LOCUS       NP_003379               1046 aa            linear   PRI 29-APR-2025
DEFINITION  CAP-Gly domain-containing linker protein 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_003379
VERSION     NP_003379.4
DBSOURCE    REFSEQ: accession NM_003388.5
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  (residues 1 to 1046)
  AUTHORS   Chapman,N., Greenwald,J., Suddock,J., Xu,D., Markowitz,A.,
            Humphrey,M., Cotter,J.A., Krieger,M.D., Hawes,D. and Ji,J.
  TITLE     Clinical, pathologic, and genomic characteristics of two pediatric
            glioneuronal tumors with a CLIP2::MET fusion
  JOURNAL   Acta Neuropathol Commun 12 (1), 63 (2024)
   PUBMED   38650040
  REMARK    GeneRIF: Clinical, pathologic, and genomic characteristics of two
            pediatric glioneuronal tumors with a CLIP2::MET fusion.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1046)
  AUTHORS   Huang,Z., Xu,Z., Xu,R., Huang,L., Xu,X. and Lai,X.
  TITLE     Whole exome sequencing identifies three novel gene mutations in
            patients with the triad of diabetic ketoacidosis,
            hypertriglyceridemia, and acute pancreatitis
  JOURNAL   J Diabetes 13 (3), 200-210 (2021)
   PUBMED   32734598
  REMARK    GeneRIF: Whole exome sequencing identifies three novel gene
            mutations in patients with the triad of diabetic ketoacidosis,
            hypertriglyceridemia, and acute pancreatitis.
REFERENCE   3  (residues 1 to 1046)
  AUTHORS   Wu,T., Zhang,Q., Wu,S., Hu,W., Zhou,T., Li,K., Liu,D., Gu,H.F.,
            Zheng,H., Zhu,Z., Li,L. and Yang,G.
  TITLE     CILP-2 is a novel secreted protein and associated with insulin
            resistance
  JOURNAL   J Mol Cell Biol 11 (12), 1083-1094 (2019)
   PUBMED   30896018
  REMARK    GeneRIF: CILP-2 is a novel secreted protein and demonstrated that
            circulating CILP-2 levels were elevated in both IGT and nT2DM
            subjects and associated with IR. CILP-2 overexpression promoted
            hepatic IR in HFD-fed mice, increased PEPCK expression and
            suppressed insulin signaling in hepatocytes.
REFERENCE   4  (residues 1 to 1046)
  AUTHORS   Kaiser,J.C., Meckbach,R., Eidemuller,M., Selmansberger,M.,
            Unger,K., Shpak,V., Blettner,M., Zitzelsberger,H. and Jacob,P.
  TITLE     Integration of a radiation biomarker into modeling of thyroid
            carcinogenesis and post-Chernobyl risk assessment
  JOURNAL   Carcinogenesis 37 (12), 1152-1160 (2016)
   PUBMED   27729373
  REMARK    GeneRIF: Cross checking with epidemiological estimates and model
            validation suggests that CLIP2 is a marker of high precision. CLIP2
            leaves an imprint in the epidemiological incidence data which is
            typical for a driver gene.
REFERENCE   5  (residues 1 to 1046)
  AUTHORS   Selmansberger,M., Kaiser,J.C., Hess,J., Guthlin,D., Likhtarev,I.,
            Shpak,V., Tronko,M., Brenner,A., Abend,M., Blettner,M., Unger,K.,
            Jacob,P. and Zitzelsberger,H.
  TITLE     Dose-dependent expression of CLIP2 in post-Chernobyl papillary
            thyroid carcinomas
  JOURNAL   Carcinogenesis 36 (7), 748-756 (2015)
   PUBMED   25957251
  REMARK    GeneRIF: A clear radiation dose-response relationship for the CLIP2
            marker expression in post-Chernobyl papillary thyroid carcinomas
REFERENCE   6  (residues 1 to 1046)
  AUTHORS   Hoogenraad,C.C., Koekkoek,B., Akhmanova,A., Krugers,H.,
            Dortland,B., Miedema,M., van Alphen,A., Kistler,W.M., Jaegle,M.,
            Koutsourakis,M., Van Camp,N., Verhoye,M., van der Linden,A.,
            Kaverina,I., Grosveld,F., De Zeeuw,C.I. and Galjart,N.
  TITLE     Targeted mutation of Cyln2 in the Williams syndrome critical region
            links CLIP-115 haploinsufficiency to neurodevelopmental
            abnormalities in mice
  JOURNAL   Nat Genet 32 (1), 116-127 (2002)
   PUBMED   12195424
  REMARK    Erratum:[Nat Genet 2002 Oct;32(2):331]
REFERENCE   7  (residues 1 to 1046)
  AUTHORS   Akhmanova,A., Hoogenraad,C.C., Drabek,K., Stepanova,T.,
            Dortland,B., Verkerk,T., Vermeulen,W., Burgering,B.M., De
            Zeeuw,C.I., Grosveld,F. and Galjart,N.
  TITLE     Clasps are CLIP-115 and -170 associating proteins involved in the
            regional regulation of microtubule dynamics in motile fibroblasts
  JOURNAL   Cell 104 (6), 923-935 (2001)
   PUBMED   11290329
REFERENCE   8  (residues 1 to 1046)
  AUTHORS   Hoogenraad,C.C., Eussen,B.H., Langeveld,A., van Haperen,R.,
            Winterberg,S., Wouters,C.H., Grosveld,F., De Zeeuw,C.I. and
            Galjart,N.
  TITLE     The murine CYLN2 gene: genomic organization, chromosome
            localization, and comparison to the human gene that is located
            within the 7q11.23 Williams syndrome critical region
  JOURNAL   Genomics 53 (3), 348-358 (1998)
   PUBMED   9799601
REFERENCE   9  (residues 1 to 1046)
  AUTHORS   Ohara,O., Nagase,T., Ishikawa,K., Nakajima,D., Ohira,M., Seki,N.
            and Nomura,N.
  TITLE     Construction and characterization of human brain cDNA libraries
            suitable for analysis of cDNA clones encoding relatively large
            proteins
  JOURNAL   DNA Res 4 (1), 53-59 (1997)
   PUBMED   9179496
REFERENCE   10 (residues 1 to 1046)
  AUTHORS   Osborne,L.R., Martindale,D., Scherer,S.W., Shi,X.M., Huizenga,J.,
            Heng,H.H., Costa,T., Pober,B., Lew,L., Brinkman,J., Rommens,J.,
            Koop,B. and Tsui,L.C.
  TITLE     Identification of genes from a 500-kb region at 7q11.23 that is
            commonly deleted in Williams syndrome patients
  JOURNAL   Genomics 36 (2), 328-336 (1996)
   PUBMED   8812460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005015.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 1, 2019 this sequence version replaced NP_003379.3.
            
            Summary: The protein encoded by this gene belongs to the family of
            cytoplasmic linker proteins, which have been proposed to mediate
            the interaction between specific membranous organelles and
            microtubules. This protein was found to associate with both
            microtubules and an organelle called the dendritic lamellar body.
            This gene is hemizygously deleted in Williams syndrome, a
            multisystem developmental disorder caused by the deletion of
            contiguous genes at 7q11.23. Alternative splicing of this gene
            generates 2 transcript variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038194.2375446.1,
                                           SRR14038196.2287708.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000223398.11/ ENSP00000223398.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1046
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..1046
                     /product="CAP-Gly domain-containing linker protein 2
                     isoform 1"
                     /note="cytoplasmic linker 2; Williams-Beuren syndrome
                     chromosome region 3; Williams-Beuren syndrome chromosome
                     region 4; cytoplasmic linker protein 2; cytoplasmic linker
                     protein 115; williams-Beuren syndrome chromosomal region 3
                     protein; williams-Beuren syndrome chromosomal region 4
                     protein; testicular tissue protein Li 40"
                     /calculated_mol_wt=115707
     Region          1..71
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0H8; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Region          81..145
                     /region_name="CAP_GLY"
                     /note="CAP-Gly domain; pfam01302"
                     /db_xref="CDD:460154"
     Region          143..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Region          195..215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55156; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0H8; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0H8; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Region          221..285
                     /region_name="CAP_GLY"
                     /note="CAP-Gly domain; pfam01302"
                     /db_xref="CDD:460154"
     Region          313..339
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            314
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0H8; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Region          <356..>943
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase Smc [Cell cycle
                     control, cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:440809"
     Site            923
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            973
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0H8; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Site            979
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0H8; propagated from
                     UniProtKB/Swiss-Prot (Q9UDT6.1)"
     Region          1018..1046
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDT6.1)"
     CDS             1..1046
                     /gene="CLIP2"
                     /gene_synonym="CLIP; CLIP-115; CYLN2; WBSCR3; WBSCR4;
                     WSCR3; WSCR4"
                     /coded_by="NM_003388.5:396..3536"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5569.1"
                     /db_xref="GeneID:7461"
                     /db_xref="HGNC:HGNC:2586"
                     /db_xref="MIM:603432"
ORIGIN      
        1 mqkpsglkpp grggkhsspm grtstgsass saavaasske gsplhkqssg pssspaaaaa
       61 pekpgpkaae vgddflgdfv vgervwvngv kpgvvqylge tqfapgqwag vvlddpvgkn
      121 dgavggvryf ecpalqgift rpskltrqpt aegsgsdahs vesltaqnls lhsgtatppl
      181 tsrviplres vlnssvktgn esgsnlsdsg svkrgekdlr lgdrvlvggt ktgvvryvge
      241 tdfakgewcg veldeplgkn dgavagtryf qcppkfglfa pihkvirigf pstspakakk
      301 tkrmamgvsa lthspssssi ssvssvassv ggrpsrsgll tetssryark isgttalqea
      361 lkekqqhieq llaerdlera evakatshic evekeiallk aqheqyvaea eeklqrarll
      421 vesvrkekvd lsnqleeerr kvedlqfrve eesitkgdle tqtqlehari geleqsllle
      481 kaqaerllre ladnrlttva eksrvlqlee eltlrrgeie elqqcllhsg ppppdhpdaa
      541 eilrlrerll saskehqres gvlrdkyeka lkayqaevdk lraanekyaq evaglkdkvq
      601 qatsenmglm dnwkskldsl asdhqksled lkatlnsgpg aqqkeigelk avmegikmeh
      661 qlelgnlqak hdletamhvk ekealreklq eaqeelaglq rhwraqlevq asqhrlelqe
      721 aqdqrrdael rvhelekldv eyrgqaqaie flkeqislae kkmldyerlq raeaqgkqev
      781 eslrekllva enrlqaveal cssqhthmie sndiseetir tketveglqd klnkrdkevt
      841 altsqtemlr aqvsaleskc ksgekkvdal lkekrrleae letvsrkthd asgqlvlisq
      901 ellrkersln elrvlllean rhspgperdl srevhkaewr ikeqklkddi rglrekltgl
      961 dkekslsdqr ryslidrssa pellrlqhql mstedalrda ldqaqqvekl meamrscpdk
     1021 aqtignsgsa ngihqqdkaq kqedkh
//
