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Q9UI40

- NCKX2_HUMAN

UniProt

Q9UI40 - NCKX2_HUMAN

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Protein
Sodium/potassium/calcium exchanger 2
Gene
SLC24A2, NCKX2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 channel activity Source: Ensembl
  3. calcium ion binding Source: Ensembl
  4. calcium, potassium:sodium antiporter activity Source: MGI
  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
Complete GO annotation...

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3838Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei39 – 5921Helical; Reviewed prediction
Add
BLAST
Topological domaini60 – 13273Extracellular Reviewed prediction
Add
BLAST
Transmembranei133 – 15321Helical; Reviewed prediction
Add
BLAST
Topological domaini154 – 17825Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei179 – 19921Helical; Reviewed prediction
Add
BLAST
Topological domaini200 – 2045Extracellular Reviewed prediction
Transmembranei205 – 22521Helical; Reviewed prediction
Add
BLAST
Topological domaini226 – 24318Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei244 – 26421Helical; Reviewed prediction
Add
BLAST
Topological domaini265 – 2651Extracellular Reviewed prediction
Transmembranei266 – 28621Helical; Reviewed prediction
Add
BLAST
Topological domaini287 – 497211Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei498 – 51821Helical; Reviewed prediction
Add
BLAST
Topological domaini519 – 53315Extracellular Reviewed prediction
Add
BLAST
Transmembranei534 – 55421Helical; Reviewed prediction
Add
BLAST
Topological domaini555 – 56915Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei570 – 59021Helical; Reviewed prediction
Add
BLAST
Topological domaini591 – 60212Extracellular Reviewed prediction
Add
BLAST
Transmembranei603 – 62321Helical; Reviewed prediction
Add
BLAST
Topological domaini624 – 6307Cytoplasmic Reviewed prediction
Transmembranei631 – 65121Helical; Reviewed prediction
Add
BLAST
Topological domaini652 – 66110Extracellular Reviewed prediction

GO - Cellular componenti

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

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 2
PRO_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.

Family & Domainsi

Domains and Repeats

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

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 116 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

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