LOCUS       NM_146014               1875 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus cerebral cavernous malformation 2 (Ccm2), transcript
            variant 1, mRNA.
ACCESSION   NM_146014 XM_907751
VERSION     NM_146014.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1875)
  AUTHORS   Cici,M., Dilmac,S., Aytac,G. and Tanriover,G.
  TITLE     Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are
            decreased in metastatic lesions in a murine breast carcinoma model
  JOURNAL   Biotech Histochem 99 (2), 76-83 (2024)
   PUBMED   38293758
  REMARK    GeneRIF: Cerebral cavernous malformation proteins, CCM1, CCM2 and
            CCM3, are decreased in metastatic lesions in a murine breast
            carcinoma model.
REFERENCE   2  (bases 1 to 1875)
  AUTHORS   Grdseloff,N., Boulday,G., Rodel,C.J., Otten,C., Vannier,D.R.,
            Cardoso,C., Faurobert,E., Dogra,D., Tournier-Lasserve,E. and
            Abdelilah-Seyfried,S.
  TITLE     Impaired retinoic acid signaling in cerebral cavernous
            malformations
  JOURNAL   Sci Rep 13 (1), 5572 (2023)
   PUBMED   37019926
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1875)
  AUTHORS   Wang,R., Wu,S.T., Yang,X., Qian,Y., Choi,J.P., Gao,R., Song,S.,
            Wang,Y., Zhuang,T., Wong,J.J., Zhang,Y., Han,Z., Lu,H.A.,
            Alexander,S.I., Liu,R., Xia,Y. and Zheng,X.
  TITLE     Pdcd10-Stk24/25 complex controls kidney water reabsorption by
            regulating Aqp2 membrane targeting
  JOURNAL   JCI Insight 6 (12), e142838 (2021)
   PUBMED   34156031
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1875)
  AUTHORS   Hong,C.C., Tang,A.T., Detter,M.R., Choi,J.P., Wang,R., Yang,X.,
            Guerrero,A.A., Wittig,C.F., Hobson,N., Girard,R., Lightle,R.,
            Moore,T., Shenkar,R., Polster,S.P., Goddard,L.M., Ren,A.A.,
            Leu,N.A., Sterling,S., Yang,J., Li,L., Chen,M.,
            Mericko-Ishizuka,P., Dow,L.E., Watanabe,H., Schwaninger,M., Min,W.,
            Marchuk,D.A., Zheng,X., Awad,I.A. and Kahn,M.L.
  TITLE     Cerebral cavernous malformations are driven by ADAMTS5 proteolysis
            of versican
  JOURNAL   J Exp Med 217 (10) (2020)
   PUBMED   32648916
REFERENCE   5  (bases 1 to 1875)
  AUTHORS   Li,J., Zhao,Y., Choi,J., Ting,K.K., Coleman,P., Chen,J.,
            Cogger,V.C., Wan,L., Shi,Z., Moller,T., Zheng,X., Vadas,M.A. and
            Gamble,J.R.
  TITLE     Targeting miR-27a/VE-cadherin interactions rescues cerebral
            cavernous malformations in mice
  JOURNAL   PLoS Biol 18 (6), e3000734 (2020)
   PUBMED   32502201
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1875)
  AUTHORS   Petit,N., Blecon,A., Denier,C. and Tournier-Lasserve,E.
  TITLE     Patterns of expression of the three cerebral cavernous malformation
            (CCM) genes during embryonic and postnatal brain development
  JOURNAL   Gene Expr Patterns 6 (5), 495-503 (2006)
   PUBMED   16455310
REFERENCE   7  (bases 1 to 1875)
  AUTHORS   Plummer,N.W., Squire,T.L., Srinivasan,S., Huang,E.,
            Zawistowski,J.S., Matsunami,H., Hale,L.P. and Marchuk,D.A.
  TITLE     Neuronal expression of the Ccm2 gene in a new mouse model of
            cerebral cavernous malformations
  JOURNAL   Mamm Genome 17 (2), 119-128 (2006)
   PUBMED   16465592
  REMARK    GeneRIF: Ccm2 is expressed in neurons and choroid plexus but not in
            vascular endothelium of small vessels in the brain.
REFERENCE   8  (bases 1 to 1875)
  AUTHORS   Seker,A., Pricola,K.L., Guclu,B., Ozturk,A.K., Louvi,A. and
            Gunel,M.
  TITLE     CCM2 expression parallels that of CCM1
  JOURNAL   Stroke 37 (2), 518-523 (2006)
   PUBMED   16373645
  REMARK    GeneRIF: CCM1 and CCM2 have similar expression patterns during
            development and are involved in the same pathway important for
            central nervous system vascular development
REFERENCE   9  (bases 1 to 1875)
  AUTHORS   Zawistowski,J.S., Stalheim,L., Uhlik,M.T., Abell,A.N.,
            Ancrile,B.B., Johnson,G.L. and Marchuk,D.A.
  TITLE     CCM1 and CCM2 protein interactions in cell signaling: implications
            for cerebral cavernous malformations pathogenesis
  JOURNAL   Hum Mol Genet 14 (17), 2521-2531 (2005)
   PUBMED   16037064
  REMARK    GeneRIF: CCM1 associates with CCM2, indicating that the genetic
            heterogeneity observed in familial cavernous malformation
            pathogenesis may reflect mutation of different molecular members of
            a coordinated signaling complex.
REFERENCE   10 (bases 1 to 1875)
  AUTHORS   Uhlik,M.T., Abell,A.N., Johnson,N.L., Sun,W., Cuevas,B.D.,
            Lobel-Rice,K.E., Horne,E.A., Dell'Acqua,M.L. and Johnson,G.L.
  TITLE     Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during
            hyperosmotic shock
  JOURNAL   Nat Cell Biol 5 (12), 1104-1110 (2003)
   PUBMED   14634666
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL646047.9 and AL603787.8.
            
            On Jun 17, 2010 this sequence version replaced NM_146014.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from genomic sequence
            data to make the sequence consistent with the reference genome
            assembly. The genomic coordinates used for the transcript record
            were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029157.1, AK155145.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               AL646047.9         51857-51999
            144-317             AL646047.9         74934-75107
            318-401             AL646047.9         89490-89573
            402-585             AL646047.9         90004-90187
            586-722             AL603787.8         2849-2985
            723-858             AL603787.8         4170-4305
            859-916             AL603787.8         6484-6541
            917-1055            AL603787.8         7019-7157
            1056-1194           AL603787.8         7565-7703
            1195-1875           AL603787.8         9498-10178
FEATURES             Location/Qualifiers
     source          1..1875
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 4.45 cM"
     gene            1..1875
                     /gene="Ccm2"
                     /note="cerebral cavernous malformation 2"
                     /db_xref="GeneID:216527"
                     /db_xref="MGI:MGI:2384924"
     exon            1..143
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1475
                     /gene="Ccm2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     malcavernin; osmosensing scaffold for MEKK3; cerebral
                     cavernous malformations protein 2 homolog; cerebral
                     cavernous malformation 2 homolog"
                     /codon_start=1
                     /product="cerebral cavernous malformations protein 2
                     homolog isoform 1"
                     /protein_id="NP_666126.1"
                     /db_xref="CCDS:CCDS24422.1"
                     /db_xref="GeneID:216527"
                     /db_xref="MGI:MGI:2384924"
                     /translation="MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHT
                     VVLALPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDKAKRSHQLP
                     GHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQD
                     PGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVIMATESKVAAEELCSLLSQVFQ
                     IVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDMKDSYDADASTFCFPDSGDV
                     GGLPPLPFCMQTSPHSKTVSESELSTSATELLQDYMLTLRTKLSSQEIQQFAALLHEY
                     RNGASIHEFCISLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITD
                     SFGRHRRALSTTSTSTINGNRTTGSPDDRSAPSEGDEWDRMISDISSDIEALGCSMDQ
                     DSA"
     exon            144..317
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            318..401
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            402..585
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            586..722
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            723..858
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            859..916
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1055
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1194
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1875
                     /gene="Ccm2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1849..1854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ccm2"
                     /note="hexamer: AATAAT"
     polyA_site      1858
                     /gene="Ccm2"
                     /note="major polyA site"
ORIGIN      
        1 tgcgggcggg ccggcggcgc ggtgagcgcg ggggtggcgg gcccagagcg agcatgtagc
       61 ggccgctggc agtggggctc ccggggcggg ccgcgggggc cgcacgcggc gacatggagg
      121 aggagggcaa gaagggcaag aagcctggaa ttgtgtcgcc atttaaacga gtattcctaa
      181 aaggtgaaaa gagtagagat aagaaagccc atgagaaggt gacagagagg cgccctctgc
      241 acactgtggt gctggcgtta cctgagcgcg tcgagccaga cagactgctg agcgactata
      301 ttgagaagga ggtgaagtat ttaggtcagt taacatccat tcccggctac ctgaaccctt
      361 ccagtaggac ggaaatcctg catttcatag acaaggcaaa gcggtcccac cagcttcctg
      421 ggcacctgac tcaggagcac gatgctgtgc tcagtctgtc tgcctacaat gtcaagttgg
      481 cctggaggga cggggaggac attatcctca gggtgcccat ccatgatatc gctgctgtct
      541 cctatgtccg agatgatgct gcacacctgg tggtcctgaa gacagcccag gacccaggca
      601 tctctcccag ccagagtctg tgtgcagaaa gttctagagg cctcagcgca ggttccttgt
      661 cagaaagtgc agtggggcca gtagaggcat gttgcctggt catcatggcc acagagagca
      721 aggtcgccgc tgaagagttg tgctccctgc tcagccaggt cttccagatt gtttacacgg
      781 agtccaccat cgactttctg gaccgagcaa tatttgatgg ggcttccaca cctacccacc
      841 acctgtcgct gcacagtgat gactcttcca cgaaagtgga catgaaggac agttacgatg
      901 ctgacgccag caccttctgc ttcccggact ctggggatgt gggaggcctg ccgcccttac
      961 ccttctgcat gcagacatca ccccatagca agactgtcag tgagagcgag ctgagcacca
     1021 gcgccacgga actgctgcag gactacatgc tcacgttacg tacgaagctg tcatcacagg
     1081 agatccagca gttcgcagct ctgctacatg agtaccgcaa tggggcctct atccatgagt
     1141 tttgcatcag cctgcggcag ctctatgggg acagccgcaa gttcctgcta cttggtctca
     1201 gacccttcat acctgagaag gacagtcagc actttgaaaa cttcctggag accattggcg
     1261 tgaaagacgg ccgtggcatc atcactgaca gctttggtag gcatcgtcgt gccctgagta
     1321 ccacctccac atccaccatc aatgggaaca ggaccacagg cagccctgat gaccgctctg
     1381 cgccctcaga gggggatgag tgggaccgca tgatttcaga catcagtagt gatattgaag
     1441 cgctaggctg cagcatggac caggactcag cgtgaaggag cgggacagca cacacttgtc
     1501 tcacacagcc atcccaggcc ttcctgggag gagtgcccag acctgagtgc cagcctttcc
     1561 cagcttggag ctagggaggg gctgaagaga aaggtagctc tggtggccag gtcctctact
     1621 gtgaaggagt ggagagctgc cacaggacat gtgccccaca gggcagaaac ctctgtgcct
     1681 attcctcagg ggctcagcaa tgcctgtagc atatccccac tcggggaggg ccaggggcag
     1741 ctggcagggg agccagtcct gccggcctgg ccctggacag ctgatatttg cacatgactt
     1801 tcctcttcta cttctcagag accttaaaaa caagtttact gcaatgtgaa taatttaatc
     1861 tccagttgtc aagca
//
