LOCUS       NM_001243212            1085 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens coiled-coil glutamate rich protein 2 (CCER2), mRNA.
ACCESSION   NM_001243212 XM_001717465 XM_933621 XM_946053
VERSION     NM_001243212.2
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 1085)
  AUTHORS   Mukawa,M., Nariai,T., Onda,H., Yoneyama,T., Aihara,Y., Hirota,K.,
            Kudo,T., Sumita,K., Maehara,T., Kawamata,T., Kasuya,H. and
            Akagawa,H.
  TITLE     Exome Sequencing Identified CCER2 as a Novel Candidate Gene for
            Moyamoya Disease
  JOURNAL   J Stroke Cerebrovasc Dis 26 (1), 150-161 (2017)
   PUBMED   27717682
  REMARK    GeneRIF: the present study identified CCER2 as a novel
            susceptibility gene for MMD. CCER2 shows a brain-specific
            expression pattern, and its product has the structure of secreted
            proteins.
REFERENCE   2  (bases 1 to 1085)
  AUTHORS   Khambata-Ford,S., Liu,Y., Gleason,C., Dickson,M., Altman,R.B.,
            Batzoglou,S. and Myers,R.M.
  TITLE     Identification of promoter regions in the human genome by using a
            retroviral plasmid library-based functional reporter gene assay
  JOURNAL   Genome Res 13 (7), 1765-1774 (2003)
   PUBMED   12805274
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011455.6.
            
            On Sep 23, 2020 this sequence version replaced NM_001243212.1.
            
            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##
            Transcript exon combination :: SRR7410570.654470.1,
                                           SRR18074967.3798825.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000571838.2/ ENSP00000460665.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AC011455.6         65257-65345         c
            90-130              AC011455.6         64971-65011         c
            131-218             AC011455.6         64725-64812         c
            219-739             AC011455.6         63722-64242         c
            740-1085            AC011455.6         62139-62484         c
FEATURES             Location/Qualifiers
     source          1..1085
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1085
                     /gene="CCER2"
                     /note="coiled-coil glutamate rich protein 2"
                     /db_xref="GeneID:643669"
                     /db_xref="HGNC:HGNC:44662"
                     /db_xref="MIM:617634"
     exon            1..89
                     /gene="CCER2"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..829
                     /gene="CCER2"
                     /note="coiled-coil domain-containing glutamate-rich
                     protein 2"
                     /codon_start=1
                     /product="coiled-coil domain-containing glutamate-rich
                     protein 2 precursor"
                     /protein_id="NP_001230141.1"
                     /db_xref="CCDS:CCDS58661.1"
                     /db_xref="GeneID:643669"
                     /db_xref="HGNC:HGNC:44662"
                     /db_xref="MIM:617634"
                     /translation="MPPRGPASELLLLRLLLLGAATAAPLAPRPSKEELTRCLAEVVT
                     EVLTVGQVQRGPCTALLHKELCGTEPHGCASTEEKGLLLGDFKKQEAGKMRSSQEVRD
                     EEEEEVAERTHKSEVQEQAIRMQGHRQLHQEEDEEEEKEERKRGPMETFEDLWQRHLE
                     NGGDLQKRVAEKASDKETAQFQAEEKGVRVLGGDRSLWQGAERGGGERREDLPHHHHH
                     HHQPEAEPRQEKEEASEREEKEVEQLEHLRDELKKVTETLGEQLRREG"
     exon            90..130
                     /gene="CCER2"
                     /inference="alignment:Splign:2.1.0"
     exon            131..218
                     /gene="CCER2"
                     /inference="alignment:Splign:2.1.0"
     exon            219..739
                     /gene="CCER2"
                     /inference="alignment:Splign:2.1.0"
     exon            740..1085
                     /gene="CCER2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1065..1070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCER2"
                     /note="hexamer: AATAAA"
     polyA_site      1085
                     /gene="CCER2"
                     /note="major polyA site"
ORIGIN      
        1 agcgccttgg acccgttgga cgcccaccat gccgccccga gggccagcct ctgagctgct
       61 gctgctgcgg ctgctcctgc tgggggcggc caccgctgct cccttggcac cgagaccctc
      121 caaggaggag ctgacccgct gtctggcaga ggtggtcaca gaggtgctga ccgtgggcca
      181 ggtccagaga ggaccctgca ctgctcttct ccacaaggag ttgtgcggga cagagcccca
      241 cggctgtgcg tccaccgagg agaaaggcct gctgcttggg gatttcaaga agcaggaggc
      301 tgggaagatg aggtccagcc aggaggtgag ggatgaggaa gaggaggagg tagcagagag
      361 gacccacaag tctgaggtcc aggaacaagc catccgcatg caagggcatc gccagctcca
      421 ccaggaggag gacgaggagg aggagaagga ggagaggaag agggggccca tggagacctt
      481 tgaggacctg tggcagcggc atctagagaa tggaggggac ctccagaagc gggtggcaga
      541 gaaggccagt gacaaagaga cggcccagtt ccaggcagag gagaaggggg tgcgggtgct
      601 gggcggggac cgcagcctgt ggcagggggc cgagagaggc ggaggagaga ggcgcgagga
      661 cttgccccac caccaccacc accaccacca gccagaggct gagcccaggc aggagaagga
      721 ggaggcttcg gagagggagg aaaaggaggt ggagcagctg gagcacttga gagacgaact
      781 gaagaaggtg acagagacgc tgggggagca gctcaggagg gagggctgac ccctacctca
      841 gtccctcctt cctcctgaca caccctgtgg cttaggactg ttgaccccga agcctccacc
      901 tcacctagca ccccacgcca cccctaccca aacaggggag gaggcggacg tgccttggaa
      961 ccacacccaa ggaggtgagt ctgagctggg ccgggggctg ggctcagccc tgacacagga
     1021 agcaccccca cacctatgca ctcccactcc aacccttctg agtgaataaa gcacaaagaa
     1081 acgca
//
