DCDC2_MOUSE
ID DCDC2_MOUSE Reviewed; 475 AA.
AC Q5DU00; Q5SZU0; Q80Y99;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Doublecortin domain-containing protein 2;
GN Name=Dcdc2; Synonyms=Dcdc2a, Kiaa1154;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RA Okazaki N., Kikuno R.F., Ohara R., Inamoto S., Nagase T., Ohara O.,
RA Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene. The
RT complete nucleotide sequences of mouse KIAA-homologous cDNAs identified by
RT screening of terminal sequences of cDNA clones randomly sampled from size-
RT fractionated libraries.";
RL Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Olfactory epithelium;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Pancreas;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP DISRUPTION PHENOTYPE.
RX PubMed=25557784; DOI=10.1016/j.ajhg.2014.12.002;
RA Schueler M., Braun D.A., Chandrasekar G., Gee H.Y., Klasson T.D.,
RA Halbritter J., Bieder A., Porath J.D., Airik R., Zhou W., LoTurco J.J.,
RA Che A., Otto E.A., Boeckenhauer D., Sebire N.J., Honzik T., Harris P.C.,
RA Koon S.J., Gunay-Aygun M., Saunier S., Zerres K., Bruechle N.O.,
RA Drenth J.P., Pelletier L., Tapia-Paez I., Lifton R.P., Giles R.H., Kere J.,
RA Hildebrandt F.;
RT "DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt
RT signaling.";
RL Am. J. Hum. Genet. 96:81-92(2015).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=25601850; DOI=10.1093/hmg/ddv009;
RA Grati M., Chakchouk I., Ma Q., Bensaid M., Desmidt A., Turki N., Yan D.,
RA Baanannou A., Mittal R., Driss N., Blanton S., Farooq A., Lu Z., Liu X.Z.,
RA Masmoudi S.;
RT "A missense mutation in DCDC2 causes human recessive deafness DFNB66,
RT likely by interfering with sensory hair cell and supporting cell cilia
RT length regulation.";
RL Hum. Mol. Genet. 24:2482-2491(2015).
CC -!- FUNCTION: Protein that plays a role in the inhibition of canonical Wnt
CC signaling pathway (By similarity). May be involved in neuronal
CC migration during development of the cerebral neocortex (By similarity).
CC Involved in the control of ciliogenesis and ciliary length (By
CC similarity). {ECO:0000250|UniProtKB:D3ZR10,
CC ECO:0000250|UniProtKB:Q9UHG0}.
CC -!- SUBUNIT: Interacts with DVL1, DVL2 and DVL3.
CC {ECO:0000250|UniProtKB:Q9UHG0}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q9UHG0}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q9UHG0}. Cell projection, kinocilium
CC {ECO:0000250|UniProtKB:D3ZR10}. Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:D3ZR10}. Note=Localizes to the ciliary axoneme
CC and to mitotic spindle fibers in a cell-cycle-dependent manner.
CC {ECO:0000250|UniProtKB:Q9UHG0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5DU00-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5DU00-2; Sequence=VSP_014672, VSP_014673;
CC -!- TISSUE SPECIFICITY: Expressed in hair cells of the inner ear.
CC {ECO:0000269|PubMed:25601850}.
CC -!- DISRUPTION PHENOTYPE: Animals develop periportal hepatic fibrosis with
CC biliary duct proliferation at age 11 months.
CC {ECO:0000269|PubMed:25557784}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD90429.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK220370; BAD90429.1; ALT_INIT; mRNA.
DR EMBL; AL589735; CAI24561.1; -; Genomic_DNA.
DR EMBL; BC045136; AAH45136.1; -; mRNA.
DR CCDS; CCDS26386.2; -. [Q5DU00-1]
DR CCDS; CCDS56873.1; -. [Q5DU00-2]
DR RefSeq; NP_001182546.1; NM_001195617.1. [Q5DU00-2]
DR RefSeq; NP_808245.2; NM_177577.3.
DR AlphaFoldDB; Q5DU00; -.
DR SMR; Q5DU00; -.
DR CORUM; Q5DU00; -.
DR STRING; 10090.ENSMUSP00000063650; -.
DR PhosphoSitePlus; Q5DU00; -.
DR MaxQB; Q5DU00; -.
DR PaxDb; Q5DU00; -.
DR PRIDE; Q5DU00; -.
DR ProteomicsDB; 279175; -. [Q5DU00-1]
DR ProteomicsDB; 279176; -. [Q5DU00-2]
DR Antibodypedia; 25259; 254 antibodies from 28 providers.
DR Ensembl; ENSMUST00000036932; ENSMUSP00000047641; ENSMUSG00000035910. [Q5DU00-2]
DR GeneID; 195208; -.
DR KEGG; mmu:195208; -.
DR UCSC; uc007pwv.1; mouse. [Q5DU00-2]
DR CTD; 195208; -.
DR MGI; MGI:2652818; Dcdc2a.
DR VEuPathDB; HostDB:ENSMUSG00000035910; -.
DR eggNOG; KOG3757; Eukaryota.
DR GeneTree; ENSGT00940000159377; -.
DR InParanoid; Q5DU00; -.
DR OrthoDB; 894392at2759; -.
DR PhylomeDB; Q5DU00; -.
DR TreeFam; TF338406; -.
DR BioGRID-ORCS; 195208; 0 hits in 71 CRISPR screens.
DR ChiTaRS; Dcdc2a; mouse.
DR PRO; PR:Q5DU00; -.
DR Proteomes; UP000000589; Chromosome 13.
DR RNAct; Q5DU00; protein.
DR Bgee; ENSMUSG00000035910; Expressed in metanephric cortical collecting duct and 116 other tissues.
DR ExpressionAtlas; Q5DU00; baseline and differential.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0034451; C:centriolar satellite; ISO:MGI.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; ISO:MGI.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0060091; C:kinocilium; ISS:UniProtKB.
DR GO; GO:0005874; C:microtubule; IBA:GO_Central.
DR GO; GO:0015630; C:microtubule cytoskeleton; ISO:MGI.
DR GO; GO:0005815; C:microtubule organizing center; IBA:GO_Central.
DR GO; GO:0072686; C:mitotic spindle; ISO:MGI.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0019894; F:kinesin binding; ISO:MGI.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0048813; P:dendrite morphogenesis; IGI:MGI.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR GO; GO:0001764; P:neuron migration; IGI:MGI.
DR GO; GO:0019228; P:neuronal action potential; IMP:MGI.
DR GO; GO:0045880; P:positive regulation of smoothened signaling pathway; ISO:MGI.
DR GO; GO:1902017; P:regulation of cilium assembly; ISS:UniProtKB.
DR GO; GO:0030111; P:regulation of Wnt signaling pathway; ISS:UniProtKB.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR GO; GO:0035249; P:synaptic transmission, glutamatergic; IMP:MGI.
DR GO; GO:0008542; P:visual learning; IMP:MGI.
DR Gene3D; 3.10.20.230; -; 2.
DR InterPro; IPR033036; DCDC2.
DR InterPro; IPR003533; Doublecortin_dom.
DR InterPro; IPR036572; Doublecortin_dom_sf.
DR PANTHER; PTHR23004:SF5; PTHR23004:SF5; 1.
DR Pfam; PF03607; DCX; 2.
DR SMART; SM00537; DCX; 2.
DR SUPFAM; SSF89837; SSF89837; 2.
DR PROSITE; PS50309; DC; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Neurogenesis; Phosphoprotein; Reference proteome;
KW Repeat.
FT CHAIN 1..475
FT /note="Doublecortin domain-containing protein 2"
FT /id="PRO_0000079805"
FT DOMAIN 17..100
FT /note="Doublecortin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00072"
FT DOMAIN 139..221
FT /note="Doublecortin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00072"
FT REGION 234..475
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 251..272
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 273..292
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 312..361
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 378..409
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 422..438
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 453..475
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 270
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:D3ZR10"
FT VAR_SEQ 308..368
FT /note="EGIFKAGAERSETRGAAEVQEDEDTQVEVPVDQRPAEIVDEEEDGEKTSKDA
FT NQKEDFSAM -> WLIKVERDTCLRPQLDGNRNRVTALPPYPWSIHTRHMWDAPGEDRW
FT KKVTNKAQPTYGHSM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014672"
FT VAR_SEQ 369..475
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014673"
FT CONFLICT 398
FT /note="S -> A (in Ref. 2; CAI24561)"
FT /evidence="ECO:0000305"
FT CONFLICT 424
FT /note="P -> S (in Ref. 2; CAI24561)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 475 AA; 51953 MW; B4195FC005B62F4A CRC64;
MNGPSSRSSH LSQPVVKSVL VYRNGDPFFA GRRVVIHEKK VSSFDVFLKE VTGGVQAPFG
AVRNIYTPRT GHRIRKLDQI ESGGNYVAGG PEAFKKLNYL DIGEIKKRPM EAVNTEVKPV
IHSRINVSAR FRKSLHEPCT IFLIANGDLI SPASRLLIPK KALNQWDHVL QMVTEKITLR
SGAVHRLYTL EGKLVESGAE LENGQFYVAV GRDKFKRLPY SELLFDKSAM RRPYGQKASS
LPPMVGSRKS KGSGNYRQSK STIGSSDNSS PQPLKRKGKK DSNSEKPTKV KQSVKSKTSH
QAIPDNGEGI FKAGAERSET RGAAEVQEDE DTQVEVPVDQ RPAEIVDEEE DGEKTSKDAN
QKEDFSAMNG ETEDRGGSKA AGTSEQEEGI PDHGEKKSSP SRVNGGTDEE NGEELDQVAE
ELQPTEDEKG KAEGDNSGQD EAGLDAQRPP RPEVTVTSPQ ENEENEANKA SSAVA
