LOCUS       NM_032824               5162 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 87B (TMEM87B), transcript
            variant 1, mRNA.
ACCESSION   NM_032824
VERSION     NM_032824.3
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 5162)
  AUTHORS   Hoel,C.M., Zhang,L. and Brohawn,S.G.
  TITLE     Structure of the GOLD-domain seven-transmembrane helix protein
            family member TMEM87A
  JOURNAL   Elife 11, e81704 (2022)
   PUBMED   36373655
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5162)
  AUTHORS   Yu,H.C., Coughlin,C.R., Geiger,E.A., Salvador,B.J., Elias,E.R.,
            Cavanaugh,J.L., Chatfield,K.C., Miyamoto,S.D. and Shaikh,T.H.
  TITLE     Discovery of a potentially deleterious variant in TMEM87B in a
            patient with a hemizygous 2q13 microdeletion suggests a recessive
            condition characterized by congenital heart disease and restrictive
            cardiomyopathy
  JOURNAL   Cold Spring Harb Mol Case Stud 2 (3), a000844 (2016)
   PUBMED   27148590
REFERENCE   3  (bases 1 to 5162)
  AUTHORS   Riley,K.N., Catalano,L.M., Bernat,J.A., Adams,S.D., Martin,D.M.,
            Lalani,S.R., Patel,A., Burnside,R.D., Innis,J.W. and Rudd,M.K.
  TITLE     Recurrent deletions and duplications of chromosome 2q11.2 and 2q13
            are associated with variable outcomes
  JOURNAL   Am J Med Genet A 167A (11), 2664-2673 (2015)
   PUBMED   26227573
REFERENCE   4  (bases 1 to 5162)
  AUTHORS   Hirata,T., Fujita,M., Nakamura,S., Gotoh,K., Motooka,D.,
            Murakami,Y., Maeda,Y. and Kinoshita,T.
  TITLE     Post-Golgi anterograde transport requires GARP-dependent
            endosome-to-TGN retrograde transport
  JOURNAL   Mol Biol Cell 26 (17), 3071-3084 (2015)
   PUBMED   26157166
REFERENCE   5  (bases 1 to 5162)
  AUTHORS   Hladilkova,E., Baroy,T., Fannemel,M., Vallova,V., Misceo,D.,
            Bryn,V., Slamova,I., Prasilova,S., Kuglik,P. and Frengen,E.
  TITLE     A recurrent deletion on chromosome 2q13 is associated with
            developmental delay and mild facial dysmorphisms
  JOURNAL   Mol Cytogenet 8, 57 (2015)
   PUBMED   26236398
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5162)
  AUTHORS   Russell,M.W., Raeker,M.O., Geisler,S.B., Thomas,P.E., Simmons,T.A.,
            Bernat,J.A., Thorsson,T. and Innis,J.W.
  TITLE     Functional analysis of candidate genes in 2q13 deletion syndrome
            implicates FBLN7 and TMEM87B deficiency in congenital heart defects
            and FBLN7 in craniofacial malformations
  JOURNAL   Hum Mol Genet 23 (16), 4272-4284 (2014)
   PUBMED   24694933
  REMARK    GeneRIF: Heterozygous loss of FBLN7 and TMEM87B account for some of
            the clinical features, including cardiac defects and craniofacial
            abnormalities associated with 2q13 deletion syndrome.
REFERENCE   7  (bases 1 to 5162)
  AUTHORS   Li,S., Liu,P., Xi,L., Jiang,X., Wu,M., Deng,D., Wei,J., Zhu,T.,
            Zhou,L., Wang,S., Xu,G., Meng,L., Zhou,J. and Ma,D.
  TITLE     Expression of TMEM87B interacting with the human papillomavirus
            type 18 E6 oncogene in the Hela cDNA library by a yeast two-hybrid
            system
  JOURNAL   Oncol Rep 20 (2), 421-427 (2008)
   PUBMED   18636207
REFERENCE   8  (bases 1 to 5162)
  AUTHORS   Johnson,J.M., Castle,J., Garrett-Engele,P., Kan,Z., Loerch,P.M.,
            Armour,C.D., Santos,R., Schadt,E.E., Stoughton,R. and
            Shoemaker,D.D.
  TITLE     Genome-wide survey of human alternative pre-mRNA splicing with exon
            junction microarrays
  JOURNAL   Science 302 (5653), 2141-2144 (2003)
   PUBMED   14684825
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA550235.1, AK027587.1,
            AK074243.1, AC092645.2 and AI806006.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032824.2.
            
            Summary: This gene encodes a protein that may interact with human
            papillomavirus type 18 E6 oncogene. The protein is also likely to
            be involved in endosome-to-trans-Golgi network retrograde
            transport. The gene is expressed in adult and fetal tissues,
            including brain and heart. This gene is a component of the 2q13
            deletion syndrome. Mutations in this gene may be associated with
            congenital heart defects. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.263269.1,
                                           SRR1660807.261290.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283206.9/ ENSP00000283206.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-318               DA550235.1         1-318
            319-2192            AK027587.1         350-2223
            2193-3242           AK074243.1         1497-2546
            3243-5121           AC092645.2         8853-10731
            5122-5162           AI806006.1         21-61               c
FEATURES             Location/Qualifiers
     source          1..5162
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     gene            1..5162
                     /gene="TMEM87B"
                     /note="transmembrane protein 87B"
                     /db_xref="GeneID:84910"
                     /db_xref="HGNC:HGNC:25913"
                     /db_xref="MIM:617203"
     exon            1..488
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     CDS             324..1991
                     /gene="TMEM87B"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="transmembrane protein 87B isoform 1 precursor"
                     /protein_id="NP_116213.1"
                     /db_xref="CCDS:CCDS33275.1"
                     /db_xref="GeneID:84910"
                     /db_xref="HGNC:HGNC:25913"
                     /db_xref="MIM:617203"
                     /translation="MVAACRSVAGLLPRRRRCFPARAPLLRVALCLLCWTPAAVRAVP
                     ELGLWLETVNDKSGPLIFRKTMFNSTDIKLSVKSFHCSGPVKFTIVWHLKYHTCHNEH
                     SNLEELFQKHKLSVDEDFCHYLKNDNCWTTKNENLDCNSDSQVFPSLNNKELINIRNV
                     SNQERSMDVVARTQKDGFHIFIVSIKTENTDASWNLNVSLSMIGPHGYISASDWPLMI
                     FYMVMCIVYILYGILWLTWSACYWKDILRIQFWIAAVIFLGMLEKAVFYSEYQNISNT
                     GLSTQGLLIFAELISAIKRTLARLLVIIVSLGYGIVKPRLGTVMHRVIGLGLLYLIFA
                     AVEGVMRVIGGSNHLAVVLDDIILAVIDSIFVWFIFISLAQTMKTLRLRKNTVKFSLY
                     RHFKNTLIFAVLASIVFMGWTTKTFRIAKCQSDWMERWVDDAFWSFLFSLILIVIMFL
                     WRPSANNQRYAFMPLIDDSDDEIEEFMVTSENLTEGIKLRASKSVSNGTAKPATSENF
                     DEDLKWVEENIPSSFTDVALPVLVDSDEEIMTRSEMAEKMFSSEKIM"
     exon            489..549
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            550..641
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            642..773
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            774..824
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            825..915
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            916..977
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1161
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1261
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1355
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1427
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1536
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1595
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1699
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1773
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..1847
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1848..1900
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..1931
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..5162
                     /gene="TMEM87B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5140..5145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM87B"
                     /note="hexamer: AATAAA"
     polyA_site      5162
                     /gene="TMEM87B"
                     /note="major polyA site"
ORIGIN      
        1 atcttcacgc ccacgctagg ccctgagccc agcctccacg tctcgccgcc aactccacat
       61 cctggctcct atctctgcct tccaggcatc tcccagctgc acgctcgggc ccggctcaga
      121 gccctaagcc ctgcctcccg gtcctggccg ggtttcccag aactgcacgg cgcctctccg
      181 cccaggccca agcgcgagcc cctcctccac acccgagtcc gagccccgcg tcccggattc
      241 ggacccgcct gcctggggcg gtgctgcacc aggtgcgggt gtggcaggcg tctcggagcg
      301 ccaggtgcag cttcctggtc aagatggtcg ccgcctgccg ctcggtagcc gggctcctgc
      361 cacgccgccg ccgctgcttt cccgcccggg ccccgctgct gcgcgtcgcc ctctgcctcc
      421 tgtgctggac cccggcggct gtgcgcgcgg tccctgagct cgggctctgg ttagagacag
      481 tcaacgacaa atcaggacct ttgatattta ggaaaactat gtttaactct acagatatca
      541 agttatctgt taagtcattc cattgttctg ggcctgtgaa gtttaccata gtgtggcatt
      601 tgaagtatca tacctgtcac aatgagcatt ctaatctgga agagctgttc caaaaacata
      661 aacttagtgt tgatgaagac ttttgtcatt atttgaagaa tgacaactgt tggacaacaa
      721 aaaatgaaaa cttagattgc aacagtgatt cacaggtgtt tccctctttg aataataaag
      781 aactaataaa tatcagaaat gtttcaaacc aggaaagatc aatggatgtt gtagccagaa
      841 cacaaaaaga tgggtttcat atctttattg tttctattaa aacggagaat acagatgcaa
      901 gctggaattt gaatgtttct ctttctatga ttgggcctca tggatatatc tctgcatcag
      961 attggcccct aatgattttt tacatggtga tgtgtattgt ttatatatta tatggcatac
     1021 tctggctgac gtggtctgcc tgttattgga aagatatatt aagaatccag ttctggattg
     1081 cagctgttat ttttttggga atgcttgaaa aagcagtttt ttatagtgaa taccaaaaca
     1141 tcagcaacac tggactgtca acccaaggct tattgatatt tgcggagttg atttctgcga
     1201 ttaagaggac gttggctcgc cttctcgtga tcattgtgag cctgggctat ggcattgtga
     1261 agcctcgttt aggaacagtc atgcaccggg tgatcggact ggggcttcta tacttaatct
     1321 ttgcagctgt tgaaggcgtg atgagagtca ttgggggttc taaccattta gctgttgttc
     1381 ttgatgacat tattttagca gttattgact ccatttttgt gtggttcatt tttattagtt
     1441 tggcacaaac tatgaagacc ctaaggctaa gaaagaacac tgtgaaattt tcattatata
     1501 gacattttaa aaatactctg atctttgctg tgctggcttc tatagtgttt atggggtgga
     1561 caactaagac atttagaatt gcaaaatgcc aatcagattg gatggaacgc tgggttgacg
     1621 atgcattttg gagcttcctt ttttcgctta tccttattgt aatcatgttt ttgtggagac
     1681 catcagcaaa caatcagaga tatgccttca tgcccttaat agatgattct gatgatgaaa
     1741 ttgaggaatt catggtaact tctgaaaatt taaccgaagg aataaaatta agagcctcaa
     1801 aatcagtttc caatggaaca gctaagcctg ccacttctga gaactttgat gaagatttga
     1861 agtgggtaga agaaaatatt ccctcttcat tcacagatgt agctcttcca gtgttagtgg
     1921 attcagatga ggaaatcatg accagatctg aaatggctga aaaaatgttc tcttcagaaa
     1981 agataatgtg attggaaccc gtataagaaa tgtagttaag cctgaaggac tatccttcat
     2041 caagactgaa agtgagcttt gatttgatat tgcctaaaaa tttttattgt gttatcttgg
     2101 aagtctgtgt atcaaaatga agaattcaga tggtaggagg ttctatagtc cttttaaagc
     2161 tgactcttga gtgtcagttg aatatccatt aaattggatt tggaaataac ctgaggaaag
     2221 tattatgata aagatctgca cagatgcctc ttagctgata ggtggcaggc ctgtgggttt
     2281 gggttctccc tcttttctct ggaacatatg acaattccag attaaagaaa aatgtttttt
     2341 aataaatacc cttggtcttt cttctagtca cctttgaggt agatattgtg attttctgga
     2401 gtatagtata tccgtgtctc tgtgtcttag gtttactaga tgcaataata cttctctttg
     2461 acatttgtac tgaagtgatt tgatattaag taaaacagtt aatgtttgaa tataggcata
     2521 tttataggtt ttttccgctc ccccccaacc cacccttttt aaaaaatcta tacaaagccc
     2581 ttgtttgagt ctcatcatgc acatcaaatc atggagttag gtcttctctg agctcagggg
     2641 aacacaagtg cacagagaga gatgtcttga gggtcactac caaagaatta ccctcattgt
     2701 ccctcactca ggccatgtgt acatgcgatg ctgctgagtg tgctggggtg ggtggtggcc
     2761 acgtggctcc cccagagcac ttcctaactg gcaagctggg agacccatta ctggtgaact
     2821 ttgtggaaat tagaactgta tcttttacat aatcttggca tattacattt cataataaaa
     2881 acatacattt agttgcatgc tacatcacta ttgattttat aattaatttc ttaagcttca
     2941 accatgtttt ataccttatt tcgttacatc atatatttgt aatgtgtaat atgaaatctt
     3001 ttgctttaat gtcttttttt aaaatgtaga atgttctaaa cttgaaaggc aattgaatgt
     3061 agtatgatga aaatgtgaat gttttgctgc tttcatgacc aaagatacag ggctagtgga
     3121 catttagaat aataattaaa gctagagtct tgtatgtctt ttctttgaag gagttctaac
     3181 cttgtaaatt gagaatgact tcagagaatt ttgattaaga aaacattaaa atcttaaccg
     3241 gcacaaacac tccaattttt ttcactgtga agccgcaagc aatttttttt ctttttcttt
     3301 caaaagccta ccttctgaat ttatttcttg tttactcatt tcagagaggg tagtaaagaa
     3361 gatctatttc tggtagtcat atcgcttgaa aggtattggt aaatgtgttt tcagtcgtga
     3421 ccatgtggaa agtgaacagt gttggcaaac attaccgaga aaatcatgct tttcaagatg
     3481 cccttgcttt gggatatcct tcctagggag aaaaaaaaaa agtagtttaa caattgtgaa
     3541 ttccatttct tatttcagtt tctgctgcag taatgggttc ccacccacta taattcccag
     3601 catttatgtt ctgttgtatt ctccccttag cccagtaaca tttttatcta ataccccatt
     3661 ccccaagttt tgagacagat tgacccccta ctcattatgt ggctctagtt gaattttaaa
     3721 atgtggaata ttgggcttgc aggcagtagg agctgcaaat ctggtagagt gggagtgtgg
     3781 agttaatggt gagtatgtta ataaagggaa actgtctctg acagaatctc agtaatgttt
     3841 accaaaacat gtctttctac agctggtagg ataaatgatg ctaccctgta gctcagctac
     3901 aggctgcagt gcaaactttt cttccatcca gagaaagcag aattccctcc tagtaacctc
     3961 attacaaata ctgttactag aagggcatgt gctgtctgtc accttcagta atatttgtgc
     4021 catctcttga tgactgatga cctggatcga gtatttctat gaagggtctt cttaggcccc
     4081 ttacatacgc aagaggggtg ctctagtgcc atagctgtag ttcacaggaa ggacaccagg
     4141 agaagttata cctagggcta ctgagcagct catcatccct gtttctgcac agtttcctga
     4201 aactggccat cagggcctct gaggcactca aatcagttta cttttagcat gcccccatca
     4261 gggtgggtct cactgttagt gaggatacgg gtctggtttg atgtttttct aggcaaaatg
     4321 cttaagtgtt ctggttatgc cattcattca tacgatgtgt gaaatttgct taaaagggaa
     4381 ttttcatgat ttgatttaga ttagtattta aatatctgct ttagatagca attaatttta
     4441 ttgtaaaaat aaggaaaaat atgtgaatat gtgaattttt taagcctgag agatgataga
     4501 atgttcccat atttttcttg taaagaaaat aatattttaa cttacacatc ctgtagaaaa
     4561 taccaccttt tccccttgta ttacagtaca atgtttacat tactatactg tcaagctgaa
     4621 agtataaaaa atgtacatat acattttgag ttatgtatcc tttttttaaa aaaaagttcg
     4681 agtctgttgc actaggctgt acatgactaa agttgacaga tgctatgcta gatttataat
     4741 cactagttct ggtacttgtg tctttgtatg atcaaagcat gcaataagca atacaaaata
     4801 ccaagcctta tacttaaaag aagtttaaca tattggttaa tatactggtt aatatactgg
     4861 ttaaacatat tgaatgtata taagtggcaa aactagattt ttaaggaagt gtacattata
     4921 atattggagc tcagtactgc atgaagagac ttcattaaaa ctaagaaaac atttatttgg
     4981 ggagaaattt taggcattta agaacttgta tttttctatt ttaaaaagtt aaattattcc
     5041 gtaatttgga agaagtttcg ttgaatgtag gacataaccg tttgaagggt tttcatttga
     5101 aaaattgatg tattttgtgc cttaatattt tgttctttta ataaaaatgc tctgaatttg
     5161 aa
//
