LOCUS       NM_001129891            5715 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens inhibitory synaptic factor family member 2B (INSYN2B),
            transcript variant 1, mRNA.
ACCESSION   NM_001129891 XM_001719710
VERSION     NM_001129891.3
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 5715)
  AUTHORS   Navarini,A.A., Simpson,M.A., Weale,M., Knight,J., Carlavan,I.,
            Reiniche,P., Burden,D.A., Layton,A., Bataille,V., Allen,M.,
            Pleass,R., Pink,A., Creamer,D., English,J., Munn,S., Walton,S.,
            Willis,C., Deret,S., Voegel,J.J., Spector,T., Smith,C.H.,
            Trembath,R.C. and Barker,J.N.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5715)
  AUTHORS   Schmutz,J., Martin,J., Terry,A., Couronne,O., Grimwood,J.,
            Lowry,S., Gordon,L.A., Scott,D., Xie,G., Huang,W., Hellsten,U.,
            Tran-Gyamfi,M., She,X., Prabhakar,S., Aerts,A., Altherr,M.,
            Bajorek,E., Black,S., Branscomb,E., Caoile,C., Challacombe,J.F.,
            Chan,Y.M., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Grigoriev,I., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Israni,S.,
            Jett,J., Kadner,K., Kimball,H., Kobayashi,A., Lopez,F., Lou,Y.,
            Martinez,D., Medina,C., Morgan,J., Nandkeshwar,R., Noonan,J.P.,
            Pitluck,S., Pollard,M., Predki,P., Priest,J., Ramirez,L.,
            Retterer,J., Rodriguez,A., Rogers,S., Salamov,A., Salazar,A.,
            Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N., Wheeler,J.,
            Wu,K., Yang,J., Dickson,M., Cheng,J.F., Eichler,E.E., Olsen,A.,
            Pennacchio,L.A., Rokhsar,D.S., Richardson,P., Lucas,S.M.,
            Myers,R.M. and Rubin,E.M.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK055998.1, AC008449.6 and AI889725.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001129891.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants, 1 and 2, encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.2132.1,
                                           SRR1660809.127468.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377365.4/ ENSP00000366582.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-451               AK055998.1         246-696
            452-1827            AC008449.6         44371-45746
            1828-2709           AK055998.1         2073-2954
            2710-5644           AC008449.6         64647-67581
            5645-5712           AI889725.1         8-75                c
            5713-5715           AC008449.6         67650-67652
FEATURES             Location/Qualifiers
     source          1..5715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..5715
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /note="inhibitory synaptic factor family member 2B"
                     /db_xref="GeneID:100131897"
                     /db_xref="HGNC:HGNC:37271"
     exon            1..219
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /inference="alignment:Splign:2.1.0"
     exon            220..2483
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /inference="alignment:Splign:2.1.0"
     CDS             1138..2745
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /note="protein FAM196B; family with sequence similarity
                     196 member B"
                     /codon_start=1
                     /product="protein INSYN2B"
                     /protein_id="NP_001123363.1"
                     /db_xref="CCDS:CCDS47336.1"
                     /db_xref="GeneID:100131897"
                     /db_xref="HGNC:HGNC:37271"
                     /translation="MAQQNMKVRPVLLKRNSLESVEFVKQPHHRRSKSQQVRFKEDGT
                     TKNPTGLAEVDVQTPEDPAVMGKTQATRHHLPPTYSLSFPRSQKAGGFRNIAIQTSPS
                     LRKHFPVFKRKRLTASKSLVEMPTASQSAIQVNGNLSEQDIVSSDLAYLRLAQHLEDG
                     PRRVKVSHAFLPRVPKVQSNGPVSICLEAGTWRSLEKATAAIQVPDDIYHSPSWEARE
                     SALSPDRSAEVSNSIHPLDDTRPGDGRRVTPLDSEKSTSCLNATSVASHTPGTEELKP
                     ELLLPKDNSDDKDLGSLSSQSKETCVPSSPRTHSSPSQGSHSQPAHPGRASDCPSSSN
                     NHQNLVSLKTNSASKSAPGCQEQTANNPTESDTLEFPNCPGSNHLPSSLSRSETKLQS
                     NREISDINQIHLARGELCDLQGRLQSVEESLHSNQEKIKVLLNVIQDLEKARALTEGR
                     NFYRTGQDLNNCSTCQNTACIIYSVEYDFRQQEGRFHEVLQSLEEAEPVEEASPPPKS
                     PAEPPAPEKQDLRRKTKKVKKKCFWWI"
     exon            2484..2558
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /inference="alignment:Splign:2.1.0"
     exon            2559..5715
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5690..5695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /note="hexamer: AATAAA"
     polyA_site      5715
                     /gene="INSYN2B"
                     /gene_synonym="C5orf57; FAM196B"
                     /note="major polyA site"
ORIGIN      
        1 gtcttttctt ttcacatggt agctgccgag cagtttgttc ggctttttat ttattcctac
       61 gtgagcagac ccactacact tcttgcatat aaacagtgaa aattacaata tgaaggactt
      121 attattcctt cttttggagt aattttgctg ctggtcaaag cctggctcat tgtgcaagga
      181 agggggacca tcctctgcag gtaattccac tgcttcaagg tgctcctcgc ctgcttgcag
      241 atatcagacc ccagctcatc tcagacctca gcccctgagg ccaagcaaac atacatcatc
      301 atggaggctg cagacgtagc tcaccgtgcc cacatgtgaa cttcggccaa cacaccacaa
      361 cagggactct gcccactgaa tcccctgtga ttcctcaatc ctgtcctggt cataccccac
      421 tgggttttgt gaggctattt aggaagataa gtttccctca ctgaagaaaa gagagacagc
      481 atgaaagaaa acaatggccc caaaggagga atttgtgatt gacataaatg ggaatgttcc
      541 cttgggagca tcatgtatca tcaaacaagc aaacctccag gtcatttatt tctccacctg
      601 tttacctgct atggaaagaa gatgcattta agtttcctgc agtttcaccc tggaaattaa
      661 tgctctggga aacaaaaagc tgtatgttct agacgtagca ggtttctttt ggaattcact
      721 cattgggagt ctggcactac cccctaaatg gtacttttgt tgtctttttg ttcaagacag
      781 ccagcttctt ccaagatcag aaccgcgtgc cagcctccct tgataaaccg cctaccagct
      841 ctcttggtag atcagatgtt taatagttag cctaactcat ttgtttttcc aaggagcaat
      901 tatgactaca atgaattaat attttaactg cagggaaagc attacagata gttcctacgt
      961 agactctaga ggctgggaat ggccaacagg atttcccata ctaagaggag aggaccactc
     1021 catcctggcc agcagttctc tatgattgaa atactatcat tagatactgc tccaaagacc
     1081 taaggggaga tgtgcctagg agaagtgtat ggtcctgatc cttcccactg aggctcaatg
     1141 gcccagcaaa atatgaaagt gagacctgtg cttctaaagc gtaacagtct agaatcagtg
     1201 gagtttgtga aacaacctca ccaccgcagg agcaaatccc agcaggtgag attcaaggaa
     1261 gatgggacca ctaagaatcc aactggccta gctgaggttg acgtccaaac tccagaagac
     1321 ccggctgtga tggggaagac tcaagcaacc aggcaccatc ttccccccac ctactcgctc
     1381 tccttcccca ggtcccagaa ggcagggggc tttcgcaaca ttgcaatcca aacttccccc
     1441 agtctcagga agcatttccc agttttcaaa aggaagagac tcacagccag taagtccctg
     1501 gtggaaatgc caacagcctc ccaaagtgcc atccaggtca acggtaacct ctctgaacag
     1561 gacattgtgt cttctgacct tgcctactta aggttggctc agcatcttga ggatgggcct
     1621 cgaagggtca aggtgtccca tgcattcctc ccaagggtcc ccaaggtgca aagcaatggt
     1681 cctgttagca tatgcttgga agcaggaact tggaggtcct tagagaaagc cacagctgcc
     1741 attcaggttc cagatgatat ttatcacagt ccttcctggg aagctagaga gtctgctctc
     1801 agcccagaca ggtcagctga agtaagtaac tccatacacc ctttggatga cacacgtcca
     1861 ggtgatggga gaagggtgac tccactagat tcagaaaaat ccacctcctg cttaaatgcc
     1921 accagcgttg ccagccacac accaggcaca gaggaactta aacctgaatt gcttttgccc
     1981 aaagacaact cagatgacaa agaccttggc tcactgtcat ctcagtcaaa ggaaacgtgt
     2041 gttccttcat ctccacggac tcacagttcc ccctcacaag gctcccacag ccagccagcc
     2101 cacccaggaa gagcctcaga ctgtccttca tcaagtaaca atcaccagaa tctggtgtca
     2161 ctcaaaacta acagtgcatc gaaatctgcc cctgggtgtc aggagcagac ggcaaacaac
     2221 cccaccgagt cagacacact ggagtttcca aattgtccag gaagtaatca tctcccatcc
     2281 tctctttcaa ggagtgagac caaacttcag agcaacaggg agattagtga cattaatcaa
     2341 attcacctgg cacggggtga actctgcgac ctccaaggcc gactgcaatc tgtggaggaa
     2401 tctctgcact cgaaccaaga gaaaattaaa gtccttttga atgtaattca agacttggag
     2461 aaagctcgag ctctcactga agggcgcaac ttttatcgaa ctggccaaga tctcaacaat
     2521 tgcagtacct gccagaacac ggcgtgcatc atatacagtg tagagtatga ttttcggcag
     2581 caggaaggca ggttccatga agttttgcag agtctggagg aagcagagcc agttgaggag
     2641 gcatcgcccc caccaaagtc cccagcagaa cccccagccc cggaaaagca ggacttaagg
     2701 cggaaaacca agaaggtgaa aaagaaatgc ttctggtgga tctgagctgg ttgggaccat
     2761 cccccagccc cccaactcca cgcacttccc tgagatggga aatccactgc acttaaggcc
     2821 tgccctgctt ctttgcaaag gccctgggct gtgagcccct tggcctgtga aacagaagag
     2881 ccttggagct gatgtagccg ctgctggaca cctgaccacg atccttacct gagtgcgtgc
     2941 gactgcttgc tgagggcttc acggacacta gagtgaccgc ttgccaagtt ccctgtcaca
     3001 ctcagccaga actcatgctg agttttaaga ccagattccc accacgagca aaaccccaca
     3061 ctacaccttc caacacctcc aagatgccaa gcacttcctt cccatcctgg gttcataaac
     3121 ccaaaagaaa aaaatagtgt tgtgcagacc cggaaggtag agggaggtta taggttataa
     3181 gcaggtacca tagaaaaaaa tgagataaac tggcagtttt ctaagatatc agcatacata
     3241 ataagcacaa gagaagtggg cagggcataa aatgcttatg caagatcacc ctggtgtgtt
     3301 gggttgtttt cctttttaat tagccccttg atcccaaatt aaggctctgt catctcatgg
     3361 tgcatgcacc tttctgcctg tggcagagtc aggccacccc agggtataaa cttgttggtg
     3421 tggctgtgct ggataagtgt aattcaaaga ggatttcagc agctgtagct gttccagggc
     3481 ccaccctaaa ccatcatgct tcttctctgc ctagggcctg agaccacctg gcaaatgggt
     3541 ggaatctgtt tttggtgtga actttaagac tccatagtta acttacctgc aatatttaaa
     3601 atcatgagat ccagcaacct gtccatcagt tacatcttat gagtaacata gataaggcta
     3661 agataaaaca caacactgtt tctcatccct tcatcccaga aacagccgtg tagataggtt
     3721 caaacatata ttaatcgaca cagtctccct tcctggtgac cagacaatgg tcacctgatt
     3781 gaaaaactag caggactatg gatgaggata tagttttttc tatttgaggt ttaaatatct
     3841 ttccatccca aagtctgagt tattcaaggt ctggctcatt ctgttgacaa gacctacata
     3901 catgtggatc cagtcaaact tgcatggctg aacaaactac taaagtaata taattaagta
     3961 attgctatat actcttgtgg atgaggggta ggatggaaag gctcagattc cttctggttg
     4021 aattaaaatc tctatcagca tgtggttaga ttgacattgc tagaaaggga gcctgaaact
     4081 aaacatacat taaacgaaga aggtattttg taattccctt ggctgaagat ccagtgtcta
     4141 agctagaatc tttgcagagc acagaatcct gtgtgttcgt gggatgtacc taccccactg
     4201 caaattgagc ctaattgagc aaaccactcc gatggtttca ccttcccctg tcatagtgat
     4261 gcagtgaaca aagctatttc agtgagaatg aaagggaaat ttggcaagga atatcagctt
     4321 gcactattta agtcttggaa tgtcattcaa gatgttcttg ttctgtttct agtgtaatgt
     4381 ttaagcccac agaatcagac cggaatatat aacgtcatgt tagaattaag ataaatacac
     4441 ttgtcatact taagaagcca catttcaata agatatgcta ccactggcta aaagccacag
     4501 attttttttt tcctgtatcc atacgatcaa ctgtcagttg gccccagcaa tggaaaagaa
     4561 cagaatagag gataatccaa taaagtgaaa tcatttggga cctcttatgt aattttatct
     4621 tgtagtagag cttccatctt aatttgcttt gcttacgcta atttcatgtg aatttatatt
     4681 ctcgggcatc atgctagaat gtaaataacc ctgttcccag aattaagaga tccaggcaac
     4741 caagcagtct ataccactag cctttggcaa atggcttaaa tttcccggcc tgtttgtcca
     4801 ttcttgaata cagataagaa catatgcttt cctactttat aaactcttag cacgttccac
     4861 attatgtgag ctgagtgact cagagctgag ctggattact ggccaaagtt agcctgggaa
     4921 gataaagaga tgtttgaggt acctcacaca aaattaataa gctgatgtgg tcatagatat
     4981 gtttccagtt gaggccctca catgaaccct taactgaatt aaataaaact gggactagaa
     5041 aatgttgaca ttttctgcac ttccccaaca aaaaaaaaag aaaagaaaag aaaagaaaaa
     5101 aataaataaa atgttgacat ttctagaaat acagccaaac aaggctgtac tgattctaca
     5161 ccaaagcaca acaccgcatt gcttgggcca ctgacctgaa actgggaagg agttctcttc
     5221 tgaaaaattg atatttaaaa tcattatgag gaaataggat tccataaaca ttttcctgat
     5281 gaacaaaaat ggtcgtctct atgtttaaaa caccacacac acatatacca aaactgcata
     5341 ctcacttatt catgtgaaaa tcactgcttc tttgtaaaat attacgtaac atctaccatg
     5401 atattctaca gaaatgctgt acttgaggtt atctggtttg ctggagagat attaacttag
     5461 caaaaattac ttttataaaa ttgaaaggaa aaagaccaat acatcaactt aaattgcagg
     5521 agtttatgta gctgctttct ctgtagttta aaaagcaatg cataaatgca tactcactat
     5581 ccttggaact taataccagc tcatctatag agcaccttct taaagacgat gtactgatgt
     5641 aaggttttgt aaatttctaa actgttttaa acgggatatt atcttttgca ataaacttac
     5701 atattttttc taggt
//
