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Q9UI40

- NCKX2_HUMAN

UniProt

Q9UI40 - NCKX2_HUMAN

Protein

Sodium/potassium/calcium exchanger 2

Gene

SLC24A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+.

    GO - Molecular functioni

    1. cadmium ion binding Source: Ensembl
    2. calcium, potassium:sodium antiporter activity Source: MGI
    3. calcium channel activity Source: Ensembl
    4. calcium ion binding Source: Ensembl
    5. manganese ion binding Source: Ensembl
    6. nickel cation binding Source: Ensembl
    7. potassium ion binding Source: Ensembl
    8. sodium ion binding Source: Ensembl
    9. symporter activity Source: UniProtKB-KW

    GO - Biological processi

    1. cellular calcium ion homeostasis Source: Ensembl
    2. ion transmembrane transport Source: MGI
    3. ion transport Source: Reactome
    4. learning Source: Ensembl
    5. long term synaptic depression Source: Ensembl
    6. long-term synaptic potentiation Source: Ensembl
    7. memory Source: Ensembl
    8. sodium ion transmembrane transport Source: GOC
    9. transmembrane transport Source: Reactome
    10. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Antiport, Calcium transport, Ion transport, Potassium transport, Sensory transduction, Sodium transport, Symport, Transport, Vision

    Keywords - Ligandi

    Calcium, Potassium, Sodium

    Enzyme and pathway databases

    ReactomeiREACT_19320. Sodium/Calcium exchangers.

    Protein family/group databases

    TCDBi2.A.19.4.11. the ca(2+):cation antiporter (caca) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium/potassium/calcium exchanger 2
    Alternative name(s):
    Na(+)/K(+)/Ca(2+)-exchange protein 2
    Retinal cone Na-Ca+K exchanger
    Solute carrier family 24 member 2
    Gene namesi
    Name:SLC24A2
    Synonyms:NCKX2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:10976. SLC24A2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. intrinsic component of plasma membrane Source: Ensembl
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi111 – 1111N → D: Loss of N-glycosylation. 1 Publication

    Organism-specific databases

    PharmGKBiPA35852.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 661661Sodium/potassium/calcium exchanger 2PRO_0000019367Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi111 – 1111N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UI40.
    PRIDEiQ9UI40.

    PTM databases

    PhosphoSiteiQ9UI40.

    Expressioni

    Gene expression databases

    BgeeiQ9UI40.
    CleanExiHS_SLC24A2.
    GenevestigatoriQ9UI40.

    Organism-specific databases

    HPAiHPA057278.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UI40.
    SMRiQ9UI40. Positions 155-277, 471-576.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3838CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini60 – 13273ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini154 – 17825CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini200 – 2045ExtracellularSequence Analysis
    Topological domaini226 – 24318CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini265 – 2651ExtracellularSequence Analysis
    Topological domaini287 – 497211CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini519 – 53315ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini555 – 56915CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini591 – 60212ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini624 – 6307CytoplasmicSequence Analysis
    Topological domaini652 – 66110ExtracellularSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei39 – 5921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei133 – 15321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei205 – 22521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei244 – 26421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei266 – 28621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei498 – 51821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei534 – 55421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei570 – 59021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei603 – 62321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei631 – 65121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati174 – 21441Alpha-1Add
    BLAST
    Repeati541 – 57232Alpha-2Add
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0530.
    HOGENOMiHOG000231933.
    HOVERGENiHBG054881.
    InParanoidiQ9UI40.
    KOiK13750.
    OMAiGYHQRTL.
    OrthoDBiEOG776SP8.
    PhylomeDBiQ9UI40.
    TreeFamiTF318759.

    Family and domain databases

    InterProiIPR004481. K/Na/Ca-exchanger.
    IPR004837. NaCa_Exmemb.
    [Graphical view]
    PANTHERiPTHR10846. PTHR10846. 1 hit.
    PfamiPF01699. Na_Ca_ex. 2 hits.
    [Graphical view]
    TIGRFAMsiTIGR00367. TIGR00367. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UI40-1) [UniParc]FASTAAdd to Basket

    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

    MDLQQSTTIT SLEKWCLDES LSGCRRHYSV KKKLKLIRVL GLFMGLVAIS    50
    TVSFSISAFS ETDTQSTGEA SVVSGPRVAQ GYHQRTLLDL NDKILDYTPQ 100
    PPLSKEGESE NSTDHAQGDY PKDIFSLEER RKGAIILHVI GMIYMFIALA 150
    IVCDEFFVPS LTVITEKLGI SDDVAGATFM AAGGSAPELF TSLIGVFIAH 200
    SNVGIGTIVG SAVFNILFVI GMCALFSREI LNLTWWPLFR DVSFYIVDLI 250
    MLIIFFLDNV IMWWESLLLL TAYFCYVVFM KFNVQVEKWV KQMINRNKVV 300
    KVTAPEAQAK PSAARDKDEP TLPAKPRLQR GGSSASLHNS LMRNSIFQLM 350
    IHTLDPLAEE LGSYGKLKYY DTMTEEGRFR EKASILHKIA KKKCHVDENE 400
    RQNGAANHVE KIELPNSTST DVEMTPSSDA SEPVQNGNLS HNIEGAEAQT 450
    ADEEEDQPLS LAWPSETRKQ VTFLIVFPIV FPLWITLPDV RKPSSRKFFP 500
    ITFFGSITWI AVFSYLMVWW AHQVGETIGI SEEIMGLTIL AAGTSIPDLI 550
    TSVIVARKGL GDMAVSSSVG SNIFDITVGL PLPWLLYTVI HRFQPVAVSS 600
    NGLFCAIVLL FIMLLFVILS IALCKWRMNK ILGFIMFGLY FVFLVVSVLL 650
    EDRILTCPVS I 661
    Length:661
    Mass (Da):73,664
    Last modified:May 1, 2000 - v1
    Checksum:iE6359C1F95C3AB3E
    GO
    Isoform 2 (identifier: Q9UI40-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         360-376: Missing.

    Show »
    Length:644
    Mass (Da):71,655
    Checksum:i1DFB85DFA82A3F4B
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei360 – 37617Missing in isoform 2. 2 PublicationsVSP_006164Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF097366 mRNA. Translation: AAF21810.1.
    AF177987 mRNA. Translation: AAF25811.1.
    AL158077, AL133281, AL158206 Genomic DNA. Translation: CAH74108.1.
    AL158206, AL133281, AL158077 Genomic DNA. Translation: CAH73020.1.
    AL133281, AL158077, AL158206 Genomic DNA. Translation: CAH71736.1.
    AL158077, AL133281, AL158206 Genomic DNA. Translation: CAH74109.1.
    AL158206, AL133281, AL158077 Genomic DNA. Translation: CAH73021.1.
    AL133281, AL158077, AL158206 Genomic DNA. Translation: CAH71737.1.
    BC069622 mRNA. Translation: AAH69622.1.
    BC143889 mRNA. Translation: AAI43890.1.
    CCDSiCCDS55297.1. [Q9UI40-2]
    CCDS6493.1. [Q9UI40-1]
    RefSeqiNP_001180217.1. NM_001193288.2. [Q9UI40-2]
    NP_065077.1. NM_020344.3. [Q9UI40-1]
    XP_005251482.1. XM_005251425.1. [Q9UI40-1]
    XP_005251483.1. XM_005251426.2. [Q9UI40-1]
    XP_006716813.1. XM_006716750.1. [Q9UI40-2]
    UniGeneiHs.283014.
    Hs.590750.
    Hs.738749.

    Genome annotation databases

    EnsembliENST00000286344; ENSP00000286344; ENSG00000155886. [Q9UI40-2]
    ENST00000341998; ENSP00000344801; ENSG00000155886. [Q9UI40-1]
    GeneIDi25769.
    KEGGihsa:25769.
    UCSCiuc003zoa.2. human. [Q9UI40-1]
    uc003zob.2. human. [Q9UI40-2]

    Polymorphism databases

    DMDMi17865516.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF097366 mRNA. Translation: AAF21810.1 .
    AF177987 mRNA. Translation: AAF25811.1 .
    AL158077 , AL133281 , AL158206 Genomic DNA. Translation: CAH74108.1 .
    AL158206 , AL133281 , AL158077 Genomic DNA. Translation: CAH73020.1 .
    AL133281 , AL158077 , AL158206 Genomic DNA. Translation: CAH71736.1 .
    AL158077 , AL133281 , AL158206 Genomic DNA. Translation: CAH74109.1 .
    AL158206 , AL133281 , AL158077 Genomic DNA. Translation: CAH73021.1 .
    AL133281 , AL158077 , AL158206 Genomic DNA. Translation: CAH71737.1 .
    BC069622 mRNA. Translation: AAH69622.1 .
    BC143889 mRNA. Translation: AAI43890.1 .
    CCDSi CCDS55297.1. [Q9UI40-2 ]
    CCDS6493.1. [Q9UI40-1 ]
    RefSeqi NP_001180217.1. NM_001193288.2. [Q9UI40-2 ]
    NP_065077.1. NM_020344.3. [Q9UI40-1 ]
    XP_005251482.1. XM_005251425.1. [Q9UI40-1 ]
    XP_005251483.1. XM_005251426.2. [Q9UI40-1 ]
    XP_006716813.1. XM_006716750.1. [Q9UI40-2 ]
    UniGenei Hs.283014.
    Hs.590750.
    Hs.738749.

    3D structure databases

    ProteinModelPortali Q9UI40.
    SMRi Q9UI40. Positions 155-277, 471-576.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    TCDBi 2.A.19.4.11. the ca(2+):cation antiporter (caca) family.

    PTM databases

    PhosphoSitei Q9UI40.

    Polymorphism databases

    DMDMi 17865516.

    Proteomic databases

    PaxDbi Q9UI40.
    PRIDEi Q9UI40.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000286344 ; ENSP00000286344 ; ENSG00000155886 . [Q9UI40-2 ]
    ENST00000341998 ; ENSP00000344801 ; ENSG00000155886 . [Q9UI40-1 ]
    GeneIDi 25769.
    KEGGi hsa:25769.
    UCSCi uc003zoa.2. human. [Q9UI40-1 ]
    uc003zob.2. human. [Q9UI40-2 ]

    Organism-specific databases

    CTDi 25769.
    GeneCardsi GC09M019507.
    HGNCi HGNC:10976. SLC24A2.
    HPAi HPA057278.
    MIMi 609838. gene.
    neXtProti NX_Q9UI40.
    PharmGKBi PA35852.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0530.
    HOGENOMi HOG000231933.
    HOVERGENi HBG054881.
    InParanoidi Q9UI40.
    KOi K13750.
    OMAi GYHQRTL.
    OrthoDBi EOG776SP8.
    PhylomeDBi Q9UI40.
    TreeFami TF318759.

    Enzyme and pathway databases

    Reactomei REACT_19320. Sodium/Calcium exchangers.

    Miscellaneous databases

    ChiTaRSi SLC24A2. human.
    GenomeRNAii 25769.
    NextBioi 46893.
    PROi Q9UI40.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UI40.
    CleanExi HS_SLC24A2.
    Genevestigatori Q9UI40.

    Family and domain databases

    InterProi IPR004481. K/Na/Ca-exchanger.
    IPR004837. NaCa_Exmemb.
    [Graphical view ]
    PANTHERi PTHR10846. PTHR10846. 1 hit.
    Pfami PF01699. Na_Ca_ex. 2 hits.
    [Graphical view ]
    TIGRFAMsi TIGR00367. TIGR00367. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and functional expression of the potassium-dependent sodium-calcium exchanger from human and chicken retinal cone photoreceptors."
      Prinsen C.F.M., Szerencsei R.T., Schnetkamp P.P.M.
      J. Neurosci. 20:1424-1434(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Retina.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 1 AND 2).
    4. Cited for: TOPOLOGY, MUTAGENESIS OF ASN-111, GLYCOSYLATION AT ASN-111.

    Entry informationi

    Entry nameiNCKX2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UI40
    Secondary accession number(s): B7ZLL8, Q9NTN5, Q9NZQ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 13, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 117 of the entry and version 1 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 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3