LOCUS       NM_023927               2905 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens GRAM domain containing 2B (GRAMD2B), transcript
            variant 2, mRNA.
ACCESSION   NM_023927
VERSION     NM_023927.4
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 2905)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2905)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2905)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 2905)
  AUTHORS   Besprozvannaya,M., Dickson,E., Li,H., Ginburg,K.S., Bers,D.M.,
            Auwerx,J. and Nunnari,J.
  TITLE     GRAM domain proteins specialize functionally distinct ER-PM contact
            sites in human cells
  JOURNAL   Elife 7, e31019 (2018)
   PUBMED   29469807
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2905)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2905)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   7  (bases 1 to 2905)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   8  (bases 1 to 2905)
  AUTHORS   Fong,K.W., Leung,J.W., Li,Y., Wang,W., Feng,L., Ma,W., Liu,D.,
            Songyang,Z. and Chen,J.
  TITLE     MTR120/KIAA1383, a novel microtubule-associated protein, promotes
            microtubule stability and ensures cytokinesis
  JOURNAL   J Cell Sci 126 (Pt 3), 825-837 (2013)
   PUBMED   23264731
REFERENCE   9  (bases 1 to 2905)
  AUTHORS   Grassi,M.A., Tikhomirov,A., Ramalingam,S., Below,J.E., Cox,N.J. and
            Nicolae,D.L.
  TITLE     Genome-wide meta-analysis for severe diabetic retinopathy
  JOURNAL   Hum Mol Genet 20 (12), 2472-2481 (2011)
   PUBMED   21441570
REFERENCE   10 (bases 1 to 2905)
  AUTHORS   Cirulli,E.T., Kasperaviciute,D., Attix,D.K., Need,A.C., Ge,D.,
            Gibson,G. and Goldstein,D.B.
  TITLE     Common genetic variation and performance on standardized cognitive
            tests
  JOURNAL   Eur J Hum Genet 18 (7), 815-820 (2010)
   PUBMED   20125193
  REMARK    Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CF994851.1, BC008590.1, AK024966.1, CB306011.1 and AC093535.2.
            
            On May 17, 2019 this sequence version replaced NM_023927.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding region, and initiates translation at an alternate start
            codon, compared to variant 1. The encoded isoform (2) has a
            distinct N-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK024966.1, SRR1803614.149677.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285689.8/ ENSP00000285689.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                CF994851.1         291-325
            36-2457             BC008590.1         1-2422
            2458-2700           AK024966.1         2458-2700
            2701-2702           CB306011.1         17-18               c
            2703-2905           AC093535.2         81482-81684
FEATURES             Location/Qualifiers
     source          1..2905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     gene            1..2905
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /note="GRAM domain containing 2B"
                     /db_xref="GeneID:65983"
                     /db_xref="HGNC:HGNC:24911"
                     /db_xref="MIM:620182"
     exon            1..281
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1497
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     hepatitis C virus nonstructural protein 3-transactivating
                     protein 2; GRAM domain-containing protein 3; HCV
                     NS3-transactivated protein 2; GRAM domain containing 3;
                     GRAM domain-containing protein 2B"
                     /codon_start=1
                     /product="GRAM domain-containing protein 2B isoform 2"
                     /protein_id="NP_076416.2"
                     /db_xref="CCDS:CCDS4136.1"
                     /db_xref="GeneID:65983"
                     /db_xref="HGNC:HGNC:24911"
                     /db_xref="MIM:620182"
                     /translation="MTELQQDVEDTKPAKVLGKRESKLGSAHSEAENGVEEKKKACRS
                     PTAQSPTPSVEADSPDQKKIISLWSKSSFDGASLASDKNDCKTESKNDPKTERKKSSS
                     SSQYKANMHFHKLFLSVPTEEPLKQSFTCALQKEILYQGKLFVSENWICFHSKVFGKD
                     TKISIPAFSVTLIKKTKTALLVPNALIIATVTDRYIFVSLLSRDSTYKLLKSVCGHLE
                     NTSVGNSPNPSSAENSFRADRPSSLPLDFNDEFSDLDGVVQQRRQDMEGYSSSGSQTP
                     ESENSRDFHATESQTVLNVSKGEAKPTRADAHVNRVPEGKAKSLPVQGLSETVGILHK
                     VKSQKCPMLHHILIFYAIVVCALIISTFYMRYRINTLEEQLGLLTSIVDTHNTEQAAP
                     SGLRSQVQFNVEVLCQELTANIVKLEKIQNNLQKLLENGD"
     exon            282..401
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            402..513
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            514..580
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            581..684
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            685..780
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            781..852
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            853..933
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1045
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1168
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1256
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1361
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1455
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..2905
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2426..2431
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /note="hexamer: AATAAA"
     polyA_site      2453
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /note="major polyA site"
     regulatory      2670..2675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /note="hexamer: AATAAA"
     polyA_site      2702
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /note="major polyA site"
ORIGIN      
        1 aatcgcgccc gctccgacgt gtccaggtcc gcggccccgg gagcttggcg cggcccggcc
       61 tggatgcgct gggcggaggg tgcaggggag ggcacggcgc cgcttgcttg gcctgcgcac
      121 ccggacctag aagccgggac gagccggggc agagccaggc gcgcggaagt ctgaaggtgc
      181 cctccagaca cggccccgat gactgaacta cagcaagatg tggaagacac aaagcctgcg
      241 aaagtgctcg ggaagaggga gagcaaactt ggctcagccc actcagaggc tgagaatggt
      301 gtggaggaga aaaagaaagc ctgcaggtcg ccaacagccc aatcccctac cccatctgtg
      361 gaggcggact ccccagacca gaagaaaatc attagcctat ggtcaaaatc cagttttgat
      421 ggtgcctctt tagcaagtga taagaacgac tgtaaaacag aaagcaaaaa tgaccctaag
      481 actgaaagaa aaaagtcttc atcttccagc cagtacaagg ccaatatgca ctttcacaag
      541 ttgtttctta gtgtcccaac ggaggaacca ctgaagcaaa gctttacctg tgctctacag
      601 aaagaaatac tataccaagg aaagctcttt gtatcagaaa actggatttg ttttcattcc
      661 aaagtctttg gaaaagacac aaagatctct attccagctt tctcggtaac cctaataaag
      721 aaaaccaaaa ctgctcttct agtgccaaac gccctgatca tagcaacagt cacagacagg
      781 tacatatttg tctccttact ctccagagat tcaacttaca aactactaaa atctgtgtgt
      841 ggacacttag aaaatacaag tgttggtaac agtcccaatc catcttctgc tgaaaacagt
      901 ttccgagcag accgcccttc atctctgcct ctggatttca atgatgaatt ctcagatctg
      961 gatggagtgg ttcaacaaag aaggcaagac atggaaggat atagcagttc tggttctcaa
     1021 actcctgaat ctgagaactc tcgagatttc catgcgacag aatcccaaac agttctgaat
     1081 gtctccaagg gagaagcaaa gccaactcgg gcagatgccc atgtgaacag agtacctgaa
     1141 ggaaaagcca agagtctccc tgtacagggt ctgtcagaaa ctgttggaat cttacataaa
     1201 gtcaagtctc agaaatgtcc gatgcttcac catattctta tattctatgc aattgttgtc
     1261 tgtgcactaa tcatctcgac cttctacatg agatacagaa ttaatactct ggaggagcag
     1321 ctggggttac taacctccat tgtggacacc cataatactg aacaggcagc accatctggc
     1381 ctgaggtcac aagtacaatt caatgtggag gttctctgtc aagagcttac agctaacata
     1441 gtgaaattag aaaagataca aaataactta cagaagttgc ttgagaatgg tgactgatcg
     1501 accagattgc ttgggccatc ggaatacctc atgtttccct ttgaagaagg tgcttcctga
     1561 ggcgttttgt ttgagtgcac cctgctggtc agaggtgcaa gcagatgaga atccagacat
     1621 tgcatgtgga ggtctccagc tcaggaaagt gaggagggaa ataattttgg ttcttgtgca
     1681 ataaaagttg accttgactc tctgaggaag attttgctgc ttttgcctga agaaaacaga
     1741 cccatctctg gaggtctcag gaagggccca gcgaacacac tctcttggat aattaccacg
     1801 atggcgtcag caaacactcc accctgtgcc tttttagtcc ttcccgccct cctgcctctc
     1861 ccttacaccc ctcttaacga ctttcaaact aaaggataca tcatatactg acaaactcaa
     1921 tgtggtcctt tcaagaatta gccatgagtc tcaaaaaggc aataaatggc tctaagtgga
     1981 caggtttgct tcaaacaagt aacatctaca ttttgtcttt tttttttcag ttctcctgtt
     2041 atgttctggt tgaaatcacc tgtgtgtctt aatttctcaa ttcctttttg gcaagaatat
     2101 caagcaaggt gaatttaaca ttatgtttat gttttgtttt gttgctgtaa ctaatagtta
     2161 attggactga ttcttaccca gccctggtca agaatctgtg aggcatgtga ctgaagtact
     2221 aaattaaact tattttgaaa ccaaacctaa tttttaagcc aaaaggtgta atagtgattt
     2281 aatacaggat gaaaaacact gaatttttaa gactgtaggt ggactatgtt agtagttttc
     2341 aagcaggatg tctgtattca gcattcaata atgctaaaat ccctttcagc atgaaatttg
     2401 tatgttttta tcctttgctg actaaaataa aataactggt ggtttgctaa ctatttacca
     2461 tatgggttgg ctggttttta ttaataattg tttagggtat cataagatct gtaagtacaa
     2521 aggatattct gtttctatct gcaatgcatt tgataatcat ttctatgaaa tgtattttat
     2581 ttaatcagat aagctaataa gcgaattggt tacatcgttt gtatctgttg gcctagtgga
     2641 cagctgtgcc tggtgcacct ctggctttta ataaatactc attggttgaa acaccctgct
     2701 aacactgtgt tttgtcagtt cgtaaattcc tttaaccaag acttaactat gctttttaac
     2761 tctttttcca cctgccatct actactacca actcacttat acttccttcc tcccaagtaa
     2821 tcatttcaaa actaaaaaag gatttaagtt cttgggttac aacggtttaa aggaaagaaa
     2881 atgaactttg aagtcaaaaa aaaaa
//
