LOCUS       NM_018968               1907 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens syntrophin gamma 2 (SNTG2), mRNA.
ACCESSION   NM_018968 XM_352505
VERSION     NM_018968.4
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 1907)
  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   2  (bases 1 to 1907)
  AUTHORS   Jales Neto,L.H., Wicik,Z., Torres,G.H.F., Takayama,L.,
            Caparbo,V.F., Lopes,N.H.M., Pereira,A.C. and Pereira,R.M.R.
  TITLE     Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is
            associated with osteoporotic vertebral fracture in elderly women
            from community
  JOURNAL   Mol Genet Genomic Med 8 (9), e1391 (2020)
   PUBMED   32602654
  REMARK    GeneRIF: Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts
            is associated with osteoporotic vertebral fracture in elderly women
            from community.
REFERENCE   3  (bases 1 to 1907)
  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   4  (bases 1 to 1907)
  AUTHORS   Rio,M., Royer,G., Gobin,S., de Blois,M.C., Ozilou,C., Bernheim,A.,
            Nizon,M., Munnich,A., Bonnefont,J.P., Romana,S., Vekemans,M.,
            Turleau,C. and Malan,V.
  TITLE     Monozygotic twins discordant for submicroscopic chromosomal
            anomalies in 2p25.3 region detected by array CGH
  JOURNAL   Clin Genet 84 (1), 31-36 (2013)
   PUBMED   23061379
  REMARK    GeneRIF: MYT1L and the SNTG2 genes within the reported region could
            probably relate to the phenotypic discordance of the monozygotic
            twins.
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Yamakawa,H., Oyama,S., Mitsuhashi,H., Sasagawa,N., Uchino,S.,
            Kohsaka,S. and Ishiura,S.
  TITLE     Neuroligins 3 and 4X interact with syntrophin-gamma2, and the
            interactions are affected by autism-related mutations
  JOURNAL   Biochem Biophys Res Commun 355 (1), 41-46 (2007)
   PUBMED   17292328
  REMARK    GeneRIF: A de novo binding partner of X-linked neuroligin 4 and
            neuroligin 3, which correlates with autism-related mutations.
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   Ou,Y., Strege,P., Miller,S.M., Makielski,J., Ackerman,M.,
            Gibbons,S.J. and Farrugia,G.
  TITLE     Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated
            interaction
  JOURNAL   J Biol Chem 278 (3), 1915-1923 (2003)
   PUBMED   12429735
  REMARK    GeneRIF: role in regulating SCN5A gating by a PDZ domain-mediated
            interaction
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Piluso,G., Mirabella,M., Ricci,E., Belsito,A., Abbondanza,C.,
            Servidei,S., Puca,A.A., Tonali,P., Puca,G.A. and Nigro,V.
  TITLE     Gamma1- and gamma2-syntrophins, two novel dystrophin-binding
            proteins localized in neuronal cells
  JOURNAL   J Biol Chem 275 (21), 15851-15860 (2000)
   PUBMED   10747910
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116614.6, BC035783.1,
            AJ003029.1 and BG208326.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018968.3.
            
            Summary: This gene encodes a protein belonging to the syntrophin
            family. Syntrophins are cytoplasmic peripheral membrane proteins
            that bind to components of mechanosenstive sodium channels and the
            extreme carboxy-terminal domain of dystrophin and
            dystrophin-related proteins. The PDZ domain of this protein product
            interacts with a protein component of a mechanosensitive sodium
            channel that affects channel gating. Absence or reduction of this
            protein product has been associated with Duchenne muscular
            dystrophy. There is evidence of alternative splicing yet the
            full-length nature of these variants has not been described.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ003029.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2154125
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308624.10/ ENSP00000311837.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC116614.6         22947-22965
            20-155              BC035783.1         1-136
            156-1631            AJ003029.1         139-1614
            1632-1632           BG208326.1         199-199
            1633-1907           AJ003029.1         1616-1890
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.3"
     gene            1..1907
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /note="syntrophin gamma 2"
                     /db_xref="GeneID:54221"
                     /db_xref="HGNC:HGNC:13741"
                     /db_xref="MIM:608715"
     exon            1..220
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1768
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /note="syntrophin-5"
                     /codon_start=1
                     /product="gamma-2-syntrophin"
                     /protein_id="NP_061841.2"
                     /db_xref="CCDS:CCDS46220.1"
                     /db_xref="GeneID:54221"
                     /db_xref="HGNC:HGNC:13741"
                     /db_xref="MIM:608715"
                     /translation="MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIR
                     LKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQPVGGLGLSIKGGSEHNVPVVISK
                     IFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPA
                     FLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLD
                     TLSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANI
                     RELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTP
                     PVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIV
                     AGHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALG
                     FTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLH
                     CIHSFIAAKVASVDPGFMDSQSLARKYMYSS"
     exon            221..358
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            359..415
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            416..473
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            474..517
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            518..559
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            560..647
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            648..739
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            740..867
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            868..997
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1036
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1153
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1225
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1432
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1525
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1526..1636
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1907
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1882..1887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /note="hexamer: AATAAA"
     polyA_site      1907
                     /gene="SNTG2"
                     /gene_synonym="G2SYN; SYN5"
                     /note="major polyA site"
ORIGIN      
        1 agccctgcgc cccggtggag cccgagccgg agccggcaga ggggcgcggg cgcggacgcg
       61 gcgcctggcg gggccctggg aggctcggac ggggtcctgg cgttgagctc ggccggcccg
      121 gagcgcggac ccagccgcag gggcggcgat gggcaccgag ggacccccgc ccccggccgc
      181 ctcccgcgga cgccagggct gcctgctggt acctgcgcgg acgaaaacca ctattgctct
      241 gttgtatgat gaagagtccg aaaatgccta tgacatccgg ctgaagctga cgaaagaggt
      301 gctgacaatt cagaaacaag atgttgtctg tgtgggcgga agccaccagg gcaggaatcg
      361 cagaactgtt acactccgca gacagccagt tggcggcttg ggcctgagta taaagggagg
      421 ttctgagcac aacgtccctg tcgtcatatc aaaaatattc gaagaccaag cagctgacca
      481 gacagggatg ttgttcgtag gagatgctgt tctccaggtt aatggcatac atgtagaaaa
      541 tgcaactcat gaagaagtgg tgcatctgct gagaaatgct ggcgatgaag ttaccatcac
      601 cgttgagtat ctcagggaag cgccggcatt tctgaagctc ccgttagggt ccccagggcc
      661 atccagcgac cacagcagtg gggcctcctc tcccctcttt gacagcggtt tgcatctgaa
      721 cggaaactcc agtaccacag ccccatcgtc accttcctcg cccatagcta aggacccgag
      781 gtatgagaag cgctggctgg acaccttgtc cgtgcctctg tccatggctc gcatctcaag
      841 gtacaaagcc ggaacggaaa aattaaggtg gaatgcgttc gaggtgctcg ccctggacgg
      901 agtcagctct gggatcctcc ggttttacac agcccaggat ggcaccgact ggctgcgggc
      961 ggtctcagcc aacatcaggg agctgacact tcagaacatg aagatggcga acaaatgctg
     1021 ctctccttcc gaccaggttg tgcatatggg gtgggtaaat gagaaactcc aaggagctga
     1081 ctcctctcaa accttcagac ccaagttcct agcactgaag ggcccgtcct tctacgtttt
     1141 cagcactcct ccggtgagca cattcgattg ggtgcgagca gaaaggacct atcacctctg
     1201 tgaggtgcta tttaaagttc acaagttctg gctcacagag gactgctggt tgcaagcaaa
     1261 cttgtatctg ggtcttcaag attttgactt tgaggaccag aggccctatt gcttcagcat
     1321 cgtggccggc catgggaaga gccatgtttt caacgtggag cttggcagcg agctggccat
     1381 gtgggagaag tccttccaaa gagccacgtt catggaagtt cagagaaccg ggtccagaac
     1441 atacatgtgc agctggcaag gagagatgct gtgtttcacg gtggatttcg cgttgggatt
     1501 tacctgtttt gagagtaaga ccaagaatgt gctctggaga tttaaatttt cccagcttaa
     1561 gggatcttca gatgatggga aaactcgagt aaagctgctg tttcagaatc tggacaccaa
     1621 acagattgag acgaaggaac tcgagttcca ggacctgagg gctgtcctgc actgcatcca
     1681 ctccttcata gcagccaagg tggcctccgt ggaccccggc ttcatggaca gtcagagtct
     1741 tgccagaaaa tacatgtaca gcagctaaag gttgtttctg ttgagtgctg aaaaattaaa
     1801 ttattttcgt aagaaatgat tctttcctgc agaatattgc aactttgtgt tgttttatga
     1861 tgagcctata gttgtgatac caataaaaca tgtcactagt ttccaaa
//
