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Protein

Doublecortin domain-containing protein 2

Gene

DCDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779).By similarity3 Publications

GO - Molecular functioni

GO - Biological processi

  • cellular defense response Source: ProtInc
  • cilium assembly Source: UniProtKB
  • dendrite morphogenesis Source: GO_Central
  • intracellular signal transduction Source: InterPro
  • neuron migration Source: UniProtKB
  • positive regulation of smoothened signaling pathway Source: GO_Central
  • regulation of cilium assembly Source: UniProtKB
  • regulation of Wnt signaling pathway Source: UniProtKB
  • sensory perception of sound Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation, Neurogenesis

Enzyme and pathway databases

SIGNORiQ9UHG0

Names & Taxonomyi

Protein namesi
Recommended name:
Doublecortin domain-containing protein 2
Alternative name(s):
Protein RU2S
Gene namesi
Name:DCDC2
Synonyms:KIAA1154, RU2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000146038.11
HGNCiHGNC:18141 DCDC2
MIMi605755 gene
neXtProtiNX_Q9UHG0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Dyslexia 2 (DYX2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
See also OMIM:600202
Nephronophthisis 19 (NPHP19)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis.
See also OMIM:616217
Deafness, autosomal recessive, 66 (DFNB66)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:610212
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074667424Q → P in DFNB66; results in ciliary abnormalities including increased ciliary length. 1 PublicationCorresponds to variant dbSNP:rs794729665EnsemblClinVar.1
Sclerosing cholangitis, neonatal (NSC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities.
See also OMIM:617394
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07724517K → N in NSC; loss of localization to the cilium axoneme. 1 Publication1
Natural variantiVAR_078767217 – 476Missing in NSC. 1 PublicationAdd BLAST260
Natural variantiVAR_078768297 – 476Missing in NSC. 1 PublicationAdd BLAST180

Keywords - Diseasei

Ciliopathy, Deafness, Disease mutation, Nephronophthisis, Non-syndromic deafness

Organism-specific databases

DisGeNETi51473
MalaCardsiDCDC2
MIMi600202 phenotype
610212 phenotype
616217 phenotype
617394 phenotype
OpenTargetsiENSG00000146038
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
480556 Isolated neonatal sclerosing cholangitis
84081 Senior-Boichis syndrome
PharmGKBiPA134978716

Polymorphism and mutation databases

BioMutaiDCDC2
DMDMi147744557

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000798041 – 476Doublecortin domain-containing protein 2Add BLAST476

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei270PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UHG0
PeptideAtlasiQ9UHG0
PRIDEiQ9UHG0
ProteomicsDBi84347
84348 [Q9UHG0-2]

PTM databases

iPTMnetiQ9UHG0
PhosphoSitePlusiQ9UHG0

Expressioni

Tissue specificityi

Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus (PubMed:10601354, PubMed:16278297). Expressed in liver by cholangiocytes, the epithelial cells of the bile ducts (at protein level) (PubMed:27319779).3 Publications

Gene expression databases

BgeeiENSG00000146038 Expressed in 111 organ(s), highest expression level in metanephros
CleanExiHS_DCDC2
ExpressionAtlasiQ9UHG0 baseline and differential
GenevisibleiQ9UHG0 HS

Organism-specific databases

HPAiHPA031582
HPA031583
HPA031584

Interactioni

Subunit structurei

Interacts with DVL1, DVL2 and DVL3.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119558, 4 interactors
CORUMiQ9UHG0
IntActiQ9UHG0, 19 interactors
STRINGi9606.ENSP00000367715

Structurei

Secondary structure

1476
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UHG0
SMRiQ9UHG0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHG0

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 100Doublecortin 1PROSITE-ProRule annotationAdd BLAST84
Domaini139 – 221Doublecortin 2PROSITE-ProRule annotationAdd BLAST83

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00920000149015
HOGENOMiHOG000082435
HOVERGENiHBG051319
InParanoidiQ9UHG0
OMAiSYGQKAS
OrthoDBiEOG091G13U4
PhylomeDBiQ9UHG0
TreeFamiTF338406

Family and domain databases

CDDicd01617 DCX, 2 hits
Gene3Di3.10.20.230, 2 hits
InterProiView protein in InterPro
IPR033036 DCDC2
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
PANTHERiPTHR23004:SF5 PTHR23004:SF5, 1 hit
PfamiView protein in Pfam
PF03607 DCX, 2 hits
SMARTiView protein in SMART
SM00537 DCX, 2 hits
SUPFAMiSSF89837 SSF89837, 2 hits
PROSITEiView protein in PROSITE
PS50309 DC, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UHG0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGSSARSSH LSQPVVKSVL VYRNGDPFYA GRRVVIHEKK VSSFEVFLKE
60 70 80 90 100
VTGGVQAPFG AVRNIYTPRT GHRIRKLDQI QSGGNYVAGG QEAFKKLNYL
110 120 130 140 150
DIGEIKKRPM EVVNTEVKPV IHSRINVSAR FRKPLQEPCT IFLIANGDLI
160 170 180 190 200
NPASRLLIPR KTLNQWDHVL QMVTEKITLR SGAVHRLYTL EGKLVESGAE
210 220 230 240 250
LENGQFYVAV GRDKFKKLPY SELLFDKSTM RRPFGQKASS LPPIVGSRKS
260 270 280 290 300
KGSGNDRHSK STVGSSDNSS PQPLKRKGKK EDVNSEKLTK LKQNVKLKNS
310 320 330 340 350
QETIPNSDEG IFKAGAERSE TRGAAEVQED EDTQVEVPVD QRPAEIVDEE
360 370 380 390 400
EDGEKANKDA EQKEDFSGMN GDLEEEGGRE ATDAPEQVEE ILDHSEQQAR
410 420 430 440 450
PARVNGGTDE ENGEELQQVN NELQLVLDKE RKSQGAGSGQ DEADVDPQRP
460 470
PRPEVKITSP EENENNQQNK DYAAVA
Length:476
Mass (Da):52,834
Last modified:May 15, 2007 - v2
Checksum:i50DD06EA2FB9BD53
GO
Isoform 2 (identifier: Q9UHG0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.
     248-307: RKSKGSGNDR...KNSQETIPNS → MKMWNNWGWC...FDFHCVFVSI

Note: No experimental confirmation available.
Show »
Length:229
Mass (Da):25,582
Checksum:iBAE1B1409AC4553E
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y784H0Y784_HUMAN
Doublecortin domain-containing prot...
DCDC2
88Annotation score:

Sequence cautioni

The sequence CAB61371 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71G → D in AAH50704 (PubMed:15489334).Curated1
Sequence conflicti370N → K in CAB61371 (PubMed:17974005).Curated1
Sequence conflicti424Q → R in CAB61371 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07724517K → N in NSC; loss of localization to the cilium axoneme. 1 Publication1
Natural variantiVAR_050946152P → A. Corresponds to variant dbSNP:rs33914824EnsemblClinVar.1
Natural variantiVAR_078767217 – 476Missing in NSC. 1 PublicationAdd BLAST260
Natural variantiVAR_022890221S → G3 PublicationsCorresponds to variant dbSNP:rs2274305EnsemblClinVar.1
Natural variantiVAR_078768297 – 476Missing in NSC. 1 PublicationAdd BLAST180
Natural variantiVAR_074667424Q → P in DFNB66; results in ciliary abnormalities including increased ciliary length. 1 PublicationCorresponds to variant dbSNP:rs794729665EnsemblClinVar.1
Natural variantiVAR_050947456K → N. Corresponds to variant dbSNP:rs9460973EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0146701 – 247Missing in isoform 2. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_014671248 – 307RKSKG…TIPNS → MKMWNNWGWCGGRRRGCTKI LSTKKGIQMSIKNKHLIVIP AFSHTMSQLDFDFHCVFVSI in isoform 2. 1 PublicationAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF181720 Genomic DNA Translation: AAF23610.1
AF181721 mRNA Translation: AAF23612.1
AB032980 mRNA Translation: BAA86468.2
AL133043 mRNA Translation: CAB61371.1 Different initiation.
AL359389 Genomic DNA No translation available.
AL359713 Genomic DNA No translation available.
FO393410 Genomic DNA No translation available.
BC050704 mRNA Translation: AAH50704.1
CCDSiCCDS4550.1 [Q9UHG0-1]
PIRiT42643
RefSeqiNP_001182539.1, NM_001195610.1 [Q9UHG0-1]
NP_057440.2, NM_016356.4 [Q9UHG0-1]
UniGeneiHs.61345

Genome annotation databases

EnsembliENST00000378450; ENSP00000367711; ENSG00000146038 [Q9UHG0-2]
ENST00000378454; ENSP00000367715; ENSG00000146038 [Q9UHG0-1]
GeneIDi51473
KEGGihsa:51473
UCSCiuc003ndx.4 human [Q9UHG0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF181720 Genomic DNA Translation: AAF23610.1
AF181721 mRNA Translation: AAF23612.1
AB032980 mRNA Translation: BAA86468.2
AL133043 mRNA Translation: CAB61371.1 Different initiation.
AL359389 Genomic DNA No translation available.
AL359713 Genomic DNA No translation available.
FO393410 Genomic DNA No translation available.
BC050704 mRNA Translation: AAH50704.1
CCDSiCCDS4550.1 [Q9UHG0-1]
PIRiT42643
RefSeqiNP_001182539.1, NM_001195610.1 [Q9UHG0-1]
NP_057440.2, NM_016356.4 [Q9UHG0-1]
UniGeneiHs.61345

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DNFNMR-A132-226[»]
ProteinModelPortaliQ9UHG0
SMRiQ9UHG0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119558, 4 interactors
CORUMiQ9UHG0
IntActiQ9UHG0, 19 interactors
STRINGi9606.ENSP00000367715

PTM databases

iPTMnetiQ9UHG0
PhosphoSitePlusiQ9UHG0

Polymorphism and mutation databases

BioMutaiDCDC2
DMDMi147744557

Proteomic databases

PaxDbiQ9UHG0
PeptideAtlasiQ9UHG0
PRIDEiQ9UHG0
ProteomicsDBi84347
84348 [Q9UHG0-2]

Protocols and materials databases

DNASUi51473
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378450; ENSP00000367711; ENSG00000146038 [Q9UHG0-2]
ENST00000378454; ENSP00000367715; ENSG00000146038 [Q9UHG0-1]
GeneIDi51473
KEGGihsa:51473
UCSCiuc003ndx.4 human [Q9UHG0-1]

Organism-specific databases

CTDi51473
DisGeNETi51473
EuPathDBiHostDB:ENSG00000146038.11
GeneCardsiDCDC2
HGNCiHGNC:18141 DCDC2
HPAiHPA031582
HPA031583
HPA031584
MalaCardsiDCDC2
MIMi600202 phenotype
605755 gene
610212 phenotype
616217 phenotype
617394 phenotype
neXtProtiNX_Q9UHG0
OpenTargetsiENSG00000146038
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
480556 Isolated neonatal sclerosing cholangitis
84081 Senior-Boichis syndrome
PharmGKBiPA134978716
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00920000149015
HOGENOMiHOG000082435
HOVERGENiHBG051319
InParanoidiQ9UHG0
OMAiSYGQKAS
OrthoDBiEOG091G13U4
PhylomeDBiQ9UHG0
TreeFamiTF338406

Enzyme and pathway databases

SIGNORiQ9UHG0

Miscellaneous databases

ChiTaRSiDCDC2 human
EvolutionaryTraceiQ9UHG0
GeneWikiiDCDC2
GenomeRNAii51473
PROiPR:Q9UHG0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146038 Expressed in 111 organ(s), highest expression level in metanephros
CleanExiHS_DCDC2
ExpressionAtlasiQ9UHG0 baseline and differential
GenevisibleiQ9UHG0 HS

Family and domain databases

CDDicd01617 DCX, 2 hits
Gene3Di3.10.20.230, 2 hits
InterProiView protein in InterPro
IPR033036 DCDC2
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
PANTHERiPTHR23004:SF5 PTHR23004:SF5, 1 hit
PfamiView protein in Pfam
PF03607 DCX, 2 hits
SMARTiView protein in SMART
SM00537 DCX, 2 hits
SUPFAMiSSF89837 SSF89837, 2 hits
PROSITEiView protein in PROSITE
PS50309 DC, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiDCDC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHG0
Secondary accession number(s): Q5VTR8
, Q5VTR9, Q86W35, Q9UFD1, Q9UHG1, Q9ULR6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: May 15, 2007
Last modified: November 7, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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