Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8N394

- TMTC2_HUMAN

UniProt

Q8N394 - TMTC2_HUMAN

Protein

Transmembrane and TPR repeat-containing protein 2

Gene

TMTC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane and TPR repeat-containing protein 2
    Gene namesi
    Name:TMTC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:25440. TMTC2.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: LIFEdb
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670719.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 836836Transmembrane and TPR repeat-containing protein 2PRO_0000280290Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi221 – 2211N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8N394.
    PaxDbiQ8N394.
    PRIDEiQ8N394.

    PTM databases

    PhosphoSiteiQ8N394.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N394.
    BgeeiQ8N394.
    CleanExiHS_TMTC2.
    GenevestigatoriQ8N394.

    Organism-specific databases

    HPAiHPA026954.
    HPA026955.

    Interactioni

    Protein-protein interaction databases

    BioGridi127753. 2 interactions.
    IntActiQ8N394. 2 interactions.
    MINTiMINT-2810228.
    STRINGi9606.ENSP00000322300.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N394.
    SMRiQ8N394. Positions 491-830.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei85 – 10521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei108 – 12821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei133 – 15321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei163 – 18321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei184 – 20421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei222 – 24120HelicalSequence AnalysisAdd
    BLAST
    Transmembranei313 – 33321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei400 – 42021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei423 – 44321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei450 – 47021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati462 – 49231TPR 1Add
    BLAST
    Repeati493 – 52634TPR 2Add
    BLAST
    Repeati527 – 56034TPR 3Add
    BLAST
    Repeati562 – 59433TPR 4Add
    BLAST
    Repeati606 – 63934TPR 5Add
    BLAST
    Repeati643 – 67634TPR 6Add
    BLAST
    Repeati677 – 71034TPR 7Add
    BLAST
    Repeati712 – 74433TPR 8Add
    BLAST
    Repeati746 – 77833TPR 9Add
    BLAST
    Repeati779 – 81234TPR 10Add
    BLAST

    Sequence similaritiesi

    Belongs to the TMTC family.Curated
    Contains 10 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0457.
    HOGENOMiHOG000010230.
    HOVERGENiHBG054555.
    InParanoidiQ8N394.
    OMAiTENIVIL.
    OrthoDBiEOG7BKCT0.
    PhylomeDBiQ8N394.
    TreeFamiTF328339.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    InterProiIPR013618. DUF1736.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF08409. DUF1736. 1 hit.
    PF07719. TPR_2. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 8 hits.
    [Graphical view]
    PROSITEiPS50005. TPR. 9 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8N394-1 [UniParc]FASTAAdd to Basket

    « Hide

    MIAELVSSAL GLALYLNTLS ADFCYDDSRA IKTNQDLLPE TPWTHIFYND    50
    FWGTLLTHSG SHKSYRPLCT LSFRLNHAIG GLNPWSYHLV NVLLHAAVTG 100
    LFTSFSKILL GDGYWTFMAG LMFASHPIHT EAVAGIVGRA DVGASLFFLL 150
    SLLCYIKHCS TRGYSARTWG WFLGSGLCAG CSMLWKEQGV TVLAVSAVYD 200
    VFVFHRLKIK QILPTIYKRK NLSLFLSISL LIFWGSSLLG ARLYWMGNKP 250
    PSFSNSDNPA ADSDSLLTRT LTFFYLPTKN LWLLLCPDTL SFDWSMDAVP 300
    LLKTVCDWRN LHTVAFYTGL LLLAYYGLKS PSVDRECNGK TVTNGKQNAN 350
    GHSCLSDVEY QNSETKSSFA SKVENGIKND VSQRTQLPST ENIVVLSLSL 400
    LIIPFVPATN LFFYVGFVIA ERVLYIPSMG FCLLITVGAR ALYVKVQKRF 450
    LKSLIFYATA TLIVFYGLKT AIRNGDWQNE EMLYRSGIKV NPAKAWGNLG 500
    NVLKSQSKIS EAESAYRNAL YYRSNMADML YNLGLLLQEN SRFAEALHYY 550
    KLAIGSRPTL ASAYLNTGII LMNQGRTEEA RRTFLKCSEI PDENLKDPHA 600
    HKSSVTSCLY NLGKLYHEQG HYEEALSVYK EAIQKMPRQF APQSLYNMMG 650
    EAYMRLSKLP EAEHWYMESL RSKTDHIPAH LTYGKLLALT GRKSEAEKLF 700
    LKAIELDPTK GNCYMHYGQF LLEEARLIEA AEMAKKAAEL DSTEFDVVFN 750
    AAHMLRQASL NEAAEKYYDL AARLRPNYPA ALMNLGAILH LNGRLQKAEA 800
    NYLRALQLKP DDVITQSNLR KLWNIMEKQG LKTSKT 836
    Length:836
    Mass (Da):94,130
    Last modified:October 1, 2002 - v1
    Checksum:iC61517F1B39B3A28
    GO

    Sequence cautioni

    The sequence BAC11102.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti315 – 3151A → T.
    Corresponds to variant rs1201791 [ dbSNP | Ensembl ].
    VAR_031113
    Natural varianti443 – 4431Y → S.
    Corresponds to variant rs17010106 [ dbSNP | Ensembl ].
    VAR_031114
    Natural varianti741 – 7411D → Y.
    Corresponds to variant rs428398 [ dbSNP | Ensembl ].
    VAR_053852

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074634 mRNA. Translation: BAC11102.1. Different initiation.
    AK315285 mRNA. Translation: BAG37694.1.
    AL834509 mRNA. Translation: CAD39165.1.
    CH471054 Genomic DNA. Translation: EAW97384.1.
    BC093852 mRNA. Translation: AAH93852.1.
    BC093854 mRNA. Translation: AAH93854.1.
    CCDSiCCDS9025.1.
    RefSeqiNP_689801.1. NM_152588.1.
    UniGeneiHs.577775.

    Genome annotation databases

    EnsembliENST00000321196; ENSP00000322300; ENSG00000179104.
    GeneIDi160335.
    KEGGihsa:160335.
    UCSCiuc001szs.1. human.

    Polymorphism databases

    DMDMi74759843.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074634 mRNA. Translation: BAC11102.1 . Different initiation.
    AK315285 mRNA. Translation: BAG37694.1 .
    AL834509 mRNA. Translation: CAD39165.1 .
    CH471054 Genomic DNA. Translation: EAW97384.1 .
    BC093852 mRNA. Translation: AAH93852.1 .
    BC093854 mRNA. Translation: AAH93854.1 .
    CCDSi CCDS9025.1.
    RefSeqi NP_689801.1. NM_152588.1.
    UniGenei Hs.577775.

    3D structure databases

    ProteinModelPortali Q8N394.
    SMRi Q8N394. Positions 491-830.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127753. 2 interactions.
    IntActi Q8N394. 2 interactions.
    MINTi MINT-2810228.
    STRINGi 9606.ENSP00000322300.

    PTM databases

    PhosphoSitei Q8N394.

    Polymorphism databases

    DMDMi 74759843.

    Proteomic databases

    MaxQBi Q8N394.
    PaxDbi Q8N394.
    PRIDEi Q8N394.

    Protocols and materials databases

    DNASUi 160335.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321196 ; ENSP00000322300 ; ENSG00000179104 .
    GeneIDi 160335.
    KEGGi hsa:160335.
    UCSCi uc001szs.1. human.

    Organism-specific databases

    CTDi 160335.
    GeneCardsi GC12P083080.
    HGNCi HGNC:25440. TMTC2.
    HPAi HPA026954.
    HPA026955.
    neXtProti NX_Q8N394.
    PharmGKBi PA142670719.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0457.
    HOGENOMi HOG000010230.
    HOVERGENi HBG054555.
    InParanoidi Q8N394.
    OMAi TENIVIL.
    OrthoDBi EOG7BKCT0.
    PhylomeDBi Q8N394.
    TreeFami TF328339.

    Miscellaneous databases

    ChiTaRSi TMTC2. human.
    GeneWikii TMTC2.
    GenomeRNAii 160335.
    NextBioi 87945.
    PROi Q8N394.

    Gene expression databases

    ArrayExpressi Q8N394.
    Bgeei Q8N394.
    CleanExi HS_TMTC2.
    Genevestigatori Q8N394.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    InterProi IPR013618. DUF1736.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF08409. DUF1736. 1 hit.
    PF07719. TPR_2. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 8 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 9 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Brain and Embryo.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Melanoma.
    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].
      Tissue: Brain.

    Entry informationi

    Entry nameiTMTC2_HUMAN
    AccessioniPrimary (citable) accession number: Q8N394
    Secondary accession number(s): B2RCU7, Q8N2K8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 100 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 12
      Human chromosome 12: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3