LOCUS       NM_001365692            2599 bp    mRNA    linear   PRI 29-OCT-2022
DEFINITION  Homo sapiens CCM2 like scaffold protein (CCM2L), transcript variant
            1, mRNA.
ACCESSION   NM_001365692 XM_011528569
VERSION     NM_001365692.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2599)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2599)
  AUTHORS   Zheng X, Xu C, Smith AO, Stratman AN, Zou Z, Kleaveland B, Yuan L,
            Didiku C, Sen A, Liu X, Skuli N, Zaslavsky A, Chen M, Cheng L,
            Davis GE and Kahn ML.
  TITLE     Dynamic regulation of the cerebral cavernous malformation pathway
            controls vascular stability and growth
  JOURNAL   Dev Cell 23 (2), 342-355 (2012)
   PUBMED   22898778
REFERENCE   3  (bases 1 to 2599)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2599)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031658.11.
            
            On Sep 12, 2018 this sequence version replaced XM_011528569.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968189,
                              SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000452892.3/ ENSP00000392448.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AL031658.11        122784-122830
            48-215              AL031658.11        127250-127417
            216-299             AL031658.11        130146-130229
            300-483             AL031658.11        130325-130508
            484-950             AL031658.11        131289-131755
            951-1086            AL031658.11        135006-135141
            1087-1150           AL031658.11        138202-138265
            1151-1280           AL031658.11        141341-141470
            1281-1419           AL031658.11        142046-142184
            1420-2599           AL031658.11        143347-144526
FEATURES             Location/Qualifiers
     source          1..2599
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..2599
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /note="CCM2 like scaffold protein"
                     /db_xref="GeneID:140706"
                     /db_xref="HGNC:HGNC:16153"
     exon            1..47
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1733
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CCM2-like; cerebral cavernous malformations 2
                     protein-like; cerebral cavernous malformation 2-like; CCM2
                     like scaffolding protein"
                     /codon_start=1
                     /product="cerebral cavernous malformations 2 protein-like
                     isoform 1"
                     /protein_id="NP_001352621.1"
                     /db_xref="CCDS:CCDS93028.1"
                     /db_xref="GeneID:140706"
                     /db_xref="HGNC:HGNC:16153"
                     /translation="MEYEVKKGKKGFVSPIRRLVFPKAGRRAACRSSVSRRPLHSMPL
                     YPPDYLIDPQILLCDYLEKEVKFLGHLTWVTSSLNPSSRDELLQLLDTARQLKELPLK
                     TTAEQDSILSLSARCLLLTWRDNEELILRIPTHEIAAASYLQDDALHLLVLKTGLGVD
                     PVPAGVDASPGGAGRDPGPPGGAPEKRRVGTAERRHTICSLDWRMGWGGGAAEARAGG
                     GGGGSLERQRAGARASGSWERRQTFSGSWERRHGGGGGGGGAGKPGGSWERRQAGSGG
                     GGSWERRHPGPNPLDPQDPSPDAYCNLVILAVANRDAAEESCALICQVFQIIYGDQSI
                     ECVDRAGYHYTSTPERPWLCSRSESCHTDGTYAYDADFSCCSSFNGSQDTFEACYSGT
                     STPSFHGSHCSGSDHSSLGLEQLQDYMVTLRSKLGPLEIQQFAMLLREYRLGLPIQDY
                     CTGLLKLYGDRRKFLLLGMRPFIPDQDIGYFEGFLEGVGIREGGILTDSFGRIKRSMS
                     STSASAVRSYDGAAQRPEAQAFHRLLADITHDIEALAPDDDDDDEDEPRGSRGGSDAA
                     EDNYL"
     exon            48..215
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            216..299
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            300..483
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            484..950
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1086
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1150
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1280
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1419
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..2599
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2572..2577
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /note="hexamer: AATAAA"
     polyA_site      2599
                     /gene="CCM2L"
                     /gene_synonym="C20orf160; dJ310O13.5"
                     /note="major polyA site"
ORIGIN      
        1 agaggggaca tttcaccatg gaatatgaag tcaagaaagg gaagaagggc tttgtatccc
       61 ccatccgaag gctggtgttc cccaaggccg ggcgccgggc agcctgtagg agcagcgtga
      121 gccgccggcc cctgcactcg atgccccttt atccccccga ctacctcatc gacccccaga
      181 ttctgctgtg tgactacctg gagaaagagg tcaagttcct gggccacctt acctgggtga
      241 cttcctcact gaacccctcc agtcgggacg agctcctgca gctgctagac accgccaggc
      301 agctgaagga gctgccgctg aagaccacgg cggagcagga cagcatcctg agcctgtctg
      361 cccgctgcct gctgctcacc tggcgcgaca atgaagagct cattctgcga atccctacgc
      421 acgagatcgc cgccgcctcc tacctgcagg acgacgcgct gcacctgcta gtgctcaaga
      481 ccggtctggg tgtggacccg gtgccggccg gcgtggatgc cagcccaggc ggcgcaggac
      541 gcgaccccgg cccgccaggc ggggcgcccg agaagcggcg ggtgggcacc gcggagcggc
      601 gccacaccat ctgcagcctg gactggcgga tggggtgggg tgggggcgcc gcggaggccc
      661 gggccggggg aggcggcggc ggcagcttgg agcgccagcg cgccggggcg cgggcgtcgg
      721 gcagctggga gcgacggcag acgttcagcg gcagctggga gcggcggcac ggaggcggcg
      781 gcggcggcgg cggcgcggga aagccgggcg gtagctggga gcggaggcag gcgggcagcg
      841 gcgggggagg cagctgggag cggcgccacc ccggccccaa cccgctcgac ccgcaggacc
      901 ccagccccga cgcctactgc aacctggtca tcctggctgt agccaacagg gacgctgcag
      961 aggagtcctg cgcactcatc tgtcaggtct tccagatcat ctacggggac cagagtattg
     1021 agtgtgtgga ccgggctggc taccactaca catccacacc tgaacggcca tggctctgca
     1081 gccgcagtga gagctgccac acagatggga cgtatgccta tgatgccgac ttcagctgct
     1141 gcagctcctt taatggctcc caggacacct ttgaagcatg ttacagcggc acgtccacac
     1201 cttctttcca tggctcccac tgcagcggca gcgaccacag cagtctgggc ttggagcagt
     1261 tacaggatta catggtcacg ttgcggagta agctggggcc cctcgagatc cagcagtttg
     1321 cgatgctgct gcgggagtac cggctggggc tgcccatcca ggactattgc acaggcctgc
     1381 tgaagctcta cggagaccgg cgcaagttcc tcctccttgg gatgcggccc ttcatcccgg
     1441 accaggacat cggctacttc gagggcttcc tggagggcgt gggcatccgc gagggcggca
     1501 tcctcactga cagcttcggc cgcatcaagc gcagcatgag ctccacgtcg gcctccgcag
     1561 tgcgcagcta cgatggcgcg gcgcagcggc ccgaggcaca ggccttccac cggctgctgg
     1621 ctgacatcac gcacgacatc gaggcgctgg cccccgatga cgacgacgac gacgaggatg
     1681 agccccgggg ctccaggggc gggagcgacg ccgcagaaga caactacctg tagccaccgc
     1741 ccctgcggac ggcgtggctc agcagcccac ctctgagtct cagctttgct tcggggaccc
     1801 tatccccagg gcccccccat cacacctggc ggggccgggg ggtcttcact ccagggtctc
     1861 gctccctgcc cttggggccc ggggccatgc agtacctgga gtgtcctgca gggggaaagc
     1921 gaagccgggc cctgaagtcc ggggcagtca cccggggctc ctgggccgct ctgccgggct
     1981 ggggctgagc agcgatcctg ctttgtccca gaagtccaga gggatcagcc ccagaacaca
     2041 ccctcctccc cgggacgccg cagctttctg gaggctgagg aaggcatgaa gagtgggctc
     2101 cacctgctgg ccgactgaga aaagaatttc cagaactcgg tcctatttta cagattgaga
     2161 aactatggtt caagaagaga ggacggggct tgagggaatc tcctgattct ccttatatga
     2221 cctcaaactg accatactaa acagtgtaga aggtcttttt aaggctctaa atgtcagggt
     2281 ctcccatccc ctgatgcctg acttgtacag tcagtgtgga gtagacggtt tcctccaccc
     2341 agggttgact cagggggatg atctgggtcc cattctggtc ttaagacccc aaacaagggt
     2401 tttttcagct ccaggatctg gagcctctat ctggttagtg tcgtaacctc tgtgtgcctc
     2461 ccgttacccc atctgtccag tgagctcagc ccccatccac ctaacagggt ggccacaggg
     2521 attactgagg gttaagacct tagaactggg tctagcaccc gataagagct caataaatgt
     2581 tgttcctttc cacatcaaa
//
