LOCUS       NM_006949               1885 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens syntaxin binding protein 2 (STXBP2), transcript
            variant 1, mRNA.
ACCESSION   NM_006949
VERSION     NM_006949.4
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 1885)
  AUTHORS   Xinh,P.T., Chuong,H.Q., Diem,T.P.H., Nguyen,T.M., Van,N.D., Mai
            Anh,N.H., Nghia,H. and Vu,H.A.
  TITLE     Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in
            Vietnamese patients with hemophagocytic lymphohistiocytosis
  JOURNAL   Int J Lab Hematol 43 (6), 1524-1530 (2021)
   PUBMED   34339548
  REMARK    GeneRIF: Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2
            genes in Vietnamese patients with hemophagocytic
            lymphohistiocytosis.
REFERENCE   2  (bases 1 to 1885)
  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   3  (bases 1 to 1885)
  AUTHORS   Benavides,N., Spessott,W.A., Sanmillan,M.L., Vargas,M.,
            Livingston,M.S., Erickson,N., Pozos,T.C., McCormick,M.E.,
            Scharrig,E., Messinger,Y.H. and Giraudo,C.G.
  TITLE     STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic
            Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical
            Role of STXBP2 Domain 2 on Granule Exocytosis
  JOURNAL   Front Immunol 11, 545414 (2020)
   PUBMED   33162974
  REMARK    GeneRIF: STXBP2-R190C Variant in a Patient With Neonatal
            Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency
            Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1885)
  AUTHORS   Akyol,S., Ozcan,A., Sekine,T., Chiang,S.C.C., Yilmaz,E.,
            Karakurkcu,M., Patiroglu,T., Bryceson,Y. and Unal,E.
  TITLE     Different Clinical Presentation of 3 Children With Familial
            Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations
  JOURNAL   J Pediatr Hematol Oncol 42 (7), e627-e629 (2020)
   PUBMED   31651726
  REMARK    GeneRIF: Different Clinical Presentation of 3 Children With
            Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
REFERENCE   5  (bases 1 to 1885)
  AUTHORS   Mosa,M.H., Nicolle,O., Maschalidi,S., Sepulveda,F.E.,
            Bidaud-Meynard,A., Menche,C., Michels,B.E., Michaux,G., de Saint
            Basile,G. and Farin,H.F.
  TITLE     Dynamic Formation of Microvillus Inclusions During Enterocyte
            Differentiation in Munc18-2-Deficient Intestinal Organoids
  JOURNAL   Cell Mol Gastroenterol Hepatol 6 (4), 477-493.e1 (2018)
   PUBMED   30364784
  REMARK    GeneRIF: Loss of Munc18-2/Stxbp2 recapitulated the pathologic
            features observed in patients with MUNC18-2 deficiency.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1885)
  AUTHORS   Tellam,J.T., Macaulay,S.L., McIntosh,S., Hewish,D.R., Ward,C.W. and
            James,D.E.
  TITLE     Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes.
            Putative role in insulin-dependent movement of GLUT-4
  JOURNAL   J Biol Chem 272 (10), 6179-6186 (1997)
   PUBMED   9045631
REFERENCE   7  (bases 1 to 1885)
  AUTHORS   Ziegler,S.F., Mortrud,M.T., Swartz,A.R., Baker,E., Sutherland,G.R.,
            Burmeister,M. and Mulligan,J.T.
  TITLE     Molecular characterization of a nonneuronal human UNC18 homolog
  JOURNAL   Genomics 37 (1), 19-23 (1996)
   PUBMED   8921365
REFERENCE   8  (bases 1 to 1885)
  AUTHORS   Ibaraki,K., Horikawa,H.P., Morita,T., Mori,H., Sakimura,K.,
            Mishina,M., Saisu,H. and Abe,T.
  TITLE     Identification of four different forms of syntaxin 3
  JOURNAL   Biochem Biophys Res Commun 211 (3), 997-1005 (1995)
   PUBMED   7598732
REFERENCE   9  (bases 1 to 1885)
  AUTHORS   Hata,Y. and Sudhof,T.C.
  TITLE     A novel ubiquitous form of Munc-18 interacts with multiple
            syntaxins. Use of the yeast two-hybrid system to study interactions
            between proteins involved in membrane traffic
  JOURNAL   J Biol Chem 270 (22), 13022-13028 (1995)
   PUBMED   7768895
REFERENCE   10 (bases 1 to 1885)
  AUTHORS   Zhang,K., Astigarraga,I., Bryceson,Y., Lehmberg,K., Machowicz,R.,
            Marsh,R., Sieni,E., Wang,Z. and Nichols,K.E.
  TITLE     Familial Hemophagocytic Lymphohistiocytosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301617
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA431480.1, AK222967.1 and
            BC002869.2.
            
            On Nov 23, 2018 this sequence version replaced NM_006949.3.
            
            Summary: This gene encodes a member of the STXBP/unc-18/SEC1
            family. The encoded protein is involved in intracellular
            trafficking, control of SNARE (soluble NSF attachment protein
            receptor) complex assembly, and the release of cytotoxic granules
            by natural killer cells. Mutations in this gene are associated with
            familial hemophagocytic lymphohistiocytosis. Alternatively spliced
            transcript variants encoding different isoforms have been noted for
            this gene. [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the coding region, compared to variant 3. The
            encoded isoform (a) is shorter than isoform c.
            
            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 :: SRR5189661.145586.1,
                                           SRR3476690.85116.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221283.10/ ENSP00000221283.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA431480.1         6-19
            15-1482             AK222967.1         1-1468
            1483-1803           BC002869.2         1457-1777
            1804-1885           AK222967.1         1790-1871
FEATURES             Location/Qualifiers
     source          1..1885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1885
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /note="syntaxin binding protein 2"
                     /db_xref="GeneID:6813"
                     /db_xref="HGNC:HGNC:11445"
                     /db_xref="MIM:601717"
     exon            1..77
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1822
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /note="isoform a is encoded by transcript variant 1;
                     protein unc-18 homolog B"
                     /codon_start=1
                     /product="syntaxin-binding protein 2 isoform a"
                     /protein_id="NP_008880.2"
                     /db_xref="CCDS:CCDS12181.1"
                     /db_xref="GeneID:6813"
                     /db_xref="HGNC:HGNC:11445"
                     /db_xref="MIM:601717"
                     /translation="MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSC
                     CKMSDILAEGITIVEDINKRREPIPSLEAIYLLSPTEKSVQALIKDFQGTPTFTYKAA
                     HIFFTDTCPEPLFSELGRSRLAKVVKTLKEIHLAFLPYEAQVFSLDAPHSTYNLYCPF
                     RAEERTRQLEVLAQQIATLCATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPS
                     LGEGPEKTRSQLLIMDRAADPVSPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEARE
                     KAVLLDEDDDLWVELRHMHIADVSKKVTELLRTFCESKRLTTDKANIKDLSQILKKMP
                     QYQKELNKYSTHLHLADDCMKHFKGSVEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPV
                     LLDAAVPAYDKIRVLLLYILLRNGVSEENLAKLIQHANVQAHSSLIRNLEQLGGTVTN
                     PGGSGTSSRLEPRERMEPTYQLSRWTPVIKDVMEDAVEDRLDRNLWPFVSDPAPTASS
                     QAAVSARFGHWHKNKAGIEARAGPRLIVYVMGGVAMSEMRAAYEVTRATEGKWEVLIG
                     SSHILTPTRFLDDLKALDKKLEDIALP"
     exon            78..127
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            128..209
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            210..286
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            287..365
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            366..469
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            470..618
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            619..703
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            704..834
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            835..942
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1000
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1066
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1147
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1286
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1287..1396
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1492
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1578
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1736
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..1885
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1860..1865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /note="hexamer: AATAAA"
     polyA_site      1885
                     /gene="STXBP2"
                     /gene_synonym="FHL5; Hunc18b; MUNC18-2; pp10122; unc-18B;
                     UNC18-2; UNC18B"
                     /note="major polyA site"
ORIGIN      
        1 gggacacacc cggaagcggc ggcggcgccc ctcggggaag atggcgccct cggggctgaa
       61 ggcggtggtg ggggaaaaaa ttctgagcgg agttattcgg agtgtcaaga aggatgggga
      121 gtggaaggtg cttatcatgg atcacccaag catgcgcatc ttgtcttcct gctgcaaaat
      181 gtcagatatc ctggctgagg gcatcaccat tgttgaagac atcaacaaac ggcgggaacc
      241 cattcccagt ctggaggcca tttatttgct gagccccacg gagaagtcgg ttcaggccct
      301 gatcaaagac ttccagggga ccccgacttt cacctacaaa gcggcccata tcttcttcac
      361 cgacacctgc cccgagcccc tgttcagtga gctaggccgc tctcgtctgg caaaggtggt
      421 gaagacgttg aaggagattc accttgcctt cctcccctac gaggcccagg tgttctccct
      481 cgatgctccc cacagcacct acaacctcta ctgccccttc cgggcagagg agcgcacgcg
      541 gcagctcgag gtgctggccc agcagattgc cacgctgtgc gccaccctgc aggagtaccc
      601 ggccatccgc taccgcaagg gcccagagga cacagcccag ttggcccacg ccgtcctggc
      661 caagctgaac gccttcaagg cagacactcc cagtctgggc gagggcccag agaaaacccg
      721 ctcccagctg ctgataatgg accgggcagc tgaccccgtg tccccactac tgcatgagct
      781 cacgttccag gccatggcgt atgatctgct ggacatagag caggacacat acaggtatga
      841 gaccaccggg ctgagcgagg cgcgggagaa ggccgtcttg ctggacgagg acgatgactt
      901 gtgggtggag cttcgccaca tgcatatcgc agatgtgtcc aagaaggtca cggagctcct
      961 gaggaccttc tgtgagagca agaggctgac cacggacaag gcgaacatca aagacctatc
     1021 ccagatcctg aaaaagatgc cgcagtacca gaaggagctg aataagtatt ctacgcacct
     1081 gcatctagca gatgattgta tgaagcactt caagggctcg gtggagaagc tgtgtagtgt
     1141 ggagcaggac ctggccatgg gctccgacgc agagggggag aagatcaagg actccatgaa
     1201 gctgatcgtt ccggtgctgc tggacgcggc ggtgcccgcc tacgacaaga tccgggtcct
     1261 gctgctctac atcctccttc ggaatggtgt gagtgaggag aacctggcca agctgatcca
     1321 gcatgccaat gtacaggcgc acagcagcct catccgtaac ctggagcagc tgggaggcac
     1381 tgtcaccaac cccgggggct cggggacctc cagccggctg gagccgagag aacgcatgga
     1441 gcccacctat cagctgtccc gctggacccc ggtcatcaag gatgtaatgg aggacgccgt
     1501 ggaggaccgg ctggacagga acctgtggcc cttcgtatcc gaccccgccc ccacggccag
     1561 ctcccaggcc gctgtcagtg cccgcttcgg tcactggcac aagaacaagg ctggcataga
     1621 agcccgggcg ggcccccggc tcatcgtgta tgtcatgggc ggtgtggcca tgtcagagat
     1681 gagggccgcc tacgaggtga ccagggccac cgagggcaag tgggaggtgc tcattggctc
     1741 ctcacacatc ctcaccccga cccgcttcct ggatgacctg aaggcactgg acaagaagct
     1801 ggaggacatt gccctgccct gacccctggc cccgccccct acccctccct ttccagagaa
     1861 ataaactctt cccgtcgctc tgcca
//
