LOCUS       NM_014858               3968 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2),
            transcript variant 1, mRNA.
ACCESSION   NM_014858
VERSION     NM_014858.4
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 3968)
  AUTHORS   Zhang,C., Kho,Y.S., Wang,Z., Chiang,Y.T., Ng,G.K., Shaw,P.C.,
            Wang,Y. and Qi,R.Z.
  TITLE     Transmembrane and coiled-coil domain family 1 is a novel protein of
            the endoplasmic reticulum
  JOURNAL   PLoS One 9 (1), e85206 (2014)
   PUBMED   24454821
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3968)
  AUTHORS   Shameer,K., Denny,J.C., Ding,K., Jouni,H., Crosslin,D.R., de
            Andrade,M., Chute,C.G., Peissig,P., Pacheco,J.A., Li,R.,
            Bastarache,L., Kho,A.N., Ritchie,M.D., Masys,D.R., Chisholm,R.L.,
            Larson,E.B., McCarty,C.A., Roden,D.M., Jarvik,G.P. and Kullo,I.J.
  TITLE     A genome- and phenome-wide association study to identify genetic
            variants influencing platelet count and volume and their
            pleiotropic effects
  JOURNAL   Hum Genet 133 (1), 95-109 (2014)
   PUBMED   24026423
REFERENCE   3  (bases 1 to 3968)
  AUTHORS   Gieger,C., Radhakrishnan,A., Cvejic,A., Tang,W., Porcu,E.,
            Pistis,G., Serbanovic-Canic,J., Elling,U., Goodall,A.H.,
            Labrune,Y., Lopez,L.M., Magi,R., Meacham,S., Okada,Y., Pirastu,N.,
            Sorice,R., Teumer,A., Voss,K., Zhang,W., Ramirez-Solis,R.,
            Bis,J.C., Ellinghaus,D., Gogele,M., Hottenga,J.J., Langenberg,C.,
            Kovacs,P., O'Reilly,P.F., Shin,S.Y., Esko,T., Hartiala,J.,
            Kanoni,S., Murgia,F., Parsa,A., Stephens,J., van der Harst,P.,
            Ellen van der Schoot,C., Allayee,H., Attwood,A., Balkau,B.,
            Bastardot,F., Basu,S., Baumeister,S.E., Biino,G., Bomba,L.,
            Bonnefond,A., Cambien,F., Chambers,J.C., Cucca,F., D'Adamo,P.,
            Davies,G., de Boer,R.A., de Geus,E.J., Doring,A., Elliott,P.,
            Erdmann,J., Evans,D.M., Falchi,M., Feng,W., Folsom,A.R.,
            Frazer,I.H., Gibson,Q.D., Glazer,N.L., Hammond,C.,
            Hartikainen,A.L., Heckbert,S.R., Hengstenberg,C., Hersch,M.,
            Illig,T., Loos,R.J., Jolley,J., Khaw,K.T., Kuhnel,B.,
            Kyrtsonis,M.C., Lagou,V., Lloyd-Jones,H., Lumley,T., Mangino,M.,
            Maschio,A., Mateo Leach,I., McKnight,B., Memari,Y., Mitchell,B.D.,
            Montgomery,G.W., Nakamura,Y., Nauck,M., Navis,G., Nothlings,U.,
            Nolte,I.M., Porteous,D.J., Pouta,A., Pramstaller,P.P., Pullat,J.,
            Ring,S.M., Rotter,J.I., Ruggiero,D., Ruokonen,A., Sala,C.,
            Samani,N.J., Sambrook,J., Schlessinger,D., Schreiber,S.,
            Schunkert,H., Scott,J., Smith,N.L., Snieder,H., Starr,J.M.,
            Stumvoll,M., Takahashi,A., Tang,W.H., Taylor,K., Tenesa,A., Lay
            Thein,S., Tonjes,A., Uda,M., Ulivi,S., van Veldhuisen,D.J.,
            Visscher,P.M., Volker,U., Wichmann,H.E., Wiggins,K.L.,
            Willemsen,G., Yang,T.P., Hua Zhao,J., Zitting,P., Bradley,J.R.,
            Dedoussis,G.V., Gasparini,P., Hazen,S.L., Metspalu,A., Pirastu,M.,
            Shuldiner,A.R., Joost van Pelt,L., Zwaginga,J.J., Boomsma,D.I.,
            Deary,I.J., Franke,A., Froguel,P., Ganesh,S.K., Jarvelin,M.R.,
            Martin,N.G., Meisinger,C., Psaty,B.M., Spector,T.D., Wareham,N.J.,
            Akkerman,J.W., Ciullo,M., Deloukas,P., Greinacher,A., Jupe,S.,
            Kamatani,N., Khadake,J., Kooner,J.S., Penninger,J., Prokopenko,I.,
            Stemple,D., Toniolo,D., Wernisch,L., Sanna,S., Hicks,A.A.,
            Rendon,A., Ferreira,M.A., Ouwehand,W.H. and Soranzo,N.
  TITLE     New gene functions in megakaryopoiesis and platelet formation
  JOURNAL   Nature 480 (7376), 201-208 (2011)
   PUBMED   22139419
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3968)
  AUTHORS   Hopkins,P.C., Sainz-Fuertes,R. and Lovestone,S.
  TITLE     The impact of a novel apolipoprotein E and amyloid-beta protein
            precursor-interacting protein on the production of amyloid-beta
  JOURNAL   J Alzheimers Dis 26 (2), 239-253 (2011)
   PUBMED   21593558
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB007950.3, T51366.1 and BM674135.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014858.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB007950.3, SRR1803611.27869.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358024.8/ ENSP00000350718.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3155              AB007950.3         37-3191
            3156-3156           T51366.1           159-159
            3157-3962           AB007950.3         3193-3998
            3963-3968           BM674135.1         18-23               c
FEATURES             Location/Qualifiers
     source          1..3968
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..3968
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /note="transmembrane and coiled-coil domain family 2"
                     /db_xref="GeneID:9911"
                     /db_xref="HGNC:HGNC:24239"
                     /db_xref="MIM:619429"
     exon            1..826
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /inference="alignment:Splign:2.1.0"
     CDS             620..2749
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cerebral protein 11; transmembrane and coiled-coil domains
                     protein 2"
                     /codon_start=1
                     /product="transmembrane and coiled-coil domains protein 2
                     isoform 1"
                     /protein_id="NP_055673.2"
                     /db_xref="CCDS:CCDS30984.1"
                     /db_xref="GeneID:9911"
                     /db_xref="HGNC:HGNC:24239"
                     /db_xref="MIM:619429"
                     /translation="MKRCRSDELQQQQGEEDGAGLEDAASHLPGADLRPGETTGANSA
                     GGPTSDAGAAAAPNPGPRSKPPDLKKIQQLSEGSMFGHGLKHLFHSRRRSREREHQTS
                     QDSQQHQQQQGMSDHDSPDEKERSPEMHRVSYAMSLHDLPARPTAFNRVLQQIRSRPS
                     IKRGASLHSSSGGGSSGSSSRRTKSSSLEPQRGSPHLLRKAPQDSSLAAILHQHQCRP
                     RSSSTTDTALLLADGSNVYLLAEEAEGIGDKVDKGDLVALSLPAGHGDTDGPISLDVP
                     DGAPDPQRTKAAIDHLHQKILKITEQIKIEQEARDDNVAEYLKLANNADKQQVSRIKQ
                     VFEKKNQKSAQTIAQLHKKLEHYRRRLKEIEQNGPSRQPKDVLRDMQQGLKDVGANVR
                     AGISGFGGGVVEGVKGSLSGLSQATHTAVVSKPREFASLIRNKFGSADNIAHLKDPLE
                     DGPPEEAARALSGSATLVSSPKYGSDDECSSASASSAGAGSNSGAGPGGALGSPKSNA
                     LYGAPGNLDALLEELREIKEGQSHLEDSMEDLKTQLQRDYTYMTQCLQEERYRYERLE
                     EQLNDLTELHQNEMTNLKQELASMEEKVAYQSYERARDIQEAVESCLTRVTKLELQQQ
                     QQQVVQLEGVENANARALLGKFINVILALMAVLLVFVSTIANFITPLMKTRLRITSTT
                     LLVLVLFLLWKHWDSLTYLLEHVLLPS"
     exon            827..1366
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..2301
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2437
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /inference="alignment:Splign:2.1.0"
     exon            2438..3968
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3941..3946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /note="hexamer: AATAAA"
     polyA_site      3968
                     /gene="TMCC2"
                     /gene_synonym="HUCEP11"
                     /note="major polyA site"
ORIGIN      
        1 gcgcgctcgc cgcgggctcg ggccgcggtc gcggctttgc ggcaggctgc gcgtcaggcg
       61 gggagcgggg cgcgcgggcc ggggaggggg ccgggcgcgc tgcgggctcc gcggccggac
      121 catgcggggc aggggccggt tgcagggccg ggggctgcag ccggcgccga tggcggccga
      181 ctaggacctg cccggccggc tgccccgcgc cccgcctcgc cccgcagccc ggccggccgg
      241 gagggatgcg ctgtgccgcc cagctcctct ccgtcctgcc catgccctga agcagaaagt
      301 ttgggggccg ggggttgtct cccttctccc tcctgcaatg actgcccaag gactcttgct
      361 gcccagcctc gactgtgacc tgtcttcgct ccccaggtcg aaatgaacta ttccaagcta
      421 taaccaaggc tcccccttct cgcccctccc tcacccgcct ttaagaattt tttttttaat
      481 tcaagaaatt gtggtctgcc atctcccctc cttgttaata atttagaccc caggcctcat
      541 atgaatataa gagggggtgc ggtcttcccc aagacggcgc gctggaagga cagattcccc
      601 ttgccgaccc acatacacca tgaagaggtg cagatcggac gagctgcagc aacaacaggg
      661 cgaggaggat ggagctgggc tggaagatgc cgcttcccac ctgccgggcg cggacctccg
      721 gcctggggag accacgggtg ctaactctgc tggcgggcca acttcagacg ccggcgctgc
      781 cgcggcgccc aacccaggtc cccgaagcaa gcctcctgat ttaaagaaaa tccagcagct
      841 gtcagagggc tccatgtttg gccacggtct gaagcacctg ttccacagcc gccgtcggtc
      901 tcgggaaagg gagcaccaga cgtctcagga ttcccagcag catcagcagc agcagggtat
      961 gtccgaccat gactccccag atgagaagga gcgctctccg gagatgcatc gcgtctccta
     1021 cgccatgtcc ctgcacgacc tgcccgcccg gcccaccgcc ttcaaccgcg tgctgcagca
     1081 gatccgctcc cggccctcca tcaagcgggg cgccagcctg cacagcagca gtgggggcgg
     1141 cagcagcggg agcagcagcc ggcgcaccaa gagtagctcc ctggagcccc agcgtggcag
     1201 ccctcacctg ctgcgcaagg ccccccagga cagcagcctg gccgccatcc tgcaccagca
     1261 ccagtgccgt ccccgctctt cctccaccac cgacactgct ctgctgctgg ccgacggcag
     1321 caacgtgtac ctcctggctg aggaggccga aggcatcggg gacaaggtcg ataagggaga
     1381 cctggtggcc ctgagcctcc ccgccggcca tggtgacacc gacggcccca tcagcctgga
     1441 cgtgcccgat ggggcaccgg acccccagcg gaccaaggcc gccattgacc acctgcacca
     1501 gaagatcctg aagatcaccg agcagatcaa gattgagcag gaggctcgcg acgacaatgt
     1561 ggcagagtat ctgaaactgg ccaacaacgc ggacaagcag caggtgtcac gcatcaagca
     1621 agtgttcgag aagaagaacc agaagtcagc ccagaccatc gcccagctgc acaagaagct
     1681 ggagcactac cgccggcgcc tgaaggagat tgagcagaac gggccctcgc ggcagcccaa
     1741 ggacgtgctg cgggacatgc agcaggggct gaaggacgtg ggcgccaacg tgcgcgcagg
     1801 catcagcggc tttgggggcg gcgtggtgga gggcgtcaag ggcagcctct ctggcctctc
     1861 acaggccacc cacaccgccg tggtgtccaa gccccgggag tttgccagcc tcatccgcaa
     1921 caagtttggc agtgctgaca acatcgccca cctgaaggac cccctggaag atgggccccc
     1981 tgaggaggca gcccgggcac tgagcggcag tgccacactc gtctccagcc ccaagtatgg
     2041 cagcgatgat gagtgctcca gcgccagcgc cagctcagcc ggggcaggca gcaactctgg
     2101 ggctgggcct ggtggggcgc tggggagccc taagtccaat gcactgtatg gtgctcctgg
     2161 aaacctggat gctctgctgg aagagctacg ggagatcaag gagggacagt ctcacctgga
     2221 ggactccatg gaagacctga agactcagct gcagagggac tacacctaca tgacccagtg
     2281 cctgcaggag gagcgctaca ggtacgagcg gctggaggag cagctcaacg acctgactga
     2341 gcttcatcag aacgagatga cgaacctgaa gcaggagctg gccagcatgg aggagaaggt
     2401 ggcctaccag tcctatgaga gggcacggga catccaggag gccgtggagt cctgcctgac
     2461 ccgggtcacc aagctggagc tgcagcagca acagcagcag gtggtacagc tggagggcgt
     2521 ggagaatgcc aacgcgcggg cgctgctggg caagttcatc aacgtgatcc tggcgctcat
     2581 ggccgtgctg ctggtgttcg tgtccaccat cgccaacttc atcacgcccc tcatgaagac
     2641 acgcctgcgc atcaccagca ccaccctcct ggtcctcgtc ctgttcctcc tctggaagca
     2701 ctgggactcc ctcacctacc tcctggagca cgtgttgctg cccagctgag tggccagcca
     2761 caccaaccct gtgctctctg gcccccagct ggccacactt ctccaggagg gacccttgga
     2821 cttctttgtg tgtccagttt ggcctcctgc ccaaactgtc cattccagca gctcctgccc
     2881 ccttctctgt acttgcttct gtctgacacc ttctccctgt tggcctgaag ggagcttaga
     2941 atgcagccct acctggagat agtgcgggca cctgtggcca agtggagcag aggtggacat
     3001 ggggttggat tgttttgatt atttatagtt acacaaggac ttctcccagc tgaccctcag
     3061 gatgccccaa gtcaggaaga ccattaagaa taggaggaga gggctctgcc tcaactttcc
     3121 taggaaagag cccacctcgg agatagctac ggttttctct ggtggagatg gtgaggatga
     3181 aggctggaga gtgagggagg aggctctgct ggccgcagag aacacaggga tgggagggtc
     3241 cctagccttc gggcacctcc agggccagag agcaggctca gagcagctag tgtggagctc
     3301 agcatcccca ccccacccct cctccctgta gagctgattt gaggcctcct tctggggctg
     3361 ggctctgcag gccaggtggg tgtggcctgt gttttccctt ctgttctttc tgcctgtact
     3421 ggatctgtta ttttcaggga aacaggcccc agggcccccc tgagcctcac cctaagccct
     3481 taggcctctg agagtgctgt tgggttctat ttatttattt atttgttcct ttgttcccta
     3541 cccgtgcccc cagtgtcttc cctgctgagt accaggagag gtcctgcccc atcctctctc
     3601 tgaagccagg gcccttccat tccatttagc ctttggatca tcctggctgg gagaagtggg
     3661 accgagccac ccagccccac tatccccaag cagccctaca gccgggatgg gaggcacgtg
     3721 gcctctcttt tatccgtcta tttattttgt aagtgtattc gtgtggagga ggttgttgct
     3781 ttattttttt aaggctctgg agtgttgtgt atggtttctt ttcacatccc agcctcccat
     3841 gggcacttct aagaagagag gggatttctt ggaaaaggag agaggaatcc cctagagcag
     3901 ggaaagcagt gcctgccagc tgttgtgcac cttcctgaga aataaatatc ctctaaattt
     3961 tcaaacca
//
