LOCUS       NM_004560               4158 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens receptor tyrosine kinase like orphan receptor 2
            (ROR2), transcript variant 1, mRNA.
ACCESSION   NM_004560
VERSION     NM_004560.4
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 4158)
  AUTHORS   Kamizaki,K., Katsukawa,M., Yamamoto,A., Fukada,S.I., Uezumi,A.,
            Endo,M. and Minami,Y.
  TITLE     Ror2 signaling regulated by differential Wnt proteins determines
            pathological fate of muscle mesenchymal progenitors
  JOURNAL   Cell Death Dis 15 (10), 784 (2024)
   PUBMED   39468010
  REMARK    GeneRIF: Ror2 signaling regulated by differential Wnt proteins
            determines pathological fate of muscle mesenchymal progenitors.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4158)
  AUTHORS   Wang,C., Fu,R., Wang,Y., Wei,J., Yu,Y., Hu,L. and Zhang,C.
  TITLE     miR-124-3p and miR-194-5p regulation of the PI3K/AKT pathway via
            ROR2 in medulloblastoma progression
  JOURNAL   Cancer Gene Ther 31 (6), 941-954 (2024)
   PUBMED   38632356
  REMARK    GeneRIF: miR-124-3p and miR-194-5p regulation of the PI3K/AKT
            pathway via ROR2 in medulloblastoma progression.
REFERENCE   3  (bases 1 to 4158)
  AUTHORS   Griffiths,S.C., Tan,J., Wagner,A., Blazer,L.L., Adams,J.J.,
            Srinivasan,S., Moghisaei,S., Sidhu,S.S., Siebold,C. and Ho,H.H.
  TITLE     Structure and function of the ROR2 cysteine-rich domain in
            vertebrate noncanonical WNT5A signaling
  JOURNAL   Elife 13, e71980 (2024)
   PUBMED   38780011
  REMARK    GeneRIF: Structure and function of the ROR2 cysteine-rich domain in
            vertebrate noncanonical WNT5A signaling.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4158)
  AUTHORS   Ren,H., Zhao,W., Jiang,N. and Li,S.
  TITLE     [Genetic analysis of a Chinese pedigree affected with Brachydactyly
            type B1 due to a novel variant of ROR2 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (5), 561-564 (2024)
   PUBMED   38684301
  REMARK    GeneRIF: [Genetic analysis of a Chinese pedigree affected with
            Brachydactyly type B1 due to a novel variant of ROR2 gene].
REFERENCE   5  (bases 1 to 4158)
  AUTHORS   Kamizaki,K., Minami,Y. and Nishita,M.
  TITLE     Role of the Ror family receptors in Wnt5a signaling
  JOURNAL   In Vitro Cell Dev Biol Anim 60 (5), 489-501 (2024)
   PUBMED   38587578
  REMARK    GeneRIF: Role of the Ror family receptors in Wnt5a signaling.
            Review article
REFERENCE   6  (bases 1 to 4158)
  AUTHORS   Schwabe,G.C., Tinschert,S., Buschow,C., Meinecke,P., Wolff,G.,
            Gillessen-Kaesbach,G., Oldridge,M., Wilkie,A.O., Komec,R. and
            Mundlos,S.
  TITLE     Distinct mutations in the receptor tyrosine kinase gene ROR2 cause
            brachydactyly type B
  JOURNAL   Am J Hum Genet 67 (4), 822-831 (2000)
   PUBMED   10986040
REFERENCE   7  (bases 1 to 4158)
  AUTHORS   van Bokhoven,H., Celli,J., Kayserili,H., van Beusekom,E., Balci,S.,
            Brussel,W., Skovby,F., Kerr,B., Percin,E.F., Akarsu,N. and
            Brunner,H.G.
  TITLE     Mutation of the gene encoding the ROR2 tyrosine kinase causes
            autosomal recessive Robinow syndrome
  JOURNAL   Nat Genet 25 (4), 423-426 (2000)
   PUBMED   10932187
REFERENCE   8  (bases 1 to 4158)
  AUTHORS   Oldridge,M., Temple,I.K., Santos,H.G., Gibbons,R.J., Mustafa,Z.,
            Chapman,K.E., Loughlin,J. and Wilkie,A.O.
  TITLE     Brachydactyly type B: linkage to chromosome 9q22 and evidence for
            genetic heterogeneity
  JOURNAL   Am J Hum Genet 64 (2), 578-585 (1999)
   PUBMED   9973296
REFERENCE   9  (bases 1 to 4158)
  AUTHORS   Bacino,C.A.
  TITLE     ROR2-Related Robinow Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301418
REFERENCE   10 (bases 1 to 4158)
  AUTHORS   Masiakowski,P. and Carroll,R.D.
  TITLE     A novel family of cell surface receptors with tyrosine kinase-like
            domain
  JOURNAL   J Biol Chem 267 (36), 26181-26190 (1992)
   PUBMED   1334494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391219.12, M97639.1,
            BI089313.1 and BQ446244.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004560.3.
            
            Summary: The protein encoded by this gene is a receptor protein
            tyrosine kinase and type I transmembrane protein that belongs to
            the ROR subfamily of cell surface receptors.  The protein may be
            involved in the early formation of the chondrocytes and may be
            required for cartilage and growth plate development.  Mutations in
            this gene can cause brachydactyly type B, a skeletal disorder
            characterized by hypoplasia/aplasia of distal phalanges and nails.
            In addition, mutations in this gene can cause the autosomal
            recessive form of Robinow syndrome, which is characterized by
            skeletal dysplasia with generalized limb bone shortening, segmental
            defects of the spine, brachydactyly, and a dysmorphic facial
            appearance. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: M97639.1, BC126454.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375708.4/ ENSP00000364860.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AL391219.12        32020-32085         c
            67-997              M97639.1           1-931
            998-1305            BI089313.1         292-599
            1306-4092           M97639.1           1240-4026
            4093-4158           BQ446244.1         22-87               c
FEATURES             Location/Qualifiers
     source          1..4158
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     gene            1..4158
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /note="receptor tyrosine kinase like orphan receptor 2"
                     /db_xref="GeneID:4920"
                     /db_xref="HGNC:HGNC:10257"
                     /db_xref="MIM:602337"
     exon            1..362
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             266..3097
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; neurotrophic tyrosine kinase receptor-related
                     2; tyrosine-protein kinase transmembrane receptor ROR2"
                     /codon_start=1
                     /product="tyrosine-protein kinase transmembrane receptor
                     ROR2 isoform 1 precursor"
                     /protein_id="NP_004551.2"
                     /db_xref="CCDS:CCDS6691.1"
                     /db_xref="GeneID:4920"
                     /db_xref="HGNC:HGNC:10257"
                     /db_xref="MIM:602337"
                     /translation="MARGSALPRRPLLCIPAVWAAAALLLSVSRTSGEVEVLDPNDPL
                     GPLDGQDGPIPTLKGYFLNFLEPVNNITIVQGQTAILHCKVAGNPPPNVRWLKNDAPV
                     VQEPRRIIIRKTEYGSRLRIQDLDTTDTGYYQCVATNGMKTITATGVLFVRLGPTHSP
                     NHNFQDDYHEDGFCQPYRGIACARFIGNRTIYVDSLQMQGEIENRITAAFTMIGTSTH
                     LSDQCSQFAIPSFCHFVFPLCDARSRTPKPRELCRDECEVLESDLCRQEYTIARSNPL
                     ILMRLQLPKCEALPMPESPDAANCMRIGIPAERLGRYHQCYNGSGMDYRGTASTTKSG
                     HQCQPWALQHPHSHHLSSTDFPELGGGHAYCRNPGGQMEGPWCFTQNKNVRMELCDVP
                     SCSPRDSSKMGILYILVPSIAIPLVIACLFFLVCMCRNKQKASASTPQRRQLMASPSQ
                     DMEMPLINQHKQAKLKEISLSAVRFMEELGEDRFGKVYKGHLFGPAPGEQTQAVAIKT
                     LKDKAEGPLREEFRHEAMLRARLQHPNVVCLLGVVTKDQPLSMIFSYCSHGDLHEFLV
                     MRSPHSDVGSTDDDRTVKSALEPPDFVHLVAQIAAGMEYLSSHHVVHKDLATRNVLVY
                     DKLNVKISDLGLFREVYAADYYKLLGNSLLPIRWMAPEAIMYGKFSIDSDIWSYGVVL
                     WEVFSYGLQPYCGYSNQDVVEMIRNRQVLPCPDDCPAWVYALMIECWNEFPSRRPRFK
                     DIHSRLRAWGNLSNYNSSAQTSGASNTTQTSSLSTSPVSNVSNARYVGPKQKAPPFPQ
                     PQFIPMKGQIRPMVPPPQLYVPVNGYQPVPAYGAYLPNFYPVQIPMQMAPQQVPPQMV
                     PKPSSHHSGSGSTSTGYVTTAPSNTSMADRAALLSEGADDTQNAPEDGAQSTVQEAEE
                     EEEGSVPETELLGDCDTLQVDEAQVQLEA"
     exon            363..440
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            441..728
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            729..759
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            760..887
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1202
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1448
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1651
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..4158
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4140..4145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /note="hexamer: AATAAA"
     polyA_site      4158
                     /gene="ROR2"
                     /gene_synonym="BDB; BDB1; NTRKR2"
                     /note="major polyA site"
ORIGIN      
        1 ggtccgcccc ccgcgctcgt cctggcggcc ggcgggacgc cccagcccgc gccaaggaac
       61 ctccccagcc agcccttgcc gtggccggag ccgagcggcg catccgggcc ggagaagagg
      121 acgacgacga ggtcctcgaa gtggacccgt ttgcgaagcg ccagggagaa ggaggagcgg
      181 acgcatcgta gaaaggggtg gtggcgcccg accccgcgcc ccggcccgaa gctctgaggg
      241 cttcccggcc cccactgcct gcggcatggc ccggggctcg gcgctcccgc ggcggccgct
      301 gctgtgcatc ccggccgtct gggcggccgc cgcgcttctg ctctcagtgt cccggacttc
      361 aggtgaagtg gaggttctgg atccgaacga ccctttagga ccccttgatg ggcaggacgg
      421 cccgattcca actctgaaag gttactttct gaattttctg gagccagtaa acaatatcac
      481 cattgtccaa ggccagacgg caattctgca ctgcaaggtg gcaggaaacc caccccctaa
      541 cgtgcggtgg ctaaagaatg atgccccggt ggtgcaggag ccgcggcgga tcatcatccg
      601 gaagacagaa tatggttcac gactgcgaat ccaggacctg gacacgacag acactggcta
      661 ctaccagtgc gtggccacca acgggatgaa gaccattacc gccactggcg tcctgtttgt
      721 gcggctgggt ccaacgcaca gcccaaatca taactttcag gatgattacc acgaggatgg
      781 gttctgccag ccttaccggg gaattgcctg tgcacgcttc attggcaacc ggaccattta
      841 tgtggactcg cttcagatgc agggggagat tgaaaaccga atcacagcgg ccttcaccat
      901 gatcggcacg tctacgcacc tgtcggacca gtgctcacag ttcgccatcc catccttctg
      961 ccacttcgtg tttcctctgt gcgacgcgcg ctcccggaca cccaagccgc gtgagctgtg
     1021 ccgcgacgag tgcgaggtgc tggagagcga cctgtgccgc caggagtaca ccatcgcccg
     1081 ctccaacccg ctcatcctca tgcggcttca gctgcccaag tgtgaggcgc tgcccatgcc
     1141 tgagagcccc gacgctgcca actgcatgcg cattggcatc ccagccgaga ggctgggccg
     1201 ctaccatcag tgctataacg gctcaggcat ggattacaga ggaacggcaa gcaccaccaa
     1261 gtcaggccac cagtgccagc cgtgggccct gcagcacccc cacagccacc acctgtccag
     1321 cacagacttc cctgagcttg gaggggggca cgcctactgc cggaaccccg gaggccagat
     1381 ggagggcccc tggtgcttta cgcagaataa aaacgtacgc atggaactgt gtgacgtacc
     1441 ctcgtgtagt ccccgagaca gcagcaagat ggggattctg tacatcttgg tccccagcat
     1501 cgcaattcca ctggtcatcg cttgcctttt cttcttggtt tgcatgtgcc ggaataagca
     1561 gaaggcatct gcgtccacac cgcagcggcg acagctgatg gcctcgccca gccaagacat
     1621 ggaaatgccc ctcattaacc agcacaaaca ggccaaactc aaagagatca gcctgtctgc
     1681 ggtgaggttc atggaggagc tgggagagga ccggtttggg aaagtctaca aaggtcacct
     1741 gttcggccct gccccggggg agcagaccca ggctgtggcc atcaaaacgc tgaaggacaa
     1801 agcggagggg cccctgcggg aggagttccg gcatgaggct atgctgcgag cacggctgca
     1861 acaccccaac gtcgtctgcc tgctgggcgt ggtgaccaag gaccagcccc tgagcatgat
     1921 cttcagctac tgttcgcacg gcgacctcca cgaattcctg gtcatgcgct cgccgcactc
     1981 ggacgtgggc agcaccgatg atgaccgcac ggtgaagtcc gccctggagc cccccgactt
     2041 cgtgcacctt gtggcacaga tcgcggcggg gatggagtac ctatccagcc accacgtggt
     2101 tcacaaggac ctggccaccc gcaatgtgct agtgtacgac aagctgaacg tgaagatctc
     2161 agacttgggc ctcttccgag aggtgtatgc cgccgattac tacaagctgc tggggaactc
     2221 gctgctgcct atccgctgga tggccccaga ggccatcatg tacggcaagt tctccatcga
     2281 ctcagacatc tggtcctacg gtgtggtcct gtgggaggtc ttcagctacg gcctgcagcc
     2341 ctactgcggg tactccaacc aggatgtggt ggagatgatc cggaaccggc aggtgctgcc
     2401 ttgccccgat gactgtcccg cctgggtgta tgccctcatg atcgagtgct ggaacgagtt
     2461 ccccagccgg cggccccgct tcaaggacat ccacagccgg ctccgagcct ggggcaacct
     2521 ttccaactac aacagctcgg cgcagacctc gggggccagc aacaccacgc agaccagctc
     2581 cctgagcacc agcccagtga gcaatgtgag caacgcccgc tacgtggggc ccaagcagaa
     2641 ggccccgccc ttcccacagc cccagttcat ccccatgaag ggccagatca gacccatggt
     2701 gcccccgccg cagctctacg tccccgtcaa cggctaccag ccggtgccgg cctatggggc
     2761 ctacctgccc aacttctacc cggtgcagat cccaatgcag atggccccgc agcaggtgcc
     2821 tcctcagatg gtccccaagc ccagctcaca ccacagtggc agtggctcca ccagcacagg
     2881 ctacgtcacc acggccccct ccaacacatc catggcagac agggcagccc tgctctcaga
     2941 gggcgctgat gacacacaga acgccccaga agatggggcc cagagcaccg tgcaggaagc
     3001 agaggaggag gaggaaggct ctgtcccaga gactgagctg ctgggggact gtgacactct
     3061 gcaggtggac gaggcccaag tccagctgga agcttgagtg gcaccagggc ccggggttcg
     3121 gggatagaag ccccgccgag accccacagg gacctcagtc acctttgaga agacaccata
     3181 ctcagcaatc acaagagccc gccggccagt gggcttgttt gcagactggg tgaggtggag
     3241 ccctgctcct ctctgtcctc tgacacagag agctgccctg cctaggagca cccaagccag
     3301 gcagggggtc tggcagcacg gcgtcctggg gagcaggaca catggtcatc cccagggctg
     3361 tatacattga ttctggtggt agactggtag tgagcagcaa atgcctttca agaaaatagg
     3421 tggcagcttc actccatgtc atatatggag tgaatatttc aaaacgttgg gaataagggc
     3481 ctgcaaaagg cagcgaggag gcacctcggg tcttgaggtt cctgacaacc gatctggtct
     3541 gttggtttga ggatgaaggg gctccatttc tgctgcctcc ctgctgagaa tattctccct
     3601 ttagcagcca aagattcgct ggaacggagg ctgccctctg ctgcctgttg gggtcggaag
     3661 acaaggggct tctgaaatgg gagttcctga gatacaacaa aatgtgtgcc ttcaaagaaa
     3721 ctgacagctt tgtatttggt gaaatggttt taattatact ccatgtgtat tttgcccact
     3781 ttttttggga attcaaggga aagtgtttct tgggtttgga atgttcagag gaagcagtat
     3841 tgtacagaac acggtattgt tatttttgtt aagaatcatg tacagagctt aaatgtaatt
     3901 tatatgtttt taatatgcca ttttcattga agtattttgg tcttaagatg actttagtaa
     3961 tttaactgtt tatgttaccc acgttgggat ccagttggtc ttggtttgct tctctctgta
     4021 ccacgtgcac atgaggtcca ttcattttac agcccctgtt acacacagac ccacaggcag
     4081 ccgtctgtgc cccgcacaca ttgttggtcc tatttgtaaa tcccacaccc ggtgtatcca
     4141 ataaagtgaa acaaagca
//
