LOCUS       NM_001289               2623 bp    mRNA    linear   PRI 28-APR-2025
DEFINITION  Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.
ACCESSION   NM_001289
VERSION     NM_001289.6
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 2623)
  AUTHORS   Ozaki,S., Umakoshi,A., Yano,H., Ohsumi,S., Sumida,Y., Hayase,E.,
            Usa,E., Islam,A., Choudhury,M.E., Nishi,Y., Yamashita,D.,
            Ohtsuka,Y., Nishikawa,M., Inoue,A., Suehiro,S., Kuwabara,J.,
            Watanabe,H., Takada,Y., Watanabe,Y., Nakano,I., Kunieda,T. and
            Tanaka,J.
  TITLE     Chloride intracellular channel protein 2 is secreted and inhibits
            MMP14 activity, while preventing tumor cell invasion and metastasis
  JOURNAL   Neoplasia 23 (8), 754-765 (2021)
   PUBMED   34229297
  REMARK    GeneRIF: Chloride intracellular channel protein 2 is secreted and
            inhibits MMP14 activity, while preventing tumor cell invasion and
            metastasis.
REFERENCE   2  (bases 1 to 2623)
  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   3  (bases 1 to 2623)
  AUTHORS   Zeng,J., Li,Z., Lui,E.Y., Lam,S.H. and Swaminathan,K.
  TITLE     Tilapia and human CLIC2 structures are highly conserved
  JOURNAL   Biochem Biophys Res Commun 495 (2), 1752-1757 (2018)
   PUBMED   29198705
  REMARK    GeneRIF: We have determined the crystal structure of soluble Clic2
            from the euryhaline teleost fish Oreochromis mossambicus.
            Structural comparison of tilapia and human CLIC2 with other CLICs
            shows that these proteins are highly conserved.
REFERENCE   4  (bases 1 to 2623)
  AUTHORS   Takano,K., Liu,D., Tarpey,P., Gallant,E., Lam,A., Witham,S.,
            Alexov,E., Chaubey,A., Stevenson,R.E., Schwartz,C.E., Board,P.G.
            and Dulhunty,A.F.
  TITLE     An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation
            enhancing ryanodine receptor channel activity
  JOURNAL   Hum Mol Genet 21 (20), 4497-4507 (2012)
   PUBMED   22814392
  REMARK    GeneRIF: a vital role for the CLIC2 protein in maintaining normal
            cognitive function via its interaction with RyRs in the brain.
REFERENCE   5  (bases 1 to 2623)
  AUTHORS   Cromer,B.A., Gorman,M.A., Hansen,G., Adams,J.J., Coggan,M.,
            Board,P.G. and Parker,M.W.
  TITLE     Expression, purification, crystallization and preliminary X-ray
            diffraction analysis of chloride intracellular channel 2 (CLIC2)
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 63 (Pt 11),
            961-963 (2007)
   PUBMED   18007051
  REMARK    GeneRIF: Human CLIC2 was crystallized in 2 different forms, in
            presence of GSSH.  Form A displayed P2(1)2(1)2(1) symmetry, with
            unit-cell parameters a=44.0, b=74.7, c=79.8 A. Form B displayed
            P2(1) symmetry, with unit-cell parameters a=36.0, b=66.9, c=44.1 A.
REFERENCE   6  (bases 1 to 2623)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 2623)
  AUTHORS   Heiss,N.S. and Poustka,A.
  TITLE     Genomic structure of a novel chloride channel gene, CLIC2, in Xq28
  JOURNAL   Genomics 45 (1), 224-228 (1997)
   PUBMED   9339381
REFERENCE   8  (bases 1 to 2623)
  AUTHORS   Rogner,U.C., Heiss,N.S., Kioschis,P., Wiemann,S., Korn,B. and
            Poustka,A.
  TITLE     Transcriptional analysis of the candidate region for incontinentia
            pigmenti (IP2) in Xq28
  JOURNAL   Genome Res 6 (10), 922-934 (1996)
   PUBMED   8908511
REFERENCE   9  (bases 1 to 2623)
  AUTHORS   Ballout,R.A., El-Hattab,A.W., Schaaf,C.P. and Cheung,S.W.
  TITLE     Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26962617
REFERENCE   10 (bases 1 to 2623)
  AUTHORS   Thiemann,A., Grunder,S., Pusch,M. and Jentsch,T.J.
  TITLE     A chloride channel widely expressed in epithelial and
            non-epithelial cells
  JOURNAL   Nature 356 (6364), 57-60 (1992)
   PUBMED   1311421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292785.1, BC022305.1 and
            AC234781.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001289.5.
            
            Summary: This gene encodes a chloride intracellular channel
            protein. Chloride channels are a diverse group of proteins that
            regulate fundamental cellular processes including stabilization of
            cell membrane potential, transepithelial transport, maintenance of
            intracellular pH, and regulation of cell volume. This protein plays
            a role in inhibiting the function of ryanodine receptor 2. A
            mutation in this gene is the cause of an X-linked form of cognitive
            disability. [provided by RefSeq, Jul 2017].
            
            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.
            
            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 :: AK292785.1, SRR1660809.202711.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369449.7/ ENSP00000358460.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-762               AK292785.1         1-762
            763-949             BC022305.1         706-892
            950-2623            AC234781.7         157633-159306
FEATURES             Location/Qualifiers
     source          1..2623
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2623
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="chloride intracellular channel 2"
                     /db_xref="GeneID:1193"
                     /db_xref="HGNC:HGNC:2063"
                     /db_xref="MIM:300138"
     exon            1..244
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..931
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="glutaredoxin-like peroxidase CLIC2;
                     glutaredoxin-like oxidoreductase CLIC2"
                     /codon_start=1
                     /product="chloride intracellular channel protein 2"
                     /protein_id="NP_001280.3"
                     /db_xref="CCDS:CCDS14767.1"
                     /db_xref="GeneID:1193"
                     /db_xref="HGNC:HGNC:2063"
                     /db_xref="MIM:300138"
                     /translation="MSGLRPGTQVDPEIELFVKAGSDGESIGNCPFCQRLFMILWLKG
                     VKFNVTTVDMTRKPEELKDLAPGTNPPFLVYNKELKTDFIKIEEFLEQTLAPPRYPHL
                     SPKYKESFDVGCNLFAKFSAYIKNTQKEANKNFEKSLLKEFKRLDDYLNTPLLDEIDP
                     DSAEEPPVSRRLFLDGDQLTLADCSLLPKLNIIKVAAKKYRDFDIPAEFSGVWRYLHN
                     AYAREEFTHTCPEDKEIENTYANVAKQKS"
     exon            245..354
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /inference="alignment:Splign:2.1.0"
     exon            355..480
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /inference="alignment:Splign:2.1.0"
     exon            481..587
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /inference="alignment:Splign:2.1.0"
     exon            588..769
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /inference="alignment:Splign:2.1.0"
     exon            770..2623
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1083..1088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="hexamer: AATAAT"
     polyA_site      1100
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="major polyA site"
     regulatory      1573..1578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="hexamer: AATAAA"
     polyA_site      1597
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="major polyA site"
     regulatory      1648..1653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="hexamer: AATAAA"
     polyA_site      1671
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="major polyA site"
     regulatory      2602..2607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="hexamer: AATAAA"
     polyA_site      2623
                     /gene="CLIC2"
                     /gene_synonym="CLCNL2; CLIC2b; MRXS32; XAP121"
                     /note="major polyA site"
ORIGIN      
        1 aattttctgc gtcacacctc ttgagagaag agactggctc caggtctgac tcagtccact
       61 acaagctaga cggtcttctt aaagcaccaa cattacttga gtctttggat aaaattgaga
      121 aaagagtcta caagtattgt ggactctaca ggaggcagga ggctgacaac tggcagtaaa
      181 gacaaagatg tcaggcctgc ggcccggcac tcaagtggac cctgagattg agctttttgt
      241 aaaggctgga agtgatggag agagtattgg aaactgtccc ttttgccaac gccttttcat
      301 gatcctctgg cttaaaggag ttaaatttaa tgtgacaact gttgacatga ccagaaagcc
      361 tgaagaacta aaggacttag ccccaggtac caatcctccg ttcctggtgt ataacaagga
      421 gttgaaaaca gacttcatta aaattgagga gtttttagaa caaaccctgg ctcctccaag
      481 gtaccctcac ctgagtccca agtacaagga gtcttttgat gtgggctgta acctctttgc
      541 caagttttct gcatacatta agaatacaca aaaggaggca aataagaatt ttgaaaaatc
      601 tctgctcaaa gaattcaagc gtctggatga ctacttaaac accccacttc tggatgaaat
      661 tgatccagac agtgctgagg aacccccagt ttccagaaga ctattcttgg atggggacca
      721 gctaacactg gctgattgta gcttgttacc caagctgaac attattaaag ttgctgccaa
      781 gaaatatcgt gactttgaca ttccagcaga attctcagga gtctggcgtt atctccacaa
      841 tgcctatgcc cgtgaagaat ttacccacac gtgtcctgaa gacaaagaaa ttgaaaatac
      901 ttacgcaaat gtggctaaac agaagagtta ggagagctct tacaggagac aaggctatat
      961 ttgtgatcag attttactta ttgacatatt agaaaggttt ttgcaaataa gaatatgaaa
     1021 aatactgttt cttctatcca actctcttat gaaaaggaac tctgtatttt ctattagcca
     1081 taaataatct gtccactgta ttttacaggt cttcatactt ttacttaatt ttctttatct
     1141 gtatggcaaa ccactgcaat cctgaatgac atggaaagca tcacaatctt ttgccctttg
     1201 cttgaattcc tggaatgcat acatataagc taaacagatg tctgcagtta taaatgtcat
     1261 aagtagaggt acaatctcac cctgctcctt agaaacattt ccatataaat cgctaaaata
     1321 atttcacatt tttgttagtt taatatatac atgagtttat ttctgatata aataataaat
     1381 acagagagtg agcatatcag agaggcaaat tcttaaagaa tgatttttaa aatcagctct
     1441 aggaagagct caagatcaat tggtcataga acagcatttg acgcctagaa ctatgaccac
     1501 ctcatggtca gagatgagaa tgtagccttt gtgaccagat tatattattt ttaaatgaag
     1561 aagcactcat taaataaaac ataattttaa aaaacaatat aagaaacaaa gtcaactgaa
     1621 tcttttattc atagaaatga aaaggaaaat aaaaactgtg gctgaccaaa aggtcttctt
     1681 gttgtccata aaaggataag gtaaacagtc cttagataat tacaaaactt tctacaaaag
     1741 ttaaaatgtt acattactat acgtattcag attcacttgt taaagtactc ttaaatcatt
     1801 caaatctgga aacaaaagct gaacttaact cttgctccct caaaagagaa acacaagcat
     1861 aagtgcagct tcaaaaaagg aaaatatttt aggctttggt ggaagggtgg agtttagata
     1921 aaatttaaat gaagtagcgt tttaataggt tcaaagaaaa gtaaggcaat gagcaaactc
     1981 aaagtactgt ccttgaaaac catagagtca agataaatgt atagtgtatg gttaggtggc
     2041 agagaaatgc aatcatgttg ataatctttg agatacatcc tgtcatcagt atatttcaga
     2101 atacatgcaa tgcactagca agttacaatt gatagaatac atttgaaatg ttaaatgaaa
     2161 taagccaggc acagaaagac aaacaccaca tgatctcact catatgtgga attttaaaaa
     2221 gttgatctca ctcatatgtg gaattttaaa aagttgatct cacacaagta gagggtagaa
     2281 tcgtggttac caggggctag ggagagaaag aaggcagagg cactgaaaga tgttggtcaa
     2341 tgggtataaa gttacaccta ggaagaataa attttggcat tcaccacagt agggtgacta
     2401 tagcaaataa taatgtagca tgtatttcaa gatagctaga aaagcaggtt tttaaatgtc
     2461 accacaaaga aataacaaat gtttatagtg gtggatatgg taattacgcc tatttgatca
     2521 ttatactgtg tgtacatgca ttgaaacacc acattgtatc ccatatatat gtacaattat
     2581 gtgcccatta tacatttaaa aaataaattt taaaaacctt caa
//
