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)

Q9NUG4

- CCM2L_HUMAN

UniProt

Q9NUG4 - CCM2L_HUMAN

Protein

Cerebral cavernous malformations 2 protein-like

Gene

CCM2L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 3 (20 Jun 2003)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cerebral cavernous malformations 2 protein-like
    Short name:
    CCM2-like
    Gene namesi
    Name:CCM2L
    Synonyms:C20orf160
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16153. CCM2L.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25702.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 571571Cerebral cavernous malformations 2 protein-likePRO_0000079476Add
    BLAST

    Proteomic databases

    PaxDbiQ9NUG4.
    PRIDEiQ9NUG4.

    PTM databases

    PhosphoSiteiQ9NUG4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NUG4.
    BgeeiQ9NUG4.
    CleanExiHS_C20orf160.
    GenevestigatoriQ9NUG4.

    Organism-specific databases

    HPAiHPA008434.

    Interactioni

    Protein-protein interaction databases

    BioGridi126664. 1 interaction.
    IntActiQ9NUG4. 3 interactions.
    STRINGi9606.ENSP00000262659.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NUG4.
    SMRiQ9NUG4. Positions 62-156, 415-491.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi217 – 2226Poly-Gly
    Compositional biasi252 – 26110Poly-Gly
    Compositional biasi273 – 2786Poly-Gly
    Compositional biasi547 – 5548Poly-Asp

    Sequence similaritiesi

    Belongs to the CCM2 family.Curated

    Phylogenomic databases

    eggNOGiNOG44028.
    HOGENOMiHOG000231916.
    HOVERGENiHBG054451.
    InParanoidiQ9NUG4.
    OMAiRRHTICG.
    OrthoDBiEOG7SFHXM.
    PhylomeDBiQ9NUG4.
    TreeFamiTF328517.

    Family and domain databases

    InterProiIPR026159. Malcavernin.
    [Graphical view]
    PANTHERiPTHR21642. PTHR21642. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NUG4-1) [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

    MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL    50
    IDPQILLCDY LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP 100
    LKTTAEQDSI LSLSARCLLL TWRDNEELIL RIPTHEIAAA SYLQDDALHL 150
    LVLKTGLGVD PVPAGVDASP GGAGRDPGPP GGAPEKRRVG TAERRHTICS 200
    LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR QTFSGSWERR 250
    HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY 300
    CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER 350
    PWLCSRSESC HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS 400
    HCSGSDHSSL GLEQLQDYMV TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY 450
    CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY FEGFLEGVGI REGGILTDSF 500
    GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD IEALAPDDDD 550
    DDEDEPRGSR GGSDAAEDNY L 571
    Length:571
    Mass (Da):62,179
    Last modified:June 20, 2003 - v3
    Checksum:i369302A71BD00491
    GO
    Isoform 2 (identifier: Q9NUG4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         357-571: SESCHTDGTY...GSDAAEDNYL → IMAPRTPLKH...CPSRTIAQAC

    Note: No experimental confirmation available.

    Show »
    Length:433
    Mass (Da):46,728
    Checksum:iC29411F6849B3BC8
    GO
    Isoform 3 (identifier: Q9NUG4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         215-235: RAGGGGGGSLERQRAGARASG → PTRSTRRTPAPTPTATWSSWL
         236-571: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:235
    Mass (Da):25,908
    Checksum:iA1F3EF1377553E8D
    GO

    Sequence cautioni

    The sequence AAH32455.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei215 – 23521RAGGG…ARASG → PTRSTRRTPAPTPTATWSSW L in isoform 3. 1 PublicationVSP_007634Add
    BLAST
    Alternative sequencei236 – 571336Missing in isoform 3. 1 PublicationVSP_007635Add
    BLAST
    Alternative sequencei357 – 571215SESCH…EDNYL → IMAPRTPLKHVTAARPHLLS MAPTAAAATTAVWAWSSYRI TWSRCGVSWGPSRSSSLRCC CGSTGWGCPSRTIAQAC in isoform 2. 1 PublicationVSP_007633Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057090 mRNA. Translation: BAB71363.1.
    AL031658 Genomic DNA. Translation: CAI42581.1.
    BC030254 mRNA. Translation: AAH30254.1.
    BC032455 mRNA. Translation: AAH32455.1. Different initiation.
    CCDSiCCDS13195.1. [Q9NUG4-2]
    RefSeqiNP_542192.2. NM_080625.3. [Q9NUG4-2]
    XP_006723769.1. XM_006723706.1. [Q9NUG4-2]
    UniGeneiHs.382151.
    Hs.638682.

    Genome annotation databases

    EnsembliENST00000262659; ENSP00000262659; ENSG00000101331. [Q9NUG4-2]
    GeneIDi140706.
    KEGGihsa:140706.
    UCSCiuc002wxf.2. human. [Q9NUG4-2]

    Polymorphism databases

    DMDMi32171369.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057090 mRNA. Translation: BAB71363.1 .
    AL031658 Genomic DNA. Translation: CAI42581.1 .
    BC030254 mRNA. Translation: AAH30254.1 .
    BC032455 mRNA. Translation: AAH32455.1 . Different initiation.
    CCDSi CCDS13195.1. [Q9NUG4-2 ]
    RefSeqi NP_542192.2. NM_080625.3. [Q9NUG4-2 ]
    XP_006723769.1. XM_006723706.1. [Q9NUG4-2 ]
    UniGenei Hs.382151.
    Hs.638682.

    3D structure databases

    ProteinModelPortali Q9NUG4.
    SMRi Q9NUG4. Positions 62-156, 415-491.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126664. 1 interaction.
    IntActi Q9NUG4. 3 interactions.
    STRINGi 9606.ENSP00000262659.

    PTM databases

    PhosphoSitei Q9NUG4.

    Polymorphism databases

    DMDMi 32171369.

    Proteomic databases

    PaxDbi Q9NUG4.
    PRIDEi Q9NUG4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262659 ; ENSP00000262659 ; ENSG00000101331 . [Q9NUG4-2 ]
    GeneIDi 140706.
    KEGGi hsa:140706.
    UCSCi uc002wxf.2. human. [Q9NUG4-2 ]

    Organism-specific databases

    CTDi 140706.
    GeneCardsi GC20P030601.
    HGNCi HGNC:16153. CCM2L.
    HPAi HPA008434.
    neXtProti NX_Q9NUG4.
    PharmGKBi PA25702.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44028.
    HOGENOMi HOG000231916.
    HOVERGENi HBG054451.
    InParanoidi Q9NUG4.
    OMAi RRHTICG.
    OrthoDBi EOG7SFHXM.
    PhylomeDBi Q9NUG4.
    TreeFami TF328517.

    Miscellaneous databases

    GenomeRNAii 140706.
    NextBioi 84275.

    Gene expression databases

    ArrayExpressi Q9NUG4.
    Bgeei Q9NUG4.
    CleanExi HS_C20orf160.
    Genevestigatori Q9NUG4.

    Family and domain databases

    InterProi IPR026159. Malcavernin.
    [Graphical view ]
    PANTHERi PTHR21642. PTHR21642. 1 hit.
    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] (ISOFORM 3).
      Tissue: Small intestine.
    2. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [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).

    Entry informationi

    Entry nameiCCM2L_HUMAN
    AccessioniPrimary (citable) accession number: Q9NUG4
    Secondary accession number(s): Q5JYR9
    , Q8N5F1, Q8N6G8, Q96MD5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2003
    Last sequence update: June 20, 2003
    Last modified: October 1, 2014
    This is version 94 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 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3