LOCUS       NM_003616               1320 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens gem nuclear organelle associated protein 2 (GEMIN2),
            transcript variant alpha, mRNA.
ACCESSION   NM_003616
VERSION     NM_003616.3
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 1320)
  AUTHORS   Aparicio-Bautista,D.I., Jimenez-Ortega,R.F., Becerra-Cervera,A.,
            Aquino-Galvez,A., de Leon-Suarez,V.P., Casas-Avila,L., Salmeron,J.,
            Hidalgo-Bravo,A., Rivera-Paredez,B. and Velazquez-Cruz,R.
  TITLE     Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and
            GEMIN2 (rs2277458) variants with bone mineral density and serum
            25-hidroxivitamin D levels in Mexican Mestizo women
  JOURNAL   Front Endocrinol (Lausanne) 15, 1392063 (2024)
   PUBMED   38715801
  REMARK    GeneRIF: Interaction between MARK3 (rs11623869), PLCB4 (rs6086746)
            and GEMIN2 (rs2277458) variants with bone mineral density and serum
            25-hidroxivitamin D levels in Mexican Mestizo women.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1320)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 1320)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1320)
  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   5  (bases 1 to 1320)
  AUTHORS   Yi,H., Mu,L., Shen,C., Kong,X., Wang,Y., Hou,Y. and Zhang,R.
  TITLE     Negative cooperativity between Gemin2 and RNA provides insights
            into RNA selection and the SMN complex's release in snRNP assembly
  JOURNAL   Nucleic Acids Res 48 (2), 895-911 (2020)
   PUBMED   31799625
  REMARK    GeneRIF: Here we show, using crystallographic and biochemical
            approaches, that Gemin2 of the SMN complex enhances RNA specificity
            of SmD1/D2/F/E/G via a negative cooperativity between Gemin2 and
            RNA in binding SmD1/D2/F/E/G.
REFERENCE   6  (bases 1 to 1320)
  AUTHORS   Sleeman,J.E. and Lamond,A.I.
  TITLE     Newly assembled snRNPs associate with coiled bodies before
            speckles, suggesting a nuclear snRNP maturation pathway
  JOURNAL   Curr Biol 9 (19), 1065-1074 (1999)
   PUBMED   10531003
REFERENCE   7  (bases 1 to 1320)
  AUTHORS   Pellizzoni,L., Charroux,B. and Dreyfuss,G.
  TITLE     SMN mutants of spinal muscular atrophy patients are defective in
            binding to snRNP proteins
  JOURNAL   Proc Natl Acad Sci U S A 96 (20), 11167-11172 (1999)
   PUBMED   10500148
REFERENCE   8  (bases 1 to 1320)
  AUTHORS   Fischer,U., Liu,Q. and Dreyfuss,G.
  TITLE     The SMN-SIP1 complex has an essential role in spliceosomal snRNP
            biogenesis
  JOURNAL   Cell 90 (6), 1023-1029 (1997)
   PUBMED   9323130
REFERENCE   9  (bases 1 to 1320)
  AUTHORS   Liu,Q., Fischer,U., Wang,F. and Dreyfuss,G.
  TITLE     The spinal muscular atrophy disease gene product, SMN, and its
            associated protein SIP1 are in a complex with spliceosomal snRNP
            proteins
  JOURNAL   Cell 90 (6), 1013-1021 (1997)
   PUBMED   9323129
REFERENCE   10 (bases 1 to 1320)
  AUTHORS   Wang,Z., Wu,X. and Friedberg,E.C.
  TITLE     Molecular mechanism of base excision repair of uracil-containing
            DNA in yeast cell-free extracts
  JOURNAL   J Biol Chem 272 (38), 24064-24071 (1997)
   PUBMED   9295360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109628.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 1, 2020 this sequence version replaced NM_003616.2.
            
            Summary: This gene encodes one of the proteins found in the SMN
            complex, which consists of several gemin proteins and the protein
            known as the survival of motor neuron protein. The SMN complex is
            localized to a subnuclear compartment called gems (gemini of coiled
            bodies) and is required for assembly of spliceosomal snRNPs and for
            pre-mRNA splicing. This protein interacts directly with the
            survival of motor neuron protein and it is required for formation
            of the SMN complex. A knockout mouse targeting the mouse homolog of
            this gene exhibited disrupted snRNP assembly and motor neuron
            degeneration. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (alpha) represents the longest
            transcript and encodes the longest isoform (alpha).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC104968.1, AF027150.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308317.12/ ENSP00000308533.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               AL109628.5         64794-64946         c
            154-238             AL109628.5         64356-64440         c
            239-328             AL109628.5         61181-61270         c
            329-388             AL109628.5         60670-60729         c
            389-502             AL109628.5         56726-56839         c
            503-547             AL109628.5         54233-54277         c
            548-616             AL109628.5         50921-50989         c
            617-727             AL109628.5         47201-47311         c
            728-786             AL109628.5         45550-45608         c
            787-1320            AL109628.5         42296-42829         c
FEATURES             Location/Qualifiers
     source          1..1320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.1"
     gene            1..1320
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="gem nuclear organelle associated protein 2"
                     /db_xref="GeneID:8487"
                     /db_xref="HGNC:HGNC:10884"
                     /db_xref="MIM:602595"
     exon            1..153
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..826
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="isoform alpha is encoded by transcript variant
                     alpha; SMN interacting protein 1-delta; gemin-2; component
                     of gems 2; survival of motor neuron protein interacting
                     protein 1; gem-associated protein 2"
                     /codon_start=1
                     /product="gem-associated protein 2 isoform alpha"
                     /protein_id="NP_003607.2"
                     /db_xref="CCDS:CCDS9669.2"
                     /db_xref="GeneID:8487"
                     /db_xref="HGNC:HGNC:10884"
                     /db_xref="MIM:602595"
                     /translation="MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRR
                     VQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTV
                     RQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDY
                     VQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPE
                     AHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS"
     exon            154..238
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            239..328
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            329..388
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            389..502
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            503..547
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            548..616
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            617..727
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            728..786
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     exon            787..1320
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1166..1171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="hexamer: TATAAA"
     polyA_site      1186
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="major polyA site"
     regulatory      1251..1256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="hexamer: ATTAAA"
     regulatory      1256..1261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="hexamer: AATAAT"
     polyA_site      1271
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
     polyA_site      1277
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
     regulatory      1300..1305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
                     /note="hexamer: ATTAAA"
     polyA_site      1320
                     /gene="GEMIN2"
                     /gene_synonym="SIP1; SIP1-delta"
ORIGIN      
        1 ggctggtttg aaaaccatgg cgtgggtacc agcggagtcc gcagtggaag agttgatgcc
       61 tcggctattg ccggtagagc cttgcgactt gacggaaggt ttcgatccct cggtaccccc
      121 gaggacgcct caggaatacc tgaggcgggt ccagatcgaa gcagctcaat gtccagatgt
      181 tgtggtagct caaattgacc caaagaagtt gaaaaggaag caaagtgtga atatttctct
      241 ttcaggatgc caacccgccc ctgaaggtta ttccccaaca cttcaatggc aacagcaaca
      301 agtggcacag ttttcaactg ttcgacagaa tgtgaacaaa catagaagtc actggaaatc
      361 acaacagttg gatagtaatg tgacaatgcc aaaatctgaa gatgaagaag gctggaagaa
      421 attttgtctg ggtgaaaagt tatgtgctga cggggctgtt ggaccagcca caaatgaaag
      481 tcctggaata gattatgtac aaattggttt tcctcccttg cttagtattg ttagcagaat
      541 gaatcaggca acagtaacta gtgtcttgga atatctgagt aattggtttg gagaaagaga
      601 ctttactcca gaattgggaa gatggcttta tgctttattg gcttgtcttg aaaagccttt
      661 gttacctgag gctcattcac tgattcggca gcttgcaaga aggtgctctg aagtgaggct
      721 cttagtggat agcaaagatg atgagagggt tcctgctttg aatttattaa tctgcttggt
      781 tagcaggtat tttgaccaac gtgatttagc tgatgagcca tcttgatgta gctgatctct
      841 cagggataga agatatttct catgaaggca gcctaactct gaggaaaaca atgccaattc
      901 aagtacagat ttcaacacat cttcaacact atgtgaaggg ttcacatctt aacctgtgca
      961 attcagattg atactcagaa tatgggttga tttgaatatc tgaaatatca atggaaaatc
     1021 ccactcagtt tttgatgaac agtttgaaca gttttctgta atcaagcagc ttgcatagaa
     1081 attgtatgat gaaattttac ataggttctt ggtgctgttt tgttcttttt ttgttttttg
     1141 ttgttttgtt atttacttat atacatataa aattttattg aaaatatgtt ttggttacta
     1201 aaattttgtt tgactcctaa caaaagacaa tggatggcct tagcatcaga attaaaataa
     1261 tctggattaa atggcaatgt gttcatagtc agcaataaaa ttaaacattt ttccctttaa
//
