LOCUS       NM_144572               6126 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens TBC1 domain family member 2B (TBC1D2B), transcript
            variant 1, mRNA.
ACCESSION   NM_144572
VERSION     NM_144572.2
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 6126)
  AUTHORS   Correia-Costa,G.R., de Leeuw,N., Pfundt,R., Sgardioli,I.C., Dos
            Santos,A.P., de Lima Santos,M., Gil-da-Silva-Lopes,V.L. and
            Vieira,T.P.
  TITLE     Biallelic frameshift variant in the TBC1D2B gene in two siblings
            with progressive gingival overgrowth, fibrous dysplasia of face,
            and mental deterioration
  JOURNAL   Clin Genet 102 (6), 537-542 (2022)
   PUBMED   36029130
  REMARK    GeneRIF: Biallelic frameshift variant in the TBC1D2B gene in two
            siblings with progressive gingival overgrowth, fibrous dysplasia of
            face, and mental deterioration.
REFERENCE   2  (bases 1 to 6126)
  AUTHORS   Harms,F.L., Parthasarathy,P., Zorndt,D., Alawi,M., Fuchs,S.,
            Halliday,B.J., McKeown,C., Sampaio,H., Radhakrishnan,N.,
            Radhakrishnan,S.K., Gorce,M., Navet,B., Ziegler,A., Sachdev,R.,
            Robertson,S.P., Nampoothiri,S. and Kutsche,K.
  TITLE     Biallelic loss-of-function variants in TBC1D2B cause a
            neurodevelopmental disorder with seizures and gingival overgrowth
  JOURNAL   Hum Mutat 41 (9), 1645-1661 (2020)
   PUBMED   32623794
  REMARK    GeneRIF: Biallelic loss-of-function variants in TBC1D2B cause a
            neurodevelopmental disorder with seizures and gingival overgrowth.
REFERENCE   3  (bases 1 to 6126)
  AUTHORS   Manshouri,R., Coyaud,E., Kundu,S.T., Peng,D.H., Stratton,S.A.,
            Alton,K., Bajaj,R., Fradette,J.J., Minelli,R., Peoples,M.D.,
            Carugo,A., Chen,F., Bristow,C., Kovacs,J.J., Barton,M.C.,
            Heffernan,T., Creighton,C.J., Raught,B. and Gibbons,D.L.
  TITLE     ZEB1/NuRD complex suppresses TBC1D2b to stimulate E-cadherin
            internalization and promote metastasis in lung cancer
  JOURNAL   Nat Commun 10 (1), 5125 (2019)
   PUBMED   31719531
  REMARK    GeneRIF: TBC1D2b suppresses E-cadherin internalization, thus
            hindering cancer cell invasion and metastasis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6126)
  AUTHORS   Popovic,D., Akutsu,M., Novak,I., Harper,J.W., Behrends,C. and
            Dikic,I.
  TITLE     Rab GTPase-activating proteins in autophagy: regulation of
            endocytic and autophagy pathways by direct binding to human ATG8
            modifiers
  JOURNAL   Mol Cell Biol 32 (9), 1733-1744 (2012)
   PUBMED   22354992
REFERENCE   5  (bases 1 to 6126)
  AUTHORS   Behrends,C., Sowa,M.E., Gygi,S.P. and Harper,J.W.
  TITLE     Network organization of the human autophagy system
  JOURNAL   Nature 466 (7302), 68-76 (2010)
   PUBMED   20562859
REFERENCE   6  (bases 1 to 6126)
  AUTHORS   Yoshimura,S., Egerer,J., Fuchs,E., Haas,A.K. and Barr,F.A.
  TITLE     Functional dissection of Rab GTPases involved in primary cilium
            formation
  JOURNAL   J Cell Biol 178 (3), 363-369 (2007)
   PUBMED   17646400
REFERENCE   7  (bases 1 to 6126)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090260.13 and AC104758.12.
            
            On Sep 24, 2020 this sequence version replaced NM_144572.1.
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4150848.1,
                                           SRR11853563.11601.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300584.8/ ENSP00000300584.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-419               AC090260.13        122377-122795
            420-573             AC090260.13        145901-146054
            574-742             AC090260.13        155020-155188
            743-906             AC090260.13        169918-170081
            907-1145            AC104758.12        171337-171575       c
            1146-1529           AC104758.12        170234-170617       c
            1530-1640           AC104758.12        163925-164035       c
            1641-1834           AC104758.12        162624-162817       c
            1835-2329           AC104758.12        158901-159395       c
            2330-2447           AC104758.12        155075-155192       c
            2448-2633           AC104758.12        149383-149568       c
            2634-2755           AC104758.12        147697-147818       c
            2756-6126           AC104758.12        141063-144433       c
FEATURES             Location/Qualifiers
     source          1..6126
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.3-q25.1"
     gene            1..6126
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /note="TBC1 domain family member 2B"
                     /db_xref="GeneID:23102"
                     /db_xref="HGNC:HGNC:29183"
                     /db_xref="MIM:619152"
     exon            1..419
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..2951
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="TBC1 domain family member 2B isoform a"
                     /protein_id="NP_653173.1"
                     /db_xref="CCDS:CCDS45314.1"
                     /db_xref="GeneID:23102"
                     /db_xref="HGNC:HGNC:29183"
                     /db_xref="MIM:619152"
                     /translation="MPGAGARAEEGGGGGEGAAQGAAAEPGAGPAREPARLCGYLQKL
                     SGKGPLRGYRSRWFVFDARRCYLYYFKSPQDALPLGHLDIADACFSYQGPDEAAEPGT
                     EPPAHFQVHSAGAVTVLKAPNRQLMTYWLQELQQKRWEYCNSLDMVKWDSRTSPTPGD
                     FPKGLVARDNTDLIYPHPNASAEKARNVLAVETVPGELVGEQAANQPAPGHPNSINFY
                     SLKQWGNELKNSMSSFRPGRGHNDSRRTVFYTNEEWELLDPTPKDLEESIVQEEKKKL
                     TPEGNKGVTGSGFPFDFGRNPYKGKRPLKDIIGSYKNRHSSGDPSSEGTSGSGSVSIR
                     KPASEMQLQVQSQQEELEQLKKDLSSQKELVRLLQQTVRSSQYDKYFTSSRLCEGVPK
                     DTLELLHQKDDQILGLTSQLERFSLEKESLQQEVRTLKSKVGELNEQLGMLMETIQAK
                     DEVIIKLSEGEGNGPPPTVAPSSPSVVPVARDQLELDRLKDNLQGYKTQNKFLNKEIL
                     ELSALRRNAERRERDLMAKYSSLEAKLCQIESKYLILLQEMKTPVCSEDQGPTREVIA
                     QLLEDALQVESQEQPEQAFVKPHLVSEYDIYGFRTVPEDDEEEKLVAKVRALDLKTLY
                     LTENQEVSTGVKWENYFASTVNREMMCSPELKNLIRAGIPHEHRSKVWKWCVDRHTRK
                     FKDNTEPGHFQTLLQKALEKQNPASKQIELDLLRTLPNNKHYSCPTSEGIQKLRNVLL
                     AFSWRNPDIGYCQGLNRLVAVALLYLEQEDAFWCLVTIVEVFMPRDYYTKTLLGSQVD
                     QRVFRDLMSEKLPRLHGHFEQYKVDYTLITFNWFLVVFVDSVVSDILFKIWDSFLYEG
                     PKVIFRFALALFKYKEEEILKLQDSMSIFKYLRYFTRTILDARKLISISFGDLNPFPL
                     RQIRNRRAYHLEKVRLELTELEAIREDFLRERDTSPDKGELVSDEEEDT"
     exon            420..573
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            574..742
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            743..906
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1145
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1529
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1640
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1834
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..2329
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            2330..2447
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            2448..2633
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            2634..2755
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     exon            2756..6126
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      6100
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
     regulatory      6103..6108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /note="hexamer: AATAAA"
     polyA_site      6126
                     /gene="TBC1D2B"
                     /gene_synonym="NEDSGO"
                     /note="major polyA site"
ORIGIN      
        1 gcagcggccg cggcgcggag gcgcagggcg cgggcgccta cggttggcgc gcggtagcga
       61 tgccgggggc cggagcccgg gcggaggagg gcggcggcgg cggcgagggc gcggcgcagg
      121 gggcggccgc ggagcccggg gcgggtccgg cgcgggagcc agcgcggctg tgtggctatc
      181 tgcagaagct gtcgggcaag ggccccctgc gtggctaccg cagccgctgg ttcgtgttcg
      241 acgcgcgccg ctgctacctt tactatttca agagtccgca ggacgcgctg cccctcggcc
      301 acttggacat cgcggacgcc tgcttcagct accagggccc cgacgaggcg gcggagccgg
      361 gcacggagcc gcccgcgcac ttccaggtgc acagcgcggg agccgtcacg gtgctcaagg
      421 ctcccaatcg tcaactcatg acttactggt tacaggagct tcagcagaag agatgggaat
      481 attgtaacag tcttgacatg gtcaagtggg acagcaggac ctctccaact cccggggatt
      541 ttcctaaggg tcttgtagcc agagataaca ctgatttaat ttacccacac ccaaatgctt
      601 ctgcagaaaa agccagaaat gtcctagctg tggagactgt gcctggagag ctggtgggag
      661 aacaagctgc aaatcagccc gccccagggc atccaaattc cattaatttt tactctttga
      721 aacagtgggg caatgagctc aagaattcga tgtcttcttt ccgtcctggg agaggacata
      781 atgatagtcg gaggactgtg ttttatacca atgaagagtg ggaactttta gacccaaccc
      841 ctaaggacct agaggagtcc atagtacagg aagaaaagaa gaagctgacc cctgaaggaa
      901 acaaaggagt aactggctca ggattcccct ttgattttgg acgtaacccc tacaaaggaa
      961 agcgcccttt gaaagacata attgggtcgt acaaaaatcg tcacagcagt ggtgaccctt
     1021 caagtgaagg cacatcaggc agtggcagcg tcagcatcag gaagccggcc tccgaaatgc
     1081 aactgcaggt ccagagccag caggaagagc tggaacagtt aaagaaagac ctgtccagtc
     1141 agaaggagct tgttcgactg ctccagcaga cagtccggtc atcccagtat gacaagtatt
     1201 tcacaagcag ccggctctgt gagggggtcc caaaggacac gctcgagctt ctgcaccaaa
     1261 aggatgatca gattctgggc cttaccagcc agctggagag gttcagcttg gagaaggaga
     1321 gtcttcagca ggaagtaagg acgctgaaga gcaaagtggg cgagctcaac gagcagctgg
     1381 gaatgctcat ggagaccatc caagccaagg acgaggtcat catcaagctc agcgagggcg
     1441 agggcaacgg gcctcctccc accgtggcgc ccagctcccc ttcggttgtg cctgttgcca
     1501 gggaccagct ggaactggac aggctgaaag ataatctaca ggggtacaaa acccaaaaca
     1561 aatttctaaa taaggagatt ttggaactct cagctctacg aagaaatgca gaaaggagag
     1621 agagggatct gatggcaaag tattctagcc tggaagccaa gctctgccag atagaaagta
     1681 aatacctgat attgctccaa gaaatgaaga caccagtgtg ctcagaagac caggggccca
     1741 cccgggaggt catagcccag ttgctggagg atgctctgca ggttgagagc caagagcagc
     1801 cggagcaagc atttgttaaa cctcatcttg tcagtgaata tgatatttat gggttcagga
     1861 ctgtacctga ggatgatgag gaagagaaat tggttgccaa ggtccgcgcg ttggatctga
     1921 agactctcta cctcacagaa aaccaggaag tctccactgg ggtcaagtgg gaaaactatt
     1981 ttgcaagtac agtgaacagg gagatgatgt gctctccaga gttaaaaaac ctcatccgtg
     2041 cgggcattcc ccacgagcac cgttccaagg tgtggaagtg gtgtgtggac cgtcacacca
     2101 ggaagttcaa ggacaacact gagcctggcc acttccagac cttgctgcag aaggcgctgg
     2161 agaaacagaa cccagcctcc aagcagattg agctggactt gctgcgaact ctgcccaaca
     2221 acaaacatta ctcctgcccc acctcagaag gcatacagaa gttacgcaat gtcctcctcg
     2281 ccttctcctg gcggaatcca gatatcggct actgtcaagg cctaaacagg ttggtggcag
     2341 tggccctcct gtacctggaa caagaagatg ctttctggtg tctcgttacc atagtggaag
     2401 ttttcatgcc tcgagactat tatacaaaga ctcttttagg atcccaggtg gaccagcggg
     2461 tgttcagaga ccttatgagt gagaagctgc ctcggttgca tggccacttt gaacagtaca
     2521 aagtcgacta cactctcatc actttcaact ggtttctggt ggtatttgtg gatagtgtcg
     2581 ttagtgacat cctctttaaa atatgggact ctttccttta tgaaggacca aaggttattt
     2641 tccgttttgc tctggcactt tttaagtaca aggaagagga gattttgaaa ttgcaagatt
     2701 cgatgtctat atttaagtat ctccgctact tcactcgcac tatccttgat gctaggaagc
     2761 tgatcagtat ctcctttggg gacctgaacc ctttccccct acgccagatc cggaaccgac
     2821 gcgcctacca cttggagaaa gtccggctgg agctgaccga gctggaggcc atccgtgagg
     2881 acttcctgcg tgagcgggac accagccctg acaagggtga gctggtcagt gacgaggagg
     2941 aggatacctg agtgggctcg ggatgctgct cttccttcct tcacaaccaa agtgtgccca
     3001 aagggtgaaa gtgcacttaa aagccagaat gtaacgtgtg tgtcctctgg ggatctgctg
     3061 ggcagatgtc ccaagccagg ctgcccttcc tcatttccca ctgtgcgggg ggcaggggtg
     3121 ggaggtctaa tctgtttaca accatttccg tgccatgctt ttggttacac gtatctcagt
     3181 cacgctttct gcctggttgg tggatcctca ggcttaccag tggctatttg caagagcctg
     3241 tttccagcct ccgtcagcct gtcggtgctc tgaccctctg aaaccttgct ttgctgggca
     3301 tctccccata ttctctctcc tgtacatagt gggcagtggt gtgtggtttt gaatggcagt
     3361 gctataaagg atgccagctg tgctttaggc acctgtaggc cagagggttg ctgcctcagg
     3421 cataaggttg gtatgaaaag gggctgcctt agaaaagcag gcacatccct tgttcagaaa
     3481 tggccactgt aggaaagcct gtgaacctcc caccagtggc tttaagctgc cagccatgcc
     3541 ccatttctag aatagccttt gctcttccac acgcaaccct tccatcagtg tcttccagcc
     3601 tgcatgggga gggcctggct gcccagacac ccaccctcac ttctcatggc cagcctgtgt
     3661 ttgcagatca ctgggctgct ctgtccccag cttgccccgt gccaggcatg gctctgtgag
     3721 attctgtgga atgcccttct tgacttgtgg aaatcattca ccaagtacga tgggatggga
     3781 ttccaagtaa acagtggacc gtcatattgc aaagcaggcc cacgcctggg ctggccttgg
     3841 ttgaggggat ggaggaatgt tttcgggggt gctttgcagg gcagtggtgc agccgcagcg
     3901 tgaacgctct tggacagctg aaaaccatgg cctccttggg gatggccagt gctcctggtg
     3961 tctccacctg cctgggttgt gcaggaggcc ggctgccagt gcctggggct gggaaacttt
     4021 tttgcttggg gcaggcttgg gtgagctctc ccagatgtgt gcccacccca ccactgcctg
     4081 gaacatcctt gttctctgcc aggatgcagg ggcactgttg cctctgacac agcagtttct
     4141 gggaactcag aggactgcct ttctgaaggc tggggagagg ctttgagcaa ggagcttgtt
     4201 tttgcttaat cgctctagac catccctgat gcgtagatgt gagaggatgt tttctggcac
     4261 agtgttatga aaatacaaga taaatgatct cagtggaatg tttcatatta cccgaaaaaa
     4321 actggaaatc atcctttgtt gtgaacacac tgagactaag aattgaagca atgcagtttt
     4381 aagaagtatt tttcctattt tttgctgtca actttttggc aatgccacgg caaagttggt
     4441 gtttcagcac atgctagagt gagctccggc ttcgtgtctt taaccaactc cactaatgtt
     4501 tcactgggta gacggagctg gcctctatat ttagccagaa gcctttgcct cttttcaggc
     4561 atcaaaaatg ggttttgtca ttgtctttgt ctttgagagc agcagtttga ggtctgactc
     4621 cttcagttgt cctgtgagct gggcgttgca gtctgctcga atcaagtgtt ggaacccccc
     4681 ccacccctca gcccatcgtg aaacgacagc tgtcagcctg gggggcggct gctgaggagg
     4741 tgcagcagga atggggctgg gccctgaggt tttactttcc gagccaatgg cccctggaac
     4801 atgccagcac acactgccat gtcctggggc taagagctgc ctttagggac aggctcgtgt
     4861 tgtccagttt gccctgagag atgcacctga ccaggggccc gtcgtggctg caacccacgg
     4921 tggtatgtta gtgtttccag gcagttgtca gcagctgccg ggcagtgtgt gtgtgcgaca
     4981 gcaggagagt tcctggagga aagggactgg ggacactttc tcagaggttc tcctgcctgg
     5041 aatcaagtga tgcgtgtcca gaaggcaaga gagggcggct ccgcctggtt aaagtttggg
     5101 aacgggacgg agccaactcc tccttccagg actgtgggcc ccactctttt gcgctaacac
     5161 ttcccctccc tcgggtcact gaggaaagag ctgctctgtc ccctccagtg ccctgaaggt
     5221 ccctggcctc cactggctgc catggcaggg ggcccttctg acaggggctg ccccaagctg
     5281 ctgttcctcc tctgaacctt caccccaaca cccagcccgt ggcccctgca agggggaccc
     5341 tgccagctgg gaaacccaaa ggcctgtcca aacgtgcgca ccaggaccga ggggagctcc
     5401 ctcccaacac ctgctaggaa ttgccaactt ttaaatggat ggggtttttt atgggttgaa
     5461 cctctgttaa tacttttgta cactctcact acagtttata tttttatagg ctattttctc
     5521 aaggtgtttc tagattccac atatctattt tatataacaa gttattatgt tatgtgtgtg
     5581 actcccttgt gtgtatctgt gccagcctca gcctccgagt tgcttttccc tctggccctg
     5641 actctcactg actcaccgat gtgatgtgca ggcccacttc ttaccccaga tagcctcggg
     5701 cgctgcctgt agtcatgctg acagctgtac agtagccgcc aagactgctg acagctggag
     5761 acggttctgg tttcaactac ggtatattga tatcggaagt attctagaca gatcctcggt
     5821 tgggttttct agctacatgt ttgtattgca cagatcccca cctgccatcc tatagtgttg
     5881 tcttcctgtg tgttccgggg cttctgggca gctgggcctg cccggggaag tccttgcagg
     5941 tgggaggcca tacagagacc cactgtgtgc cactgaacgt cccactgctg ctgggcaact
     6001 ggaggactgc agggggcgcc aggtgactct ctccttttat atcacagcag ctcctgtgct
     6061 gaccttcaag ttacgttttg gaactgtaat actaaaggaa gaaataaact actaatttgt
     6121 ataata
//
