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O75069

- TMCC2_HUMAN

UniProt

O75069 - TMCC2_HUMAN

Protein

Transmembrane and coiled-coil domains protein 2

Gene

TMCC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 3 (12 Apr 2005)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane and coiled-coil domains protein 2
    Alternative name(s):
    Cerebral protein 11
    Gene namesi
    Name:TMCC2
    Synonyms:KIAA0481
    ORF Names:hucep-11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:24239. TMCC2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134963344.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 709709Transmembrane and coiled-coil domains protein 2PRO_0000184597Add
    BLAST

    Proteomic databases

    MaxQBiO75069.
    PaxDbiO75069.
    PRIDEiO75069.

    PTM databases

    PhosphoSiteiO75069.

    Expressioni

    Gene expression databases

    ArrayExpressiO75069.
    BgeeiO75069.
    CleanExiHS_TMCC2.
    GenevestigatoriO75069.

    Organism-specific databases

    HPAiHPA014254.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    APOEP026495EBI-726731,EBI-1222467

    Protein-protein interaction databases

    BioGridi115240. 2 interactions.
    IntActiO75069. 4 interactions.
    STRINGi9606.ENSP00000350718.

    Structurei

    3D structure databases

    ProteinModelPortaliO75069.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei649 – 66921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei682 – 70221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili333 – 36836Sequence AnalysisAdd
    BLAST
    Coiled coili514 – 633120Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the TEX28 family.Curated

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG319116.
    HOGENOMiHOG000294160.
    HOVERGENiHBG057342.
    InParanoidiO75069.
    OMAiSKPPDLK.
    OrthoDBiEOG7W6WKN.
    PhylomeDBiO75069.
    TreeFamiTF316292.

    Family and domain databases

    InterProiIPR019394. Predicted_TM_coiled-coil_2.
    [Graphical view]
    PfamiPF10267. Tmemb_cc2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O75069-1) [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

    MKRCRSDELQ QQQGEEDGAG LEDAASHLPG ADLRPGETTG ANSAGGPTSD    50
    AGAAAAPNPG PRSKPPDLKK IQQLSEGSMF GHGLKHLFHS RRRSREREHQ 100
    TSQDSQQHQQ QQGMSDHDSP DEKERSPEMH RVSYAMSLHD LPARPTAFNR 150
    VLQQIRSRPS IKRGASLHSS SGGGSSGSSS RRTKSSSLEP QRGSPHLLRK 200
    APQDSSLAAI LHQHQCRPRS SSTTDTALLL ADGSNVYLLA EEAEGIGDKV 250
    DKGDLVALSL PAGHGDTDGP ISLDVPDGAP DPQRTKAAID HLHQKILKIT 300
    EQIKIEQEAR DDNVAEYLKL ANNADKQQVS RIKQVFEKKN QKSAQTIAQL 350
    HKKLEHYRRR LKEIEQNGPS RQPKDVLRDM QQGLKDVGAN VRAGISGFGG 400
    GVVEGVKGSL SGLSQATHTA VVSKPREFAS LIRNKFGSAD NIAHLKDPLE 450
    DGPPEEAARA LSGSATLVSS PKYGSDDECS SASASSAGAG SNSGAGPGGA 500
    LGSPKSNALY GAPGNLDALL EELREIKEGQ SHLEDSMEDL KTQLQRDYTY 550
    MTQCLQEERY RYERLEEQLN DLTELHQNEM TNLKQELASM EEKVAYQSYE 600
    RARDIQEAVE SCLTRVTKLE LQQQQQQVVQ LEGVENANAR ALLGKFINVI 650
    LALMAVLLVF VSTIANFITP LMKTRLRITS TTLLVLVLFL LWKHWDSLTY 700
    LLEHVLLPS 709
    Length:709
    Mass (Da):77,449
    Last modified:April 12, 2005 - v3
    Checksum:i002993EA6B0E4546
    GO
    Isoform 2 (identifier: O75069-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-78: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:631
    Mass (Da):69,586
    Checksum:iB8F8F066BDBB8AFA
    GO

    Sequence cautioni

    The sequence BAA32326.3 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti226 – 24924TALLL…GIGDK → MNQVVQPLMSRHSACRGSQA HLSW in BAB46924. 1 PublicationCuratedAdd
    BLAST

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7878Missing in isoform 2. 1 PublicationVSP_046245Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB007950 mRNA. Translation: BAA32326.3. Different initiation.
    AK131419 mRNA. Translation: BAD18566.1.
    AK293734 mRNA. Translation: BAH11583.1.
    BC131629 mRNA. Translation: AAI31630.1.
    AC093422 Genomic DNA. No translation available.
    CH471067 Genomic DNA. Translation: EAW91548.1.
    AB001596 mRNA. Translation: BAB46924.1.
    CCDSiCCDS30984.1. [O75069-1]
    CCDS55676.1. [O75069-2]
    RefSeqiNP_001229854.1. NM_001242925.1. [O75069-2]
    NP_055673.2. NM_014858.3. [O75069-1]
    XP_005245741.1. XM_005245684.1. [O75069-2]
    XP_005245742.1. XM_005245685.2. [O75069-2]
    XP_006711757.1. XM_006711694.1. [O75069-2]
    UniGeneiHs.6360.

    Genome annotation databases

    EnsembliENST00000330675; ENSP00000331842; ENSG00000133069.
    ENST00000358024; ENSP00000350718; ENSG00000133069. [O75069-1]
    ENST00000545499; ENSP00000437943; ENSG00000133069. [O75069-2]
    GeneIDi9911.
    KEGGihsa:9911.
    UCSCiuc001hca.3. human. [O75069-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB007950 mRNA. Translation: BAA32326.3 . Different initiation.
    AK131419 mRNA. Translation: BAD18566.1 .
    AK293734 mRNA. Translation: BAH11583.1 .
    BC131629 mRNA. Translation: AAI31630.1 .
    AC093422 Genomic DNA. No translation available.
    CH471067 Genomic DNA. Translation: EAW91548.1 .
    AB001596 mRNA. Translation: BAB46924.1 .
    CCDSi CCDS30984.1. [O75069-1 ]
    CCDS55676.1. [O75069-2 ]
    RefSeqi NP_001229854.1. NM_001242925.1. [O75069-2 ]
    NP_055673.2. NM_014858.3. [O75069-1 ]
    XP_005245741.1. XM_005245684.1. [O75069-2 ]
    XP_005245742.1. XM_005245685.2. [O75069-2 ]
    XP_006711757.1. XM_006711694.1. [O75069-2 ]
    UniGenei Hs.6360.

    3D structure databases

    ProteinModelPortali O75069.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115240. 2 interactions.
    IntActi O75069. 4 interactions.
    STRINGi 9606.ENSP00000350718.

    PTM databases

    PhosphoSitei O75069.

    Proteomic databases

    MaxQBi O75069.
    PaxDbi O75069.
    PRIDEi O75069.

    Protocols and materials databases

    DNASUi 9911.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330675 ; ENSP00000331842 ; ENSG00000133069 .
    ENST00000358024 ; ENSP00000350718 ; ENSG00000133069 . [O75069-1 ]
    ENST00000545499 ; ENSP00000437943 ; ENSG00000133069 . [O75069-2 ]
    GeneIDi 9911.
    KEGGi hsa:9911.
    UCSCi uc001hca.3. human. [O75069-1 ]

    Organism-specific databases

    CTDi 9911.
    GeneCardsi GC01P205197.
    H-InvDB HIX0160023.
    HGNCi HGNC:24239. TMCC2.
    HPAi HPA014254.
    neXtProti NX_O75069.
    PharmGKBi PA134963344.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG319116.
    HOGENOMi HOG000294160.
    HOVERGENi HBG057342.
    InParanoidi O75069.
    OMAi SKPPDLK.
    OrthoDBi EOG7W6WKN.
    PhylomeDBi O75069.
    TreeFami TF316292.

    Miscellaneous databases

    ChiTaRSi TMCC2. human.
    GenomeRNAii 9911.
    NextBioi 37387.
    PROi O75069.

    Gene expression databases

    ArrayExpressi O75069.
    Bgeei O75069.
    CleanExi HS_TMCC2.
    Genevestigatori O75069.

    Family and domain databases

    InterProi IPR019394. Predicted_TM_coiled-coil_2.
    [Graphical view ]
    Pfami PF10267. Tmemb_cc2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
      Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
      DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. Ohara O., Nagase T., Kikuno R.
      Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    4. "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] (ISOFORMS 1 AND 2).
      Tissue: Brain and Cerebellum.
    5. "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].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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).
    8. "Molecular cloning of a gene specifically expressed in human central nervous system."
      Yoshimoto M., Yazaki M., Takayama K., Matsumoto K., Tsuritani K.
      Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 226-709 (ISOFORMS 1/2).
      Tissue: Brain.

    Entry informationi

    Entry nameiTMCC2_HUMAN
    AccessioniPrimary (citable) accession number: O75069
    Secondary accession number(s): A2RRH3, B7Z1P7, Q6ZN09
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: April 12, 2005
    Last modified: October 1, 2014
    This is version 106 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 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3