RefSeqi NP_001171469.1. NM_001177998.1.
    NP_001171470.1. NM_001177999.1.
    NP_006415.2. NM_006424.2.
    UniGenei Hs.479372.

    3D structure databases

    ProteinModelPortali O95436.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi O95436. 1 interaction.
    STRINGi 9606.ENSP00000371483.

    Protein family/group databases

    TCDBi 2.A.58.1.4. the phosphate:na(+) symporter (pnas) family.

    PTM databases

    PhosphoSitei O95436.

    Proteomic databases

    MaxQBi O95436.
    PaxDbi O95436.
    PRIDEi O95436.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382051 ; ENSP00000371483 ; ENSG00000157765 . [O95436-1 ]
    ENST00000503434 ; ENSP00000423021 ; ENSG00000157765 . [O95436-2 ]
    ENST00000504570 ; ENSP00000425501 ; ENSG00000157765 . [O95436-2 ]
    GeneIDi 10568.
    KEGGi hsa:10568.
    UCSCi uc003grr.3. human. [O95436-1 ]

    Organism-specific databases

    CTDi 10568.
    GeneCardsi GC04P025657.
    HGNCi HGNC:11020. SLC34A2.
    HPAi HPA037989.
    MIMi 265100. phenotype.
    604217. gene.
    neXtProti NX_O95436.
    Orphaneti 60025. Pulmonary alveolar microlithiasis.
    PharmGKBi PA35888.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1283.
    HOGENOMi HOG000006550.
    HOVERGENi HBG006527.
    InParanoidi O95436.
    KOi K14683.
    OMAi KTECTAL.
    OrthoDBi EOG72ZCDP.
    PhylomeDBi O95436.
    TreeFami TF313981.

    Enzyme and pathway databases

    Reactomei REACT_19411. Type II Na+/Pi cotransporters.

    Miscellaneous databases

    ChiTaRSi SLC34A2. human.
    GeneWikii SLC34A2.
    GenomeRNAii 10568.
    NextBioi 40109.
    PROi O95436.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95436.
    Bgeei O95436.
    CleanExi HS_SLC34A2.
    Genevestigatori O95436.

    Family and domain databases

    InterProi IPR003841. Na/Pi_transpt.
    [Graphical view ]
    Pfami PF02690. Na_Pi_cotrans. 2 hits.
    [Graphical view ]
    TIGRFAMsi TIGR01013. 2a58. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [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.
      , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.
      , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: VARIANT PALM ARG-106.

    Entry informationi

    Entry nameiNPT2B_HUMAN
    AccessioniPrimary (citable) accession number: O95436
    Secondary accession number(s): A5PL17
    , Q8N2K2, Q8WYA9, Q9P0V7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 105 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3