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Q8IZK6

- MCLN2_HUMAN

UniProt

Q8IZK6 - MCLN2_HUMAN

Protein

Mucolipin-2

Gene

MCOLN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 2 (22 Jul 2008)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. calcium ion transmembrane transport Source: Reactome
    2. ion transmembrane transport Source: Reactome
    3. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_169333. TRP channels.

    Protein family/group databases

    TCDBi1.A.5.3.3. the polycystin cation channel (pcc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mucolipin-2
    Gene namesi
    Name:MCOLN2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:13357. MCOLN2.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134913691.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 566566Mucolipin-2PRO_0000215365Add
    BLAST

    Proteomic databases

    PaxDbiQ8IZK6.
    PRIDEiQ8IZK6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IZK6.
    BgeeiQ8IZK6.
    CleanExiHS_MCOLN2.
    GenevestigatoriQ8IZK6.

    Organism-specific databases

    HPAiHPA019114.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000359640.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IZK6.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei289 – 30921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei380 – 40021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei420 – 44021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei486 – 50621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG149591.
    HOGENOMiHOG000232158.
    HOVERGENiHBG052430.
    InParanoidiQ8IZK6.
    KOiK04993.
    OMAiRRQIPWK.
    OrthoDBiEOG7V1FQ9.
    PhylomeDBiQ8IZK6.
    TreeFamiTF317783.

    Family and domain databases

    InterProiIPR013122. PKD1_2_channel.
    [Graphical view]
    PfamiPF08016. PKD_channel. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IZK6-1) [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

    MARQPYRFPQ ARIPERGSGV FRLTVRNAMA HRDSEMKEEC LREDLKFYFM    50
    SPCEKYRARR QIPWKLGLQI LKIVMVTTQL VRFGLSNQLV VAFKEDNTVA 100
    FKHLFLKGYS GTDEDDYSCS VYTQEDAYES IFFAINQYHQ LKDITLGTLG 150
    YGENEDNRIG LKVCKQHYKK GTMFPSNETL NIDNDVELDC VQLDLQDLSK 200
    KPPDWKNSSF FRLEFYRLLQ VEISFHLKGI DLQTIHSREL PDCYVFQNTI 250
    IFDNKAHSGK IKIYFDSDAK IEECKDLNIF GSTQKNAQYV LVFDAFVIVI 300
    CLASLILCTR SIVLALRLRK RFLNFFLEKY KRPVCDTDQW EFINGWYVLV 350
    IISDLMTIIG SILKMEIKAK NLTNYDLCSI FLGTSTLLVW VGVIRYLGYF 400
    QAYNVLILTM QASLPKVLRF CACAGMIYLG YTFCGWIVLG PYHDKFENLN 450
    TVAECLFSLV NGDDMFATFA QIQQKSILVW LFSRLYLYSF ISLFIYMILS 500
    LFIALITDSY DTIKKFQQNG FPETDLQEFL KECSSKEEYQ KESSAFLSCI 550
    CCRRRKRSDD HLIPIS 566

    Note: No experimental confirmation available.

    Length:566
    Mass (Da):65,942
    Last modified:July 22, 2008 - v2
    Checksum:i6F017BA416624E63
    GO
    Isoform 2 (identifier: Q8IZK6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-28: Missing.

    Show »
    Length:538
    Mass (Da):62,685
    Checksum:i1BCCB92F8D6C83C4
    GO

    Sequence cautioni

    The sequence BAC04267.1 differs from that shown. Reason: Erroneous termination at position 64. Translated as Trp.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti365 – 3651M → V.
    Corresponds to variant rs17117841 [ dbSNP | Ensembl ].
    VAR_052394
    Natural varianti370 – 3701K → Q.
    Corresponds to variant rs6704203 [ dbSNP | Ensembl ].
    VAR_052395

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2828Missing in isoform 2. 1 PublicationVSP_034642Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY083533 mRNA. Translation: AAM08926.1.
    AL139150 Genomic DNA. Translation: CAI22348.1.
    CH471097 Genomic DNA. Translation: EAW73221.1.
    BC104891 mRNA. Translation: AAI04892.1.
    BC104893 mRNA. Translation: AAI04894.1.
    AK094010 mRNA. Translation: BAC04267.1. Sequence problems.
    CCDSiCCDS30762.1. [Q8IZK6-1]
    RefSeqiNP_694991.2. NM_153259.2. [Q8IZK6-1]
    XP_005270776.1. XM_005270719.1. [Q8IZK6-2]
    XP_006710615.1. XM_006710552.1. [Q8IZK6-2]
    UniGeneiHs.591446.

    Genome annotation databases

    EnsembliENST00000284027; ENSP00000284027; ENSG00000153898. [Q8IZK6-2]
    ENST00000370608; ENSP00000359640; ENSG00000153898. [Q8IZK6-1]
    GeneIDi255231.
    KEGGihsa:255231.
    UCSCiuc001dkm.3. human. [Q8IZK6-1]

    Polymorphism databases

    DMDMi212276802.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY083533 mRNA. Translation: AAM08926.1 .
    AL139150 Genomic DNA. Translation: CAI22348.1 .
    CH471097 Genomic DNA. Translation: EAW73221.1 .
    BC104891 mRNA. Translation: AAI04892.1 .
    BC104893 mRNA. Translation: AAI04894.1 .
    AK094010 mRNA. Translation: BAC04267.1 . Sequence problems.
    CCDSi CCDS30762.1. [Q8IZK6-1 ]
    RefSeqi NP_694991.2. NM_153259.2. [Q8IZK6-1 ]
    XP_005270776.1. XM_005270719.1. [Q8IZK6-2 ]
    XP_006710615.1. XM_006710552.1. [Q8IZK6-2 ]
    UniGenei Hs.591446.

    3D structure databases

    ProteinModelPortali Q8IZK6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000359640.

    Protein family/group databases

    TCDBi 1.A.5.3.3. the polycystin cation channel (pcc) family.

    Polymorphism databases

    DMDMi 212276802.

    Proteomic databases

    PaxDbi Q8IZK6.
    PRIDEi Q8IZK6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000284027 ; ENSP00000284027 ; ENSG00000153898 . [Q8IZK6-2 ]
    ENST00000370608 ; ENSP00000359640 ; ENSG00000153898 . [Q8IZK6-1 ]
    GeneIDi 255231.
    KEGGi hsa:255231.
    UCSCi uc001dkm.3. human. [Q8IZK6-1 ]

    Organism-specific databases

    CTDi 255231.
    GeneCardsi GC01M085391.
    HGNCi HGNC:13357. MCOLN2.
    HPAi HPA019114.
    MIMi 607399. gene.
    neXtProti NX_Q8IZK6.
    PharmGKBi PA134913691.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149591.
    HOGENOMi HOG000232158.
    HOVERGENi HBG052430.
    InParanoidi Q8IZK6.
    KOi K04993.
    OMAi RRQIPWK.
    OrthoDBi EOG7V1FQ9.
    PhylomeDBi Q8IZK6.
    TreeFami TF317783.

    Enzyme and pathway databases

    Reactomei REACT_169333. TRP channels.

    Miscellaneous databases

    GeneWikii MCOLN2.
    GenomeRNAii 255231.
    NextBioi 92523.
    PROi Q8IZK6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IZK6.
    Bgeei Q8IZK6.
    CleanExi HS_MCOLN2.
    Genevestigatori Q8IZK6.

    Family and domain databases

    InterProi IPR013122. PKD1_2_channel.
    [Graphical view ]
    Pfami PF08016. PKD_channel. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice."
      Di Palma F., Belyantseva I.A., Kim H.J., Vogt T.F., Kachar B., Noben-Trauth K.
      Proc. Natl. Acad. Sci. U.S.A. 99:14994-14999(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. 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 1).
    5. "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 1-249 (ISOFORM 1).
      Tissue: Uterus.

    Entry informationi

    Entry nameiMCLN2_HUMAN
    AccessioniPrimary (citable) accession number: Q8IZK6
    Secondary accession number(s): A6NI99
    , Q2M3I6, Q5TAG5, Q8N9R3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: July 22, 2008
    Last modified: October 1, 2014
    This is version 94 of the entry and version 2 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 1
      Human chromosome 1: 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