LOCUS       NM_012110               1109 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens cysteine rich hydrophobic domain 2 (CHIC2), mRNA.
ACCESSION   NM_012110
VERSION     NM_012110.4
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 1109)
  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 1109)
  AUTHORS   Kovacs,I.A., Luck,K., Spirohn,K., Wang,Y., Pollis,C., Schlabach,S.,
            Bian,W., Kim,D.K., Kishore,N., Hao,T., Calderwood,M.A., Vidal,M.
            and Barabasi,A.L.
  TITLE     Network-based prediction of protein interactions
  JOURNAL   Nat Commun 10 (1), 1240 (2019)
   PUBMED   30886144
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1109)
  AUTHORS   Wain,L.V., Verwoert,G.C., O'Reilly,P.F., Shi,G., Johnson,T.,
            Johnson,A.D., Bochud,M., Rice,K.M., Henneman,P., Smith,A.V.,
            Ehret,G.B., Amin,N., Larson,M.G., Mooser,V., Hadley,D., Dorr,M.,
            Bis,J.C., Aspelund,T., Esko,T., Janssens,A.C., Zhao,J.H., Heath,S.,
            Laan,M., Fu,J., Pistis,G., Luan,J., Arora,P., Lucas,G., Pirastu,N.,
            Pichler,I., Jackson,A.U., Webster,R.J., Zhang,F., Peden,J.F.,
            Schmidt,H., Tanaka,T., Campbell,H., Igl,W., Milaneschi,Y.,
            Hottenga,J.J., Vitart,V., Chasman,D.I., Trompet,S.,
            Bragg-Gresham,J.L., Alizadeh,B.Z., Chambers,J.C., Guo,X.,
            Lehtimaki,T., Kuhnel,B., Lopez,L.M., Polasek,O., Boban,M.,
            Nelson,C.P., Morrison,A.C., Pihur,V., Ganesh,S.K., Hofman,A.,
            Kundu,S., Mattace-Raso,F.U., Rivadeneira,F., Sijbrands,E.J.,
            Uitterlinden,A.G., Hwang,S.J., Vasan,R.S., Wang,T.J., Bergmann,S.,
            Vollenweider,P., Waeber,G., Laitinen,J., Pouta,A., Zitting,P.,
            McArdle,W.L., Kroemer,H.K., Volker,U., Volzke,H., Glazer,N.L.,
            Taylor,K.D., Harris,T.B., Alavere,H., Haller,T., Keis,A.,
            Tammesoo,M.L., Aulchenko,Y., Barroso,I., Khaw,K.T., Galan,P.,
            Hercberg,S., Lathrop,M., Eyheramendy,S., Org,E., Sober,S., Lu,X.,
            Nolte,I.M., Penninx,B.W., Corre,T., Masciullo,C., Sala,C.,
            Groop,L., Voight,B.F., Melander,O., O'Donnell,C.J., Salomaa,V.,
            d'Adamo,A.P., Fabretto,A., Faletra,F., Ulivi,S., Del Greco,F.,
            Facheris,M., Collins,F.S., Bergman,R.N., Beilby,J.P., Hung,J.,
            Musk,A.W., Mangino,M., Shin,S.Y., Soranzo,N., Watkins,H., Goel,A.,
            Hamsten,A., Gider,P., Loitfelder,M., Zeginigg,M., Hernandez,D.,
            Najjar,S.S., Navarro,P., Wild,S.H., Corsi,A.M., Singleton,A., de
            Geus,E.J., Willemsen,G., Parker,A.N., Rose,L.M., Buckley,B.,
            Stott,D., Orru,M., Uda,M., van der Klauw,M.M., Zhang,W., Li,X.,
            Scott,J., Chen,Y.D., Burke,G.L., Kahonen,M., Viikari,J., Doring,A.,
            Meitinger,T., Davies,G., Starr,J.M., Emilsson,V., Plump,A.,
            Lindeman,J.H., Hoen,P.A., Konig,I.R., Felix,J.F., Clarke,R.,
            Hopewell,J.C., Ongen,H., Breteler,M., Debette,S., Destefano,A.L.,
            Fornage,M., Mitchell,G.F., Smith,N.L., Holm,H., Stefansson,K.,
            Thorleifsson,G., Thorsteinsdottir,U., Samani,N.J., Preuss,M.,
            Rudan,I., Hayward,C., Deary,I.J., Wichmann,H.E., Raitakari,O.T.,
            Palmas,W., Kooner,J.S., Stolk,R.P., Jukema,J.W., Wright,A.F.,
            Boomsma,D.I., Bandinelli,S., Gyllensten,U.B., Wilson,J.F.,
            Ferrucci,L., Schmidt,R., Farrall,M., Spector,T.D., Palmer,L.J.,
            Tuomilehto,J., Pfeufer,A., Gasparini,P., Siscovick,D.,
            Altshuler,D., Loos,R.J., Toniolo,D., Snieder,H., Gieger,C.,
            Meneton,P., Wareham,N.J., Oostra,B.A., Metspalu,A., Launer,L.,
            Rettig,R., Strachan,D.P., Beckmann,J.S., Witteman,J.C., Erdmann,J.,
            van Dijk,K.W., Boerwinkle,E., Boehnke,M., Ridker,P.M.,
            Jarvelin,M.R., Chakravarti,A., Abecasis,G.R., Gudnason,V.,
            Newton-Cheh,C., Levy,D., Munroe,P.B., Psaty,B.M., Caulfield,M.J.,
            Rao,D.C., Tobin,M.D., Elliott,P. and van Duijn,C.M.
  CONSRTM   LifeLines Cohort Study; EchoGen consortium; AortaGen Consortium;
            CHARGE Consortium Heart Failure Working Group; KidneyGen
            consortium; CKDGen consortium; Cardiogenics consortium; CardioGram
  TITLE     Genome-wide association study identifies six new loci influencing
            pulse pressure and mean arterial pressure
  JOURNAL   Nat Genet 43 (10), 1005-1011 (2011)
   PUBMED   21909110
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1109)
  AUTHORS   Fink,S.R., Belongie,K.J., Paternoster,S.F., Smoley,S.A.,
            Pardanani,A.D., Tefferi,A., Van Dyke,D.L. and Ketterling,R.P.
  TITLE     Validation of a new three-color fluorescence in situ hybridization
            (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and
            PDGFRA translocations
  JOURNAL   Leuk Res 33 (6), 843-846 (2009)
   PUBMED   19118897
  REMARK    GeneRIF: studied a new FISH method to detect CHIC2 deletion,
            FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with
            myeloid neoplasms associated with eosinophilia
REFERENCE   5  (bases 1 to 1109)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   6  (bases 1 to 1109)
  AUTHORS   Pardanani,A., Ketterling,R.P., Brockman,S.R., Flynn,H.C.,
            Paternoster,S.F., Shearer,B.M., Reeder,T.L., Li,C.Y., Cross,N.C.,
            Cools,J., Gilliland,D.G., Dewald,G.W. and Tefferi,A.
  TITLE     CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in
            systemic mastocytosis associated with eosinophilia and predicts
            response to imatinib mesylate therapy
  JOURNAL   Blood 102 (9), 3093-3096 (2003)
   PUBMED   12842979
  REMARK    GeneRIF: used fluorescence in situ hybridization to detect deletion
            of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA
            fusion and was observed in bone marrow cells for 3 of 5 patients
            with systemic mast cell disease associated with eosinophilia
REFERENCE   7  (bases 1 to 1109)
  AUTHORS   Cools,J., Mentens,N. and Marynen,P.
  TITLE     A new family of small, palmitoylated, membrane-associated proteins,
            characterized by the presence of a cysteine-rich hydrophobic motif
  JOURNAL   FEBS Lett 492 (3), 204-209 (2001)
   PUBMED   11257495
REFERENCE   8  (bases 1 to 1109)
  AUTHORS   Cools,J., Bilhou-Nabera,C., Wlodarska,I., Cabrol,C., Talmant,P.,
            Bernard,P., Hagemeijer,A. and Marynen,P.
  TITLE     Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias
            with a t(4;12)(q11-q12;p13)
  JOURNAL   Blood 94 (5), 1820-1824 (1999)
   PUBMED   10477709
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA746525.1, BC034691.1 and
            AC110792.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_012110.3.
            
            Summary: This gene encodes a member of the CHIC family of proteins.
            The encoded protein contains a cysteine-rich hydrophobic (CHIC)
            motif, and is localized to vesicular structures and the plasma
            membrane. This gene is associated with some cases of acute myeloid
            leukemia. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.495205.1,
                                           SRR1660803.30988.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263921.8/ ENSP00000263921.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                DA746525.1         44-88
            46-932              BC034691.1         1-887
            933-933             AC110792.3         78497-78497         c
            934-1109            BC034691.1         889-1064
FEATURES             Location/Qualifiers
     source          1..1109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..1109
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /note="cysteine rich hydrophobic domain 2"
                     /db_xref="GeneID:26511"
                     /db_xref="HGNC:HGNC:1935"
                     /db_xref="MIM:604332"
     exon            1..424
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /inference="alignment:Splign:2.1.0"
     exon            425..479
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /inference="alignment:Splign:2.1.0"
     exon            480..635
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /inference="alignment:Splign:2.1.0"
     exon            636..692
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /inference="alignment:Splign:2.1.0"
     exon            693..752
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /inference="alignment:Splign:2.1.0"
     exon            753..1109
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /note="hexamer: AATACA"
     polyA_site      1109
                     /gene="CHIC2"
                     /gene_synonym="BTL"
                     /note="major polyA site"
ORIGIN      
        1 ggtttcctga gttgctgctg ctgcggcggc ggcagcggcg tctgtgcttg tggaggtgtc
       61 ggcctctggg cggatgttga cattgtgttg ttgttattgc tgatggtaat ggcggcggcg
      121 gtggcggcga cggtccagac cccatcccct ctgtagccgg agccgagaca gccgacagcg
      181 aactccgcgg cctcggagcc ggcggcagcg gcgactcccc tcagcctccg ccgcctcgcc
      241 cgccggtacc ccggcgccaa ccccgggagt caggcccttt gggcagggga gctcggaggc
      301 tcaggatggc ggatttcgac gaaatctatg aggaagagga ggacgaggag cgggccctgg
      361 aggagcagct gctcaagtac tcgccggacc cggtggtcgt ccgcggctcc ggtcacgtca
      421 ccgtatttgg actgagcaac aaatttgaat ctgaattccc ttcttcatta actggaaaag
      481 tagctcctga agaatttaaa gccagcatca acagagttaa cagttgtctt aagaagaacc
      541 ttcctgttaa tgtacgttgg ctactttgtg gctgcctttg ttgctgctgc acattaggtt
      601 gcagtatgtg gccagttatt tgcctcagta aaagaacacg aagatcgatt gagaagttat
      661 tagaatggga aaacaatagg ttataccaca agctgtgctt gcattggaga ctgagcaaaa
      721 ggaaatgtga aacgaataac atgatggaat atgtcatcct catagaattt ttaccaaaga
      781 caccgatttt tcgaccagat tagcatttac tttatttata gagactttcc aagtatgttg
      841 tctttccaat ggtgccttgc ttggtgctct cctggtggtg acataacatt ggttctacag
      901 aatcgtgtgg tgtttttttt gtttttgttt ttgttttttt tttaaataac cgcatgttct
      961 aagtgtgcat ttttgtcaat ctttgcaaca gttatttcat acagatgttt aatacttaag
     1021 ttattgtgct cttttctgtt atgtattctg attttcaagg attacttttt tgtattatca
     1081 aaaaaataca tttgaactta gcataaaaa
//
