GGRNA | NM_001193304.2

LOCUS       NM_001193304            4570 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens transmembrane protein 127 (TMEM127), transcript
            variant 2, mRNA.
ACCESSION   NM_001193304
VERSION     NM_001193304.2  GI:305682551
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 4570)
  AUTHORS   Takeichi,N., Midorikawa,S., Watanabe,A., Naing,B.T., Tamura,H.,
            Wakakuri-Kano,T., Ishizaki,A., Sugihara,H., Nissato,S., Saito,Y.,
            Aita,Y., Ishii,K.A., Igarashi,T., Kawakami,Y., Hara,H., Ikeda,T.,
            Shimizu,K., Suzuki,S., Shimano,H., Kawamoto,M., Shimada,T.,
            Watanabe,T., Oikawa,S. and Takekoshi,K.
  TITLE     Identical germline mutations in the TMEM127 gene in two unrelated
            Japanese patients with bilateral pheochromocytoma
  JOURNAL   Clin. Endocrinol. (Oxf) 77 (5), 707-714 (2012)
   PUBMED   22541004
  REMARK    GeneRIF: report shows that TMEM127 mutation plays a pathological
            role in pheochromocytoma in an Asian population.
REFERENCE   2  (bases 1 to 4570)
  AUTHORS   Neumann,H.P., Sullivan,M., Winter,A., Malinoc,A., Hoffmann,M.M.,
            Boedeker,C.C., Bertz,H., Walz,M.K., Moeller,L.C., Schmid,K.W. and
            Eng,C.
  TITLE     Germline mutations of the TMEM127 gene in patients with
            paraganglioma of head and neck and extraadrenal abdominal sites
  JOURNAL   J. Clin. Endocrinol. Metab. 96 (8), E1279-E1282 (2011)
   PUBMED   21613359
  REMARK    GeneRIF: TMEM127 germline mutations confer risks of extraadrenal
            paraganglial tumors in addition to the documented adrenal
            pheochromocytoma.
REFERENCE   3  (bases 1 to 4570)
  AUTHORS   Jiang,S. and Dahia,P.L.
  TITLE     Minireview: the busy road to pheochromocytomas and paragangliomas
            has a new member, TMEM127
  JOURNAL   Endocrinology 152 (6), 2133-2140 (2011)
   PUBMED   21447639
  REMARK    GeneRIF: TMEM127 is a novel pheochromocytoma susceptibility
            gene.[review]
            Review article
REFERENCE   4  (bases 1 to 4570)
  AUTHORS   Burnichon,N., Lepoutre-Lussey,C., Laffaire,J., Gadessaud,N.,
            Molinie,V., Hernigou,A., Plouin,P.F., Jeunemaitre,X., Favier,J. and
            Gimenez-Roqueplo,A.P.
  TITLE     A novel TMEM127 mutation in a patient with familial bilateral
            pheochromocytoma
  JOURNAL   Eur. J. Endocrinol. 164 (1), 141-145 (2011)
   PUBMED   20923864
  REMARK    GeneRIF: Pathological and genomic data demonstrated that a TMEM127
            gene mutation not previously described was causative of a new case
            of familial bilateral pheochromocytoma.
REFERENCE   5  (bases 1 to 4570)
  AUTHORS   Yao,L., Schiavi,F., Cascon,A., Qin,Y., Inglada-Perez,L., King,E.E.,
            Toledo,R.A., Ercolino,T., Rapizzi,E., Ricketts,C.J., Mori,L.,
            Giacche,M., Mendola,A., Taschin,E., Boaretto,F., Loli,P.,
            Iacobone,M., Rossi,G.P., Biondi,B., Lima-Junior,J.V., Kater,C.E.,
            Bex,M., Vikkula,M., Grossman,A.B., Gruber,S.B., Barontini,M.,
            Persu,A., Castellano,M., Toledo,S.P., Maher,E.R., Mannelli,M.,
            Opocher,G., Robledo,M. and Dahia,P.L.
  TITLE     Spectrum and prevalence of FP/TMEM127 gene mutations in
            pheochromocytomas and paragangliomas
  JOURNAL   JAMA 304 (23), 2611-2619 (2010)
   PUBMED   21156949
  REMARK    GeneRIF: Germline mutations of FP/TMEM127 were associated with
            pheochromocytoma but not paraganglioma and occurred in an age group
            frequently excluded from genetic screening algorithms; mutations
            disrupt intracellular distribution of the FP/TMEM127 protein.
REFERENCE   6  (bases 1 to 4570)
  AUTHORS   Qin,Y., Yao,L., King,E.E., Buddavarapu,K., Lenci,R.E.,
            Chocron,E.S., Lechleiter,J.D., Sass,M., Aronin,N., Schiavi,F.,
            Boaretto,F., Opocher,G., Toledo,R.A., Toledo,S.P., Stiles,C.,
            Aguiar,R.C. and Dahia,P.L.
  TITLE     Germline mutations in TMEM127 confer susceptibility to
            pheochromocytoma
  JOURNAL   Nat. Genet. 42 (3), 229-233 (2010)
   PUBMED   20154675
  REMARK    GeneRIF: Germline mutations in TMEM127 confer susceptibility to
            pheochromocytoma and identify TMEM127 as a tumor suppressor gene.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4570)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (bases 1 to 4570)
  AUTHORS   Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H.,
            Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M.,
            Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E.,
            Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J.,
            Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C.,
            Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S.,
            Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M.,
            Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T.,
            Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K.,
            Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A.,
            Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J.,
            Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N.,
            Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J.,
            Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M.,
            Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R.,
            Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W.,
            Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J.,
            Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E.,
            Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A.,
            She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J.,
            Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R.,
            Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A.,
            Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P.,
            Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K.
  TITLE     Generation and annotation of the DNA sequences of human chromosomes
            2 and 4
  JOURNAL   Nature 434 (7034), 724-731 (2005)
   PUBMED   15815621
REFERENCE   9  (bases 1 to 4570)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA212468.1, BC028575.1 and
            AC012307.8.
            On Sep 2, 2010 this sequence version replaced gi:300934845.
            
            Summary: This gene encodes a transmembrane protein with 3 predicted
            transmembrane domains. The protein is associated with a
            subpopulation of vesicular organelles corresponding to early
            endosomal structures, with the Golgi, and with lysosomes, and may
            participate in protein trafficking between these structures.
            Mutations in this gene and several other genes cause
            pheochromocytomas. Alternatively spliced transcript variants
            encoding the same protein have been identified. [provided by
            RefSeq, Aug 2010].
            
            Transcript Variant: This variant (2) has an alternate splice site,
            resulting in a shorter 5' UTR, as 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 :: BC028575.1, AL560993.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025083 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DA212468.1         1-24
            25-1960             BC028575.1         6-1941
            1961-4570           AC012307.8         128546-131155       c
FEATURES             Location/Qualifiers
     source          1..4570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..4570
                     /gene="TMEM127"
                     /note="transmembrane protein 127"
                     /db_xref="GeneID:55654"
                     /db_xref="HGNC:26038"
                     /db_xref="MIM:613403"
     exon            1..145
                     /gene="TMEM127"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    140..142
                     /gene="TMEM127"
                     /note="upstream in-frame stop codon"
     exon            146..497
                     /gene="TMEM127"
                     /inference="alignment:Splign:1.39.8"
     CDS             254..970
                     /gene="TMEM127"
                     /codon_start=1
                     /product="transmembrane protein 127"
                     /protein_id="NP_001180233.1"
                     /db_xref="GI:300934846"
                     /db_xref="CCDS:CCDS2018.1"
                     /db_xref="GeneID:55654"
                     /db_xref="HGNC:26038"
                     /db_xref="MIM:613403"
                     /translation="

MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLLKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQHKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP

"
     misc_feature    302..304
                     /gene="TMEM127"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (O75204.1); phosphorylation site"
     misc_feature    365..841
                     /gene="TMEM127"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl17758"
                     /db_xref="CDD:248312"
     misc_feature    539..601
                     /gene="TMEM127"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O75204.1);
                     transmembrane region"
     misc_feature    641..703
                     /gene="TMEM127"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O75204.1);
                     transmembrane region"
     misc_feature    758..820
                     /gene="TMEM127"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O75204.1);
                     transmembrane region"
     exon            498..662
                     /gene="TMEM127"
                     /inference="alignment:Splign:1.39.8"
     exon            663..4570
                     /gene="TMEM127"
                     /inference="alignment:Splign:1.39.8"
     variation       1186
                     /gene="TMEM127"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200462376"
     STS             2162..2296
                     /gene="TMEM127"
                     /standard_name="RH68603"
                     /db_xref="UniSTS:57737"
     variation       2389
                     /gene="TMEM127"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1061578"
     variation       2551
                     /gene="TMEM127"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11558941"
     STS             2860..3021
                     /gene="TMEM127"
                     /standard_name="D2S1663E"
                     /db_xref="UniSTS:52675"
     STS             3344..3434
                     /gene="TMEM127"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       3482
                     /gene="TMEM127"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1138984"
     STS             3591..3725
                     /gene="TMEM127"
                     /standard_name="D2S2931"
                     /db_xref="UniSTS:33276"
     STS             4065..4192
                     /gene="TMEM127"
                     /standard_name="SHGC-30679"
                     /db_xref="UniSTS:21283"
     polyA_site      4204
                     /gene="TMEM127"
ORIGIN

agaggaggaggaagccggaagtgcatcggccccgggtctgtccgggcgttgcgggattggggcctgggaacgctcggcccccggcagccgagaagcccgtgactgggctgagcagcaccatcccagccctggggcctgctgactgcgaacccggagcgttgctatcctccaccggactgtcaggctctgcgcgccccgcggaggtcggcggcgaccagcagcgactgcggagcgacggcgggcggccccgggcatgtacgcccccggaggcgcagggctgcccggcgggcgccggcggaggagcccgggaggcagcgctctgcccaagcagccggagcgtagcctggcctcggccctgcctggcgccctgtctatcacggcgctgtgcactgccctcgccgagcccgcctggttgcacatccacggaggcacctgttcgcgccaggagctgggggtctccgacgtgttgggctatgtgcacccggacctgctgaaagatttctgcatgaatccccagacagtgctgctcctgcgggtcatcgccgccttctgtttcctgggcatcctgtgtagtctctccgctttccttctggatgtctttgggccgaagcatcctgctctgaagatcactcgtcgctatgccttcgcccatatcctaacggttctgcagtgtgccaccgtcattggcttttcttattgggcttctgaactcatcttggcccagcagcagcagcataagaagtaccatggatcccaggtctatgtcaccttcgccgttagcttctacctggtggcaggagctggtggagcctcaatcctggccacggcagccaacctcctgcgccactaccccacagaggaagaggagcaggcgctggagctgctctcagagatggaagagaacgagccctacccggcggaatatgaggtcatcaaccagttccagccaccccctgcttacacaccctaatgccagccctgggctctcttcctcggcagcccctccctcaactctgcagctcctctcgcacccagaggagctcctttccccagcaggcctcactggtaggatcctgaccatcttctccaaaccttccccaggagagactctgcctttagggtcatccaagtatccctgctctcagaaccggaggtccactggttttctataatgtactctttccctcctgccacatcctgcccccttcacattcacgagtcattaccagccagggaaggtcatccaagtttcctccagcatgggcgatatctttgggaccgagactttccttggagagctgctgagagcggacagtcccaaaaacaagtgtcaaagggcccaagggaaaggggactgtgccctggaggctcacttcacagggatcagtgtttgctccacagctgtagctctgggctgacgccccccagaccccttccttctcggagtgacccgcccccaggccacctgctccggggagttctgtgcactttactctttggacttctcctcacgtgtgccctggttttatggggagagggaatcgctgttgggaaggcagagcagttgcaaccctctctgcccttgcttcatgtggctggagcccaggcaaggagagcaggagccagcgtgagactgaggccccctggtgcctatcaaggaccagagtgaaggggactacatctcccagcccttcaccttttaaatatgagtggttttaaaaggaaaaaaatgaaaccaggcaacagcaacaatattctgtttttaaaatagggacaagactgttgtcactttttagacatgtatcccattccttttggctctgcaatatttggggctgtagctccttccaagcccatggtagtccctccccgagtctctcccagtagaatgcagcctcccttccctggccccttccctctcagtgacggtgactccctggggccttctcgtggaacccagaggggctgaggactgtggcctggctggcgggccagcgtggtgctcctcaggactgcagcactgagatggaacctggcctcagtttaggaacaggggccacaacagggcaggaacccaccaccctccacataggaatacaaccagtggggccacatcatgtgaggcatcagacccacactgtcagcccagcaggccgggctgtgtccttcagacccagtgctgccctagactctgactcgggactccagcttgccacgtgccctctcccctcttgaatgtactctggtcttgcagtgtgctgctgggactttcttgctcagccatcactctggtcaccttgtttgctctgggtctggctgaattttctgccctgagatctgggcataaagtggatgaaacttgaaagaccttcagtgtagatccagatggccaacctgtccttgttaagttacttgcttcttgggaatcagtgtcccctgctgagctgaaaaggaaatggattccaatctcttccaacctttaaggtgatagatagtttgagcaagactggagaatggacaacactatgaagctgtggctagaaagggactgtcatgtcccatcctttggccagattgactggggatgtccggacagatgcctgcatgggtggtgagggccacatctgcacacgagccagtggctgcttgcagttcactgctgtgatgccagagtgtgttcaaaggtgactctcctgctcttctggactcttctctcaggcaagaaaggctgcaggctgcctgctatgtgatgcctgagcacaaagccaaggaactgaactaagtctttctgttaagtcctgagtttgtcattggcaggtttacttgtggccagctctctctgcccttgggtgtctgagcaggcagaccagaagaccaggcactggacctgcatgccaaagggactggtcatctcctgaggacctgtaaatgaccctgtggactgttccgcacgatccggaacccactttttattcactccccatgtctttggccttcctcttctttctctttccctctgccatcctgacactgatagtttgtcatataaattccccgggttgtgtttttttttctagaaaaaaattaaaagggaaaacaaaaccaaaaaaaccagaaaccacgaataagaatggaaatgacaatggctgcctgtcatttttctgtcacgattttcctgatttggtttgttccctttgtctcagagaagcaggagatgttgatgaggctgtatttttttttctttttcttgtttttgagacaagagtctcgctctgtcacccgggctggagtgtaacgtggcatgatctcagctcactgcaacctctgcctcctgggttcaagcgattatcctgcctcagcctcctgagtagctgggattacaggcatgcgccactatgcccagataatttttttgtatttttagtagagacagggtttcaccatgttggccaggctggtctggaactcctaacctcaggttatccacccaccttggcctcccaaagtgctgggattataggcatgaaccaccgtgcctggccaaagatgtaatttaaaatagttagaagggacttggcatgggccagctccgtgcatggcattttcacccccagagcttcctaatcctgttttcacacaggaagtttctaggtctttctagaacagctagaaatagtagctgactcccgcccaaggcccaaccttcaaaccctgagctcttcaggctgcatcctctggtgagctatagaggagaacgtggctcctaaactctagccatcctgtgggaggaaatagacttctttgggctgtggcttgcagaacaaactacactttttttccctctattgtttaaattttatttaataatttgtgtgtttttctgtctttattttctgtatttcacgtgttccttcactccctagaaactgcactttctttgaaaccataggtaatgaatcttactaggagaggcatggggatagagacagttctgggagtgtgacctgtaagcctcctgtagggcagtgccaggccttgattgcccacgttctctccgttccttcttccttcatacatttgatcacacagcctacacccagccccgagtgtgcatcacggtaaaagagctgagggctctcttcagggagcagcccatttaggtctcttttgttgttgttagggagaatacacatctttcttggaagctgggagtgtgttctcatttcatgtccattcagacaaagcaccattaggcaccatgaaatatacagtgacggacaggaccctgtctgcaaggattttatgtccttagttcaggagatggacttgtccacagaaaggcagagtgaagtgggcggccggctcggaaaagtcctgtgcccagaagggagccagttctgacctgagtgataatgaaaggcttcctggaggacgcagcttgagccacacttgatgtgggagtgaactgggatagggacactcctgctgagagaatggcaagagcaaaagcacactggtggccaggaggtggtaagagccgaggttagaaaggtgaggggtgctcatttaa

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