LOCUS       NM_020223               3176 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens FAM20C golgi associated secretory pathway kinase
            (FAM20C), mRNA.
ACCESSION   NM_020223 XM_098621
VERSION     NM_020223.4
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 3176)
  AUTHORS   Gong,B., Liang,Y., Zhang,Q., Li,H., Xiao,J., Wang,L., Chen,H.,
            Yang,W., Wang,X., Wang,Y. and He,Z.
  TITLE     Epigenetic and transcriptional activation of the secretory kinase
            FAM20C as an oncogene in glioma
  JOURNAL   J Genet Genomics 50 (6), 422-433 (2023)
   PUBMED   36708808
  REMARK    GeneRIF: Epigenetic and transcriptional activation of the secretory
            kinase FAM20C as an oncogene in glioma.
REFERENCE   2  (bases 1 to 3176)
  AUTHORS   Zhang,H., Lu,Y., Kramer,P.R., Benson,M.D., Cheng,Y.L. and Qin,C.
  TITLE     Intracranial calcification in Fam20c-deficient mice recapitulates
            human Raine syndrome
  JOURNAL   Neurosci Lett 802, 137176 (2023)
   PUBMED   36914045
  REMARK    GeneRIF: Intracranial calcification in Fam20c-deficient mice
            recapitulates human Raine syndrome.
REFERENCE   3  (bases 1 to 3176)
  AUTHORS   Zuo,H., Yang,D. and Wan,Y.
  TITLE     Fam20C Regulates Bone Resorption and Breast Cancer Bone Metastasis
            through Osteopontin and BMP4
  JOURNAL   Cancer Res 81 (20), 5242-5254 (2021)
   PUBMED   34433585
  REMARK    GeneRIF: Fam20C Regulates Bone Resorption and Breast Cancer Bone
            Metastasis through Osteopontin and BMP4.
REFERENCE   4  (bases 1 to 3176)
  AUTHORS   Palma-Lara,I., Perez-Ramirez,M., Garcia Alonso-Themann,P.,
            Espinosa-Garcia,A.M., Godinez-Aguilar,R., Bonilla-Delgado,J.,
            Lopez-Ornelas,A., Victoria-Acosta,G., Olguin-Garcia,M.G., Moreno,J.
            and Palacios-Reyes,C.
  TITLE     FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and
            Raine Syndrome Phenotypes
  JOURNAL   Int J Mol Sci 22 (15), 8039 (2021)
   PUBMED   34360805
  REMARK    GeneRIF: FAM20C Overview: Classic and Novel Targets, Pathogenic
            Variants and Raine Syndrome Phenotypes.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3176)
  AUTHORS   Fradin,M., Stoetzel,C., Muller,J., Koob,M., Christmann,D.,
            Debry,C., Kohler,M., Isnard,M., Astruc,D., Desprez,P., Zorres,C.,
            Flori,E., Dollfus,H. and Doray,B.
  TITLE     Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
  JOURNAL   Clin Genet 80 (2), 177-183 (2011)
   PUBMED   20825432
  REMARK    GeneRIF: Osteosclerotic bone dysplasia in siblings with a Fam20C
            mutation
REFERENCE   6  (bases 1 to 3176)
  AUTHORS   Simpson,M.A., Scheuerle,A., Hurst,J., Patton,M.A., Stewart,H. and
            Crosby,A.H.
  TITLE     Mutations in FAM20C also identified in non-lethal osteosclerotic
            bone dysplasia
  JOURNAL   Clin Genet 75 (3), 271-276 (2009)
   PUBMED   19250384
  REMARK    GeneRIF: Mutation of FAM20C does not always lead to the infantile
            lethality previously seen as a prerequisite for Raine syndrome
            diagnosis.
REFERENCE   7  (bases 1 to 3176)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   8  (bases 1 to 3176)
  AUTHORS   Simpson,M.A., Hsu,R., Keir,L.S., Hao,J., Sivapalan,G., Ernst,L.M.,
            Zackai,E.H., Al-Gazali,L.I., Hulskamp,G., Kingston,H.M.,
            Prescott,T.E., Ion,A., Patton,M.A., Murday,V., George,A. and
            Crosby,A.H.
  TITLE     Mutations in FAM20C are associated with lethal osteosclerotic bone
            dysplasia (Raine syndrome), highlighting a crucial molecule in bone
            development
  JOURNAL   Am J Hum Genet 81 (5), 906-912 (2007)
   PUBMED   17924334
  REMARK    GeneRIF: This study defines the causative role of FAM20C in this
            lethal osteosclerotic disorder and its crucial role in normal bone
            development.
REFERENCE   9  (bases 1 to 3176)
  AUTHORS   Hao,J., Narayanan,K., Muni,T., Ramachandran,A. and George,A.
  TITLE     Dentin matrix protein 4, a novel secretory calcium-binding protein
            that modulates odontoblast differentiation
  JOURNAL   J Biol Chem 282 (21), 15357-15365 (2007)
   PUBMED   17369251
REFERENCE   10 (bases 1 to 3176)
  AUTHORS   Nalbant,D., Youn,H., Nalbant,S.I., Sharma,S., Cobos,E., Beale,E.G.,
            Du,Y. and Williams,S.C.
  TITLE     FAM20: an evolutionarily conserved family of secreted proteins
            expressed in hematopoietic cells
  JOURNAL   BMC Genomics 6, 11 (2005)
   PUBMED   15676076
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093627.4, AF533706.1,
            BQ026938.1, BC040074.1 and AA135568.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020223.3.
            
            Summary: This gene encodes a member of the family of secreted
            protein kinases. The encoded protein binds calcium and
            phosphorylates proteins involved in bone mineralization. Mutations
            in this gene are associated with the autosomal recessive disorder
            Raine syndrome. [provided by RefSeq, Apr 2014].
            
            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 :: AB545605.1, BC040074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313766.6/ ENSP00000322323.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-398               AC093627.4         168259-168656
            399-2287            AF533706.1         1-1889
            2288-2706           BQ026938.1         19-437              c
            2707-3149           BC040074.1         2165-2607
            3150-3176           AA135568.1         398-424
FEATURES             Location/Qualifiers
     source          1..3176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..3176
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /note="FAM20C golgi associated secretory pathway kinase"
                     /db_xref="GeneID:56975"
                     /db_xref="HGNC:HGNC:22140"
                     /db_xref="MIM:611061"
     exon            1..1234
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     CDS             630..2384
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /EC_number="2.7.11.1"
                     /note="dentin matrix protein 4; golgi-enriched fraction
                     casein kinase; extracellular serine/threonine protein
                     kinase Fam20C; Golgi casein kinase; family with sequence
                     similarity 20, member C"
                     /codon_start=1
                     /product="extracellular serine/threonine protein kinase
                     FAM20C precursor"
                     /protein_id="NP_064608.2"
                     /db_xref="CCDS:CCDS47522.1"
                     /db_xref="GeneID:56975"
                     /db_xref="HGNC:HGNC:22140"
                     /db_xref="MIM:611061"
                     /translation="MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEP
                     GCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDAGWPNKHTLRILQDFSSDPSSNL
                     SSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
                     LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEA
                     AVDSYPNWLKFHIGINRYELYSRHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTF
                     QNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMV
                     NMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFL
                     PDLSLAKRKTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIF
                     DFLMGNMDRHHYETFEKFGNETFIIHLDNGRGFGKYSHDELSILVPLQQCCRIRKSTY
                     LRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDCVERNGL
                     HSVVDDDLDTEHRAASAR"
     exon            1235..1413
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1492
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1585
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1701
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1882
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1883..1992
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..2074
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            2075..2134
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     exon            2135..3176
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3129..3134
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /note="hexamer: AATAAA"
     polyA_site      3149
                     /gene="FAM20C"
                     /gene_synonym="DMP-4; DMP4; G-CK; GEF-CK; RNS"
                     /note="major polyA site"
ORIGIN      
        1 gagaggctcg gccaggcggg agctgcgctc ggggcggccg ctgcacctgc ccgggacccc
       61 gccggccgct ccccgcgccc accccttccg cccttcgccc cccccttccc cccagccccg
      121 gtctcccggg cgcggcgtga gagcagagcc cggcccggag gagccgcccc ttccccgccc
      181 gcccgcccgg cgcctggaga ggagcgcgct gaggatcggg acgcctgcgg ccgccgccac
      241 cgcccaggcc cgtcgcgccc cggccgggat ggacccacac gcccgatgag ccccgcgccg
      301 gcggctgcga gcgccgagcc tccccctgct gcggccccag ccgccccccg cgcgcccggc
      361 tccgcggacc aggacccctg ggctccccgg ctgagggcgc ggccgctccg gagaggccga
      421 gcggggacgg gcccgagatg gcgcggggac ccagcgctcc ggcggcgggc gccctgcacg
      481 cggcccgggc ccggggacag ccccggagct ggtagccgcc cggcaccgat ggaccttgac
      541 ccgcgaggcg gcgccgcgct cgtgcccagc tgcagctaga ggggcgcgcg ggcagaacgc
      601 gctccaggcc cgggccggcc cgcgcggcca tgaagatgat gctggtgcgc cggttccgcg
      661 tgctcatcct gatggtgttc ctggtggcct gcgcgctgca catcgccctg gacctgctgc
      721 ccaggctgga gcgacgcggc gcgcggccct cgggggagcc cggctgttcg tgcgcgcagc
      781 ccgccgccga ggtggccgcg cccggctggg cccaggttcg gggccgcccc ggggagcccc
      841 cggccgcctc ctccgccgcc ggcgacgcgg gctggcccaa caagcacacg ctccgcatcc
      901 tgcaggactt cagctccgac ccctcctcca acctctcgtc ccactcgctg gagaaactgc
      961 cgcccgcggc cgagccggcc gagcgcgcct tgcgggggcg ggatcccggc gccctaagac
     1021 cccacgaccc cgcgcaccgg ccgctgctgc gagaccccgg cccgcgtcgg tccgagtcgc
     1081 cccccggccc cggcggagac gcctccctcc tggccaggct gttcgagcac ccgctttacc
     1141 gggtggcggt tccgccgctc acggaggagg acgtcctgtt caatgtgaac agcgacacca
     1201 ggctcagccc caaagcggcg gagaacccgg actggccgca tgcgggtgct gaaggtgcag
     1261 aattcctctc ccccggggag gcggccgtgg actcctatcc caactggctc aagttccaca
     1321 ttggtatcaa ccggtacgag ctgtactcca gacacaaccc ggccatcgag gccctgctgc
     1381 acgacctcag ctcccagagg atcaccagcg tggccatgaa gtcggggggc acgcagctga
     1441 agctcatcat gaccttccag aattacgggc aagcgctgtt caaacccatg aaacaaacga
     1501 gggagcagga gacaccccct gacttttttt atttctctga ctacgagagg cacaatgcgg
     1561 agattgctgc cttccacctg gacaggatcc tggacttccg ccgggtccct cccgtggccg
     1621 gcaggatggt caacatgacc aaggagatcc gggacgtcac acgggacaag aagctctgga
     1681 ggaccttctt catctctcca gccaacaaca tctgcttcta cggcgagtgt tcctactact
     1741 gctccacgga gcacgccctg tgcgggaagc cagaccagat cgagggctcg ctggcggcct
     1801 tcctgcccga cctgtccctg gccaagagga agacctggcg gaacccttgg cggcgttcct
     1861 accacaagcg caagaaggcc gagtgggagg tggaccctga ctactgcgag gaggtgaagc
     1921 agacaccgcc ctacgacagc agccaccgca tcctggacgt catggacatg acgatcttcg
     1981 acttcctcat gggaaacatg gaccgtcacc actacgagac ttttgagaag tttgggaatg
     2041 aaacgttcat catccactta gacaatggaa gagggtttgg gaagtattcg cacgacgagc
     2101 tctccatcct ggtgccgcta cagcagtgct gcaggatccg gaagtccacc tacctgcgtc
     2161 tgcagctcct ggccaaggag gagtacaagc tgagcctgct gatggccgag tctctgcggg
     2221 gggaccaggt ggcacccgtg ctgtaccagc cgcacctgga ggccctggac cggcggctcc
     2281 gcgtcgtgct aaaggccgtc cgggactgcg tggagaggaa cgggctccac agcgtggtgg
     2341 atgacgacct ggacactgag cacagagccg cctcggcgag gtagtgtccg ccggccgctg
     2401 cgctgcccgg gacggagaca gaggcgccgg acctcccagc aagcgcatgc gcccgtcgtg
     2461 aattcagtga attcagaggc aggacgggat catccggagt cgggagctgc tgccacagga
     2521 ggcgaggctc cccaggtctc ataggacaca ttttgtcagt gtttgaccag aaaagcttgg
     2581 gaaggaagcg ctgtctgtgc tcacggacag aggcggccgg cgccggaggc attccatcct
     2641 ttctgtaggg aaaggagcct ttatttacta ttttgtattt atatttgatg aataagtata
     2701 taaacagaga cgtgtacaca gatgccaatc acctaccaaa ccaaacacga ggaccgccct
     2761 ccctggttct gggggcccct caaggccaag ctcacccctc aagtgctctc acactcggga
     2821 cctaattcaa gtaaaaaccc tttctccttc ctggggcctc ggctcctgga gggctggagg
     2881 gtctcgtctg aggacgggag gaggctctcg ctggacgtct ggcctgtgcg ctggtggacg
     2941 gatgcctacg tggttttgga ggacccgatg accaggcgtc ctgcgagtcc gcccgctggc
     3001 ctgcagcacc cacctcggac ttggctgtgg acggttggtg caagtgcatc ctgcagggct
     3061 ggctgtgcgc agctgtgggc tgacctttgc agagttttgt ggaatagttt gcaatgtcat
     3121 aaaagtgcaa taaaggtaca gcagatgtgt gtcggcctca cggggcgggt ccctca
//
