LOCUS       NM_145920               4111 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Mus musculus EvC ciliary complex subunit 2 (Evc2), mRNA.
ACCESSION   NM_145920
VERSION     NM_145920.3
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 4111)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4111)
  AUTHORS   Gokhman,D., Agoglia,R.M., Kinnebrew,M., Gordon,W., Sun,D.,
            Bajpai,V.K., Naqvi,S., Chen,C., Chan,A., Chen,C., Petrov,D.A.,
            Ahituv,N., Zhang,H., Mishina,Y., Wysocka,J., Rohatgi,R. and
            Fraser,H.B.
  TITLE     Human-chimpanzee fused cells reveal cis-regulatory divergence
            underlying skeletal evolution
  JOURNAL   Nat Genet 53 (4), 467-476 (2021)
   PUBMED   33731941
  REMARK    GeneRIF: Human-chimpanzee fused cells reveal cis-regulatory
            divergence underlying skeletal evolution.
            Erratum:[Nat Genet. 2021 Apr;53(4):587. doi:
            10.1038/s41588-021-00849-4.. PMID: 33762754]
REFERENCE   3  (bases 1 to 4111)
  AUTHORS   Kulkarni,A.K., Louie,K.W., Yatabe,M., Ruellas,A.C.O., Mochida,Y.,
            Cevidanes,L.H.S., Mishina,Y. and Zhang,H.
  TITLE     A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull
            Base for Mid-Facial Development
  JOURNAL   Front Physiol 9, 1484 (2018)
   PUBMED   30410447
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4111)
  AUTHORS   Kwon,E.K., Louie,K., Kulkarni,A., Yatabe,M., Ruellas,A.C.O.,
            Snider,T.N., Mochida,Y., Cevidanes,L.H.S., Mishina,Y. and Zhang,H.
  TITLE     The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone
            Development
  JOURNAL   Anat Rec (Hoboken) 301 (1), 46-55 (2018)
   PUBMED   28950429
  REMARK    GeneRIF: By comparing neural crest-specific Evc2 mutants with
            control mice, study demonstrated that the abnormalities within the
            mid-facial regions are not accounted for by the Evc2 mutation
            within these regions.
REFERENCE   5  (bases 1 to 4111)
  AUTHORS   Zhang,H., Takeda,H., Tsuji,T., Kamiya,N., Kunieda,T., Mochida,Y.
            and Mishina,Y.
  TITLE     Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic
            Enamel
  JOURNAL   J Dent Res 96 (4), 421-429 (2017)
   PUBMED   28081373
  REMARK    GeneRIF: Mutations in Evc2 affect dental mesenchymal stem cell
            homeostasis, which further leads to hypomorphic enamel formation in
            mice.
REFERENCE   6  (bases 1 to 4111)
  AUTHORS   Ishikawa,H., Thompson,J., Yates,J.R. 3rd and Marshall,W.F.
  TITLE     Proteomic analysis of mammalian primary cilia
  JOURNAL   Curr Biol 22 (5), 414-419 (2012)
   PUBMED   22326026
REFERENCE   7  (bases 1 to 4111)
  AUTHORS   Blair,H.J., Tompson,S., Liu,Y.N., Campbell,J., MacArthur,K.,
            Ponting,C.P., Ruiz-Perez,V.L. and Goodship,J.A.
  TITLE     Evc2 is a positive modulator of Hedgehog signalling that interacts
            with Evc at the cilia membrane and is also found in the nucleus
  JOURNAL   BMC Biol 9, 14 (2011)
   PUBMED   21356043
  REMARK    GeneRIF: We demonstrate for the first time that Evc2 is a positive
            regulator of the Hh signalling pathway and that it is located at
            the basal body of primary cilia. Evc2 is present in the cell
            nucleus suggesting movement of Evc2 between the cilium and nucleus.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4111)
  AUTHORS   Valencia,M., Lapunzina,P., Lim,D., Zannolli,R., Bartholdi,D.,
            Wollnik,B., Al-Ajlouni,O., Eid,S.S., Cox,H., Buoni,S., Hayek,J.,
            Martinez-Frias,M.L., Antonio,P.A., Temtamy,S., Aglan,M.,
            Goodship,J.A. and Ruiz-Perez,V.L.
  TITLE     Widening the mutation spectrum of EVC and EVC2: ectopic expression
            of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog
            signaling
  JOURNAL   Hum Mutat 30 (12), 1667-1675 (2009)
   PUBMED   19810119
  REMARK    GeneRIF: The expression of a Weyer variant, but not the expression
            of a truncated protein that mimics an Ellis-van Creveld syndrome
            mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in
            keeping with its dominant effect.
REFERENCE   9  (bases 1 to 4111)
  AUTHORS   Sund,K.L., Roelker,S., Ramachandran,V., Durbin,L. and Benson,D.W.
  TITLE     Analysis of Ellis van Creveld syndrome gene products: implications
            for cardiovascular development and disease
  JOURNAL   Hum Mol Genet 18 (10), 1813-1824 (2009)
   PUBMED   19251731
  REMARK    GeneRIF: EVC and LBN protein colocalize at the tip of the primary
            atrial septum during murine cardiac development.
REFERENCE   10 (bases 1 to 4111)
  AUTHORS   Takeda,H., Takami,M., Oguni,T., Tsuji,T., Yoneda,K., Sato,H.,
            Ihara,N., Itoh,T., Kata,S.R., Mishina,Y., Womack,J.E., Moritomo,Y.,
            Sugimoto,Y. and Kunieda,T.
  TITLE     Positional cloning of the gene LIMBIN responsible for bovine
            chondrodysplastic dwarfism
  JOURNAL   Proc Natl Acad Sci U S A 99 (16), 10549-10554 (2002)
   PUBMED   12136126
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY270131.1, AB083066.1 and AW548747.2.
            
            On Aug 15, 2009 this sequence version replaced NM_145920.2.
            
            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 :: BC064473.1, SRR1660817.180071.1
                                           [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
            1-70                BY270131.1         1-70
            71-3733             AB083066.1         1-3663
            3734-4111           AW548747.2         1-378               c
FEATURES             Location/Qualifiers
     source          1..4111
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 20.15 cM"
     gene            1..4111
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /note="EvC ciliary complex subunit 2"
                     /db_xref="GeneID:68525"
                     /db_xref="MGI:MGI:1915775"
     exon            1..250
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..3733
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /note="Ellis van Creveld syndrome 2 homolog"
                     /codon_start=1
                     /product="limbin precursor"
                     /protein_id="NP_666032.1"
                     /db_xref="CCDS:CCDS19248.1"
                     /db_xref="GeneID:68525"
                     /db_xref="MGI:MGI:1915775"
                     /translation="MGATGPTGAGGRATWVLAGNILAAALVLGSGPRALPPSFPALGP
                     GSPSRPGPAGPWASSQYSDISREARGPFENGVIFQKCSLVSGQSESQTMHVQLSVNNT
                     RTPTSVNLSNLLVLDEITGLAVKESPGNNTQDGIQTFRKSFLQVGECYSVSYTASLDP
                     TALGTGESLDLPARLIFQSPSQNRTQLKAPFTITVEEKIMVLPNHGLHAAGFIAAFLI
                     SLLLTVAALFFLARGRCLQGGMLSRCRIQHPENKLEPSPFTSANGVSQDLSLNDQVVA
                     ILTSEEPGSMLQALEELEIATLNQADADLEACRNQISKDIIALLMKNLVSGGHLSPQT
                     ERKMAAAFKKQFLLLENEIQEEYERKMLALTAECDLEMRKKTENQYQREMVAMEEAEE
                     VLKRVSERSAAECSSLLRTLHGLEQEDMQRSLTLDQAEDFAQAHRQLAVFQRNELHSI
                     VYTQIQSAVSKGELRPEVAKMMLQDYSKTQESVEELMDFFQATKRYHLSKRFGHREYL
                     VQRLQAMETRVQGLLNTAATQLTSLIHKHERAGYLDEDQMETLLERAQTETFSIKQKL
                     DNDLKQEKKRLHQRLITRRRRELLQKHKEQQKEQVSLGEASSTAEDAVQYLHQWRSVM
                     AEHTAALEELQERLDQAALDDLRVLTVSLSEKATEELRRLQSTAMTQELLKRSAPWLF
                     LQQILEEHSRESAARTTQLEAEERERGQELVQGVRQRLQQDALEAYTEEQAELRHWEH
                     LVFMKLCCAAISLSEEDLLRVRQEAQGCFSQLDRSLALPRVRARVLQQQAQMAWREAE
                     FRKLDQALAAPELQSKARKLRSKGRGKADLLKKNLEDKIRLFEERAPVELADQVRGEL
                     LQERVQRLEAQEAHFAESLVALQFQKVARAAETLSVYTALLSIQDLLLGELSESETLT
                     KSACVQILESHRPELQELQELERKLEDQLVQQEEAEQQRVLESWQRWAADGPGLSEPE
                     EMDPERQVSAILRQALNKGQKLLEQHQQRVREEWQNGAVLEDSLESIEADTMASLCSQ
                     GLRLVSYLSRMTMVPGSTLLRLLSVVLPAASQPQLLALLDAVSEKHSDHTAENESSGE
                     QAQAEQSKRRKHQVWWKVLDSRFRADLVSQGLERMLWARQKKERILKKIYVPVQERVM
                     FPGKGSWPHLSLEPIGELAPIPITGADAMDILNTGEKIFVFRSPREPEISLRVPPRRK
                     KNFLNAKKANRALGLD"
     exon            251..319
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            320..506
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            507..616
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            617..670
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            671..805
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            806..945
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1270
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1510
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1686
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            1687..1846
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            1847..2301
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2506
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            2507..2623
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            2624..2851
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            2852..3072
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            3073..3160
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            3161..3363
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            3364..3465
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
     exon            3466..4111
                     /gene="Evc2"
                     /gene_synonym="1110017L09Rik; Lbn; limbin"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggcgggggcg gtcccggggt ccggaagctc cgcgactctg cggggcctgt gtggggtctg
       61 tagccaccag atgggggcga cgggccccac gggcgctggg ggacgagcca cgtgggtgct
      121 ggctgggaat atcctggccg ctgccctggt actgggctcg ggtccgcgtg cacttccacc
      181 atccttccct gccctgggcc cagggtcacc atctcggccc ggcccagcag gaccctgggc
      241 aagctcgcag tacagcgata tttcaagaga agcccgaggt ccctttgaga atggagtgat
      301 atttcaaaaa tgctcactgg tgtctgggca gagcgaatcg cagaccatgc acgtgcagct
      361 gtccgtgaac aacaccagga cgcccacatc agtcaacctt tcgaacctgc tcgtgctaga
      421 tgagatcact ggccttgctg tgaaggagtc gcctggaaat aatactcagg atggaatcca
      481 gactttcaga aagagctttc tgcaagtggg agaatgctac tctgtcagct acacagcctc
      541 gctggacccc acagcccttg ggactgggga gagcctggat cttcctgccc ggctcatctt
      601 tcagagcccc tcacagaaca gaactcagct aaaagccccc tttaccatca cagtggaaga
      661 aaagataatg gttcttccta accatggtct tcacgcagca ggcttcatcg cagccttcct
      721 catctccctc ctcctgaccg tggcagccct gttcttcttg gcgaggggtc gatgtctgca
      781 gggaggcatg ctgtccagat gccggattca gcatcctgag aacaagctgg agccctcgcc
      841 cttcacctct gctaacggtg tgagccagga cctttccctc aatgaccaag tggttgccat
      901 cctgacttct gaggagcctg ggagcatgct tcaagcccta gaagagttgg agatcgcaac
      961 cctgaatcag gcagatgcgg atctggaggc ttgtcgaaac cagattagta aggacatcat
     1021 tgcccttttg atgaagaatc tggtcagcgg tggtcacctc tctccgcaaa cagaaaggaa
     1081 gatggccgct gctttcaaaa agcagtttct gctgttggaa aatgaaatac aggaggagta
     1141 tgagcggaag atgttggcac tgacggcaga gtgtgaccta gagatgagga agaagacaga
     1201 aaaccagtac cagagggaga tggtggccat ggaggaagca gaagaggtgt tgaagagagt
     1261 tagcgagagg tctgctgccg agtgcagcag ccttttgcgg accctccatg ggctggagca
     1321 ggaggacatg cagaggtccc ttactctgga ccaagccgag gactttgctc aagcacacag
     1381 gcagctggct gttttccaga ggaatgaatt acacagcatc gtctataccc agatacagag
     1441 tgctgtctcc aaaggggaac tgaggcctga ggtggctaaa atgatgctgc aagactactc
     1501 taaaacacag gagagtgtag aagagctgat ggacttcttc caggccacca agcgatacca
     1561 tctcagcaag aggtttggcc acagagagta cctggtccag agactgcagg ccatggagac
     1621 ccgggtgcaa gggctgctga acaccgcggc tacccagcta acaagcctca tccataaaca
     1681 tgagagggct ggctacttgg atgaagatca gatggaaacg ctattggagc gtgcacagac
     1741 agaaaccttt tctataaaac agaagctgga caatgactta aagcaggaaa agaaaaggct
     1801 ccaccagaga ttaataacca ggaggcggcg agagcttctg cagaagcaca aggagcagca
     1861 gaaggagcag gtgtcccttg gcgaggcctc cagcaccgcg gaggacgcag tccagtacct
     1921 gcaccagtgg aggagcgtga tggccgagca caccgctgcc ctggaggagc tgcaggaacg
     1981 tctggaccag gctgccctgg atgacctccg ggtcctgact gtgtcgctgt cggagaaagc
     2041 cacggaagag ctgaggcgcc tgcagagcac ggccatgaca caggagctgc tgaagcgcag
     2101 tgctccctgg ctcttcctgc agcagatctt agaggagcac agccgggagt ctgcggctcg
     2161 caccacgcaa ctggaggcag aggagaggga acgtggccag gagctggtgc agggcgtgag
     2221 gcagaggcta cagcaggatg cactggaggc ctacacggaa gagcaggcag agctgaggca
     2281 ctgggagcac ttggtgttca tgaaactctg ctgtgcggcc atctcattgt ctgaagaaga
     2341 cctgctccgg gtaaggcagg aggcacaggg ctgcttcagc cagctggacc ggagcttggc
     2401 cctccccaga gtccgtgcac gagtgttgca gcagcaggcg cagatggcct ggcgggaagc
     2461 agagtttcgg aaactggacc aggccctggc tgcgcctgag ctgcagtcca aggcaagaaa
     2521 gctgcgttcc aagggcagag gcaaggccga tcttctgaag aagaacctgg aggataagat
     2581 ccgactattc gaggagcggg cccctgtaga actggctgac caggtgcgag gggaattgct
     2641 ccaagagagg gtccagaggc tggaggccca ggaggcgcac tttgctgagt cacttgtggc
     2701 tctgcagttc cagaaggtgg cccgggctgc tgagaccctc tcagtctaca ccgccctgct
     2761 cagcattcaa gacctgctgc tgggggagct gagtgagtcg gagaccctga ccaagtcagc
     2821 ctgtgtgcag atcctggagt cccacaggcc ggagctgcag gagctgcagg agctggagag
     2881 gaagctggag gaccagctgg tgcagcagga agaggccgag cagcagcggg tcctggagag
     2941 ctggcagcgg tgggcggccg atggacctgg gctgagcgaa cctgaggaga tggatcctga
     3001 aaggcaggtc tctgccatcc tgcggcaagc cctgaacaag ggccagaagc tgctggagca
     3061 gcatcagcag agggtgagag aggagtggca gaacggtgcg gtgctggaag attctctgga
     3121 aagcattgaa gctgacacca tggccagcct ttgcagccag ggactgaggc tggtgtcata
     3181 cctctcaagg atgacaatgg taccaggcag cacactactg cgactcctga gtgtggtgct
     3241 tccagcggct tcacagcctc agctactggc cctgctggac gcagtcagtg agaagcactc
     3301 cgaccacaca gctgagaatg agagcagtgg tgagcaggct caggcagagc agagcaagag
     3361 gaggaaacac caagtttggt ggaaggtttt ggacagcaga ttcagagcag atctggtgag
     3421 tcaaggactg gagaggatgc tctgggcccg ccagaagaag gagcgcatat tgaagaagat
     3481 atatgttccc gtccaggaga gggtgatgtt tcctgggaaa ggaagctggc cacacctgtc
     3541 cctagaaccc attggagaac tggctcccat ccccatcact ggggcagacg ctatggacat
     3601 attaaacacg ggagaaaaga tctttgtatt cagaagccca agggagcccg agatctcttt
     3661 gcgtgttcct cccaggagga aaaagaattt cctgaatgcc aagaaggcca acagggcctt
     3721 gggcttggac tgacccaggg ggaagcacca ggggctgtct caagacaggt gcatctttcc
     3781 tccagcccac gtgggttggt ctgtccgtct atatcataca gcttgcagta tacatatgct
     3841 tgcagccttg acacagtgcc acgcaagttg gccctccggt gttcaggtcc agtctctttt
     3901 gtgccacagg acacaaacat accttccttc taagtccgta ttaccatgat ctagagggaa
     3961 cccaccttac cccaccttcc tcacacagac cactggctgt ggctgggatg ggtccccacc
     4021 ccacccagtt tatgtgagga aggtgcagct ctctattctt acaatgtgtg ttacatgctc
     4081 tgtttttcca taaagggaac tttaaaaatg t
//
