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2024-03-29 18:59:15, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_152352               4252 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens family with sequence similarity 210, member A
            (FAM210A), transcript variant 2, mRNA.
ACCESSION   NM_152352
VERSION     NM_152352.3  GI:149408151
KEYWORDS    RefSeq.
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 4252)
  AUTHORS   Estrada,K., Styrkarsdottir,U., Evangelou,E., Hsu,Y.H., Duncan,E.L.,
            Ntzani,E.E., Oei,L., Albagha,O.M., Amin,N., Kemp,J.P., Koller,D.L.,
            Li,G., Liu,C.T., Minster,R.L., Moayyeri,A., Vandenput,L.,
            Willner,D., Xiao,S.M., Yerges-Armstrong,L.M., Zheng,H.F.,
            Alonso,N., Eriksson,J., Kammerer,C.M., Kaptoge,S.K., Leo,P.J.,
            Thorleifsson,G., Wilson,S.G., Wilson,J.F., Aalto,V., Alen,M.,
            Aragaki,A.K., Aspelund,T., Center,J.R., Dailiana,Z., Duggan,D.J.,
            Garcia,M., Garcia-Giralt,N., Giroux,S., Hallmans,G., Hocking,L.J.,
            Husted,L.B., Jameson,K.A., Khusainova,R., Kim,G.S., Kooperberg,C.,
            Koromila,T., Kruk,M., Laaksonen,M., Lacroix,A.Z., Lee,S.H.,
            Leung,P.C., Lewis,J.R., Masi,L., Mencej-Bedrac,S., Nguyen,T.V.,
            Nogues,X., Patel,M.S., Prezelj,J., Rose,L.M., Scollen,S.,
            Siggeirsdottir,K., Smith,A.V., Svensson,O., Trompet,S., Trummer,O.,
            van Schoor,N.M., Woo,J., Zhu,K., Balcells,S., Brandi,M.L.,
            Buckley,B.M., Cheng,S., Christiansen,C., Cooper,C., Dedoussis,G.,
            Ford,I., Frost,M., Goltzman,D., Gonzalez-Macias,J., Kahonen,M.,
            Karlsson,M., Khusnutdinova,E., Koh,J.M., Kollia,P., Langdahl,B.L.,
            Leslie,W.D., Lips,P., Ljunggren,O., Lorenc,R.S., Marc,J.,
            Mellstrom,D., Obermayer-Pietsch,B., Olmos,J.M.,
            Pettersson-Kymmer,U., Reid,D.M., Riancho,J.A., Ridker,P.M.,
            Rousseau,F., Slagboom,P.E., Tang,N.L., Urreizti,R., Van Hul,W.,
            Viikari,J., Zarrabeitia,M.T., Aulchenko,Y.S.,
            Castano-Betancourt,M., Grundberg,E., Herrera,L., Ingvarsson,T.,
            Johannsdottir,H., Kwan,T., Li,R., Luben,R., Medina-Gomez,C.,
            Palsson,S.T., Reppe,S., Rotter,J.I., Sigurdsson,G., van Meurs,J.B.,
            Verlaan,D., Williams,F.M., Wood,A.R., Zhou,Y., Gautvik,K.M.,
            Pastinen,T., Raychaudhuri,S., Cauley,J.A., Chasman,D.I.,
            Clark,G.R., Cummings,S.R., Danoy,P., Dennison,E.M., Eastell,R.,
            Eisman,J.A., Gudnason,V., Hofman,A., Jackson,R.D., Jones,G.,
            Jukema,J.W., Khaw,K.T., Lehtimaki,T., Liu,Y., Lorentzon,M.,
            McCloskey,E., Mitchell,B.D., Nandakumar,K., Nicholson,G.C.,
            Oostra,B.A., Peacock,M., Pols,H.A., Prince,R.L., Raitakari,O.,
            Reid,I.R., Robbins,J., Sambrook,P.N., Sham,P.C., Shuldiner,A.R.,
            Tylavsky,F.A., van Duijn,C.M., Wareham,N.J., Cupples,L.A.,
            Econs,M.J., Evans,D.M., Harris,T.B., Kung,A.W., Psaty,B.M.,
            Reeve,J., Spector,T.D., Streeten,E.A., Zillikens,M.C.,
            Thorsteinsdottir,U., Ohlsson,C., Karasik,D., Richards,J.B.,
            Brown,M.A., Stefansson,K., Uitterlinden,A.G., Ralston,S.H.,
            Ioannidis,J.P., Kiel,D.P. and Rivadeneira,F.
  TITLE     Genome-wide meta-analysis identifies 56 bone mineral density loci
            and reveals 14 loci associated with risk of fracture
  JOURNAL   Nat. Genet. 44 (5), 491-501 (2012)
   PUBMED   22504420
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4252)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS ONE 5 (9), E12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA573992.1, DA895646.1, BU189118.1, AP001010.4 and AA602175.1.
            On Jun 22, 2007 this sequence version replaced gi:116268104.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI757783.1, BI764842.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-151               DA573992.1         1-151
            152-600             DA895646.1         122-570
            601-995             BU189118.1         188-582
            996-4011            AP001010.4         168773-171788       c
            4012-4252           AA602175.1         1-241               c
FEATURES             Location/Qualifiers
     source          1..4252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..4252
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /note="family with sequence similarity 210, member A"
                     /db_xref="GeneID:125228"
                     /db_xref="HGNC:28346"
     exon            1..264
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /inference="alignment:Splign:1.39.8"
     exon            265..765
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    269..271
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /note="upstream in-frame stop codon"
     CDS             293..1111
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /note="uncharacterized protein C18orf19"
                     /codon_start=1
                     /product="protein FAM210A"
                     /protein_id="NP_689565.2"
                     /db_xref="GI:116268105"
                     /db_xref="CCDS:CCDS11866.1"
                     /db_xref="GeneID:125228"
                     /db_xref="HGNC:28346"
                     /translation="
MQWNVPRTVSRLARRTCLEPHNAGLFGHCQNVKGPLLLYNAESKVVLVQGPQKQWLHLSAAQCVAKERRPLDAHPPQPGVLRHKQGKQHVSFRRVFSSSATAQGTPEKKEEPDPLQDKSISLYQRFKKTFRQYGKVLIPVHLITSGVWFGTFYYAALKGVNVVPFLELIGLPDSVVSILKNSQSGNALTAYALFKIATPARYTVTLGGTSVTVKYLRSHGYMSTPPPVKEYLQDRMEETKELITEKMEETKDRLTEKLQETKEKVSFKKKVE
"
     misc_feature    662..922
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /note="Protein of unknown function (DUF1279); Region:
                     DUF1279; pfam06916"
                     /db_xref="CDD:191640"
     misc_feature    698..760
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ND0.2);
                     transmembrane region"
     variation       407
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:35493157"
     variation       619
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34798758"
     exon            766..877
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /inference="alignment:Splign:1.39.8"
     variation       791
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2847146"
     exon            878..4244
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /inference="alignment:Splign:1.39.8"
     variation       988
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:35023957"
     STS             1553..1728
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="RH80402"
                     /db_xref="UniSTS:90298"
     STS             1605..1801
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="STS-T67088"
                     /db_xref="UniSTS:82091"
     STS             1782..1872
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="D18S1228"
                     /db_xref="UniSTS:11696"
     polyA_signal    1895..1900
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
     polyA_site      1925
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
     STS             2253..2442
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="ECD04345"
                     /db_xref="UniSTS:285422"
     STS             2266..3900
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     STS             2266..2452
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     STS             2898..3020
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="RH65191"
                     /db_xref="UniSTS:13038"
     STS             2903..3054
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="SHGC-53804"
                     /db_xref="UniSTS:28526"
     variation       3988
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1047427"
     STS             4084..4212
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
                     /standard_name="SHGC-31363"
                     /db_xref="UniSTS:35822"
     polyA_signal    4220..4225
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
     polyA_site      4244
                     /gene="FAM210A"
                     /gene_synonym="C18orf19; HsT2329"
ORIGIN      
aactacgagtcccgacgtgccgcgcgcggcatgcagaagcttcactgagcgggcactggaggtcgcgagcacgttgctagtgggcgcggctggcggggccgggggcggcagggggctagcgtccggctgagcccggcgggttcctgcacgcggacccacgctttgtcgggctgctctgctgagtgacaccgccgtggcatccgaggagctgtggtccagcctgcgcggcgggaagcggcggcggcggctccagcgtcctaagagaagctgaaacctatcaacactcttcaaaatgcaatggaatgtaccacggactgtatctcgactggcacgcaggacatgcttggaaccacataatgctggtctctttggacactgtcaaaatgtaaagggacctttacttttatacaatgctgaatccaaagtggttttggtacaaggccctcaaaaacaatggttgcatttatctgctgcccagtgtgttgcaaaggaaaggaggccattggatgctcatccaccccaaccaggagtccttcgccataagcaagggaagcaacatgtttcattcaggagggttttttcatccagtgccacagctcagggaactccggaaaaaaaggaagagcctgatcctttgcaagacaaatctattagtctttatcaacgattcaagaagacatttagacagtatggaaaagttctgattccagtgcatctaataacttctggtgtttggtttggaacattttattatgcagccttgaaaggagtgaatgtcgttccttttctagaactcattgggttacctgacagtgtggtaagcatcctgaaaaactcccagagtggaaatgccctcacagcatatgccttgtttaagattgcaacacctgctcggtataccgtgactttgggaggaacatctgtcactgtgaagtatctgcgcagtcatggctacatgtccacgccgccacccgtcaaggagtatctgcaggacaggatggaagagacaaaggagcttatcacagagaaaatggaagaaacaaaagatagactcactgaaaagttacaagaaaccaaagaaaaagtttcctttaagaaaaaagtggaataaggtgccttatatagcagtatagaaaattcctgcactttaaccctttggaaactatgggcaaagatacatgtgtctgattatttttttggttagttgccgaaatatactagttctctgagggttaaagaagtaaaatacctttttaaagttaaatatcactagaaaaatcagtgttattacaagggaagaaatgaacccagtttaagaatttgccatcagtagcagtattaagcagtggttaatgtcttagaagtcagacttctttttcaaggtcttcagaaccacacttgatttctgttttgttgcagctgtaattgacacatactaggcagctgactccttgaatatccagtgtgacccataaaatagtctgttaataccggatcttaatttttatgttattcattaagattttaactatattcagtacgtaatttggagacaaactagcatcatcaaaactgcctgtaaataaggtgtttagtctttctataaaaacagaatagagcagttacctaccagttaaaatatcttatatgaagaaaatagaataaagatccagtcatatatgtaaataagatgtactgattgtacgtaaatgaaaaatggaccctttaaaaattatttttacctgaagcttgtcataatttttttaaagcaaatatatatatggtgatggtacttttcaaagtgtgtattagtggtgatcacctcaaacataaacctctgttgtgaatcatttgtgtccttttcaactgtctttcagaggaaaggtaaaaaatcattaaaccttaaattcattgttaaaatcaaatatttgtcagcagtaactcaagctcatggttctcaagcagaaaaaggtttgggagactaaaaatggagtcaggttttcatggagactgctaactccttggggtagacatgggccttgcctcagcaaaccagtgcaatttcccaatgtcttagtttcagaattcatgctgatttcattatggagtaaagttttaaattgtggctgctgctttttgtcttacattgaagggaaatatccttgtttgagcattctacttgattttttttttttttttttttttttttgagacggagcctccctctctctctcccagactggagtgcaatggtacaatctcggctcactgcatcctctgcctcccaggttcaagtgatcctcccgcctcagctttccaagtagctgggagtataagcgtgtgccaccacactcagctaatttttgtatttttagtggaggtggagtttcaccatgttagccaggctagtctccaactcctgacctcagcctcccgagtagctgggactacaggcgcccaccaccacgcccagctaatttttttgtatttttagtagagatggggtttcaccatcttaacaaagctatcattaaatcatttgcttgtaatgaaattcagccgttgtcagctgtgagcgttgcggggctggtggggtgtgtttgagtatgtaagtgtctatttcctgtgctctaacagtgactatttcagttctaacccttcaattgctaattggatgagggaatggcctcttagattgtccttgttttgacttatctgctaaggcgagagaatgtctgggtttgccacacagtcccgcagggacccctgctctttgccaggatttttatatcaagtacttagtttggccaaatttagagtatagtttaaaggggaaaaaaagtttgtatttgatgagtctaattactatattagaatgctttttaaatgaatatgctgtgattggaatctcttcttgggggccggggagagtgctgagagatgcagctgtgtctctgctctctgcagtcttgggcaggcagcaccgctgtctcctgatacagagggttgaatgcactgcttcacattgatgccacattttcaaatctaaacatgattaacatgttttttaagtatttatcaaataattcacatttttgcaggtttaagtgctgttttttaagatattaaacatgttccttgtttcttttttctttttaaccactggagactatgtgaaaatcttgtgttatatggaatttttctaaaacaatttccttttacttttcatgttgcatattttccagtggggataaattggaggttcttattactaataatcctgaaactaaaatttgcttttcctgcatagacatcttttgttagtccatttgagttttgttgccatccagtttcatgatcatgttgtgttagtctaatagacaatgagttactgcttgaatgatatgaaattctctagtaaaaaatgctctgaagatgtgagaagctctgttgtattacttggcaccaggaatgttacaaaaatgttgttgctagcatattgctaacctagtccttaagtttcagggattcctgtaatatgttgagtttggagtattaatagcaggctaacagaatacagtaccaatatgccaagttaaataattgagaatatatacagtatagtttgctatgtataatagacctcatttcatttacagtacacctcacacttgggattaattcacctataacctctgtgaactgcgagtgctcggcagaagcagccctgtgtcttacatgtctacatttatatttatatttatatttatttttttgagacagagtctcactctgtcacccaggctagagtgcagtggcatgatcatagctcacttgcgtcttgaactcctggctcaagtgatcctcccacctcagcctgctgagtagctgggactacaggtgcacaccaccatgcctggctaaaggcatgtctgcatttatgcgaggtgtgttgaccgggtggggagggagctaggactgagattcgcctgtgtaaaatgcacaaaaagggtttgctaagcaaattgatatttgaaatgaaagatggattaggtgagagacttagtttattcaggaataagagcaaaaccaaccacatcaaaaaatgtatttcactgagacagccttttgtacatacagcagggtgctgtttacagatttcaagaaaggagaaaaagaatgcttatactgagattacctacctcccagtagtgaaaataataaatttatcccttgaaatataaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:125228 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
            GeneID:125228 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
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