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Protein

Doublecortin domain-containing protein 2

Gene

DCDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex. Involved in the control of ciliogenesis and ciliary length (PubMed:25601850).By similarity2 Publications

GO - Biological processi

  • cell projection organization Source: UniProtKB-KW
  • cellular defense response Source: ProtInc
  • 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
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Neurogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146038-MONOMER.

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

HGNCiHGNC:18141. DCDC2.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • cilium Source: UniProtKB
  • cytoplasm Source: GO_Central
  • kinocilium Source: UniProtKB
  • nucleus Source: HPA
Complete GO annotation...

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 rs794729665dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi51473.
MalaCardsiDCDC2.
MIMi600202. phenotype.
610212. phenotype.
616217. phenotype.
OpenTargetsiENSG00000146038.
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.

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.2 Publications

Gene expression databases

BgeeiENSG00000146038.
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

WithEntry#Exp.IntActNotes
MRFAP1Q9Y6053EBI-10303987,EBI-995714
NIF3L1Q9GZT83EBI-10303987,EBI-740897

Protein-protein interaction databases

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

Structurei

Secondary structure

1476
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi139 – 143Combined sources5
Beta strandi149 – 151Combined sources3
Beta strandi154 – 158Combined sources5
Helixi160 – 163Combined sources4
Helixi166 – 176Combined sources11
Beta strandi186 – 189Combined sources4
Beta strandi194 – 197Combined sources4
Beta strandi206 – 210Combined sources5
Helixi221 – 224Combined sources4

3D structure databases

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

Sequence similaritiesi

Contains 2 doublecortin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
GeneTreeiENSGT00860000133725.
HOGENOMiHOG000082435.
HOVERGENiHBG051319.
InParanoidiQ9UHG0.
OMAiRPMEVVN.
OrthoDBiEOG091G13U4.
PhylomeDBiQ9UHG0.
TreeFamiTF338406.

Family and domain databases

CDDicd01617. DCX. 2 hits.
Gene3Di3.10.20.230. 2 hits.
InterProiIPR033036. DCDC2.
IPR003533. Doublecortin_dom.
[Graphical view]
PANTHERiPTHR23004:SF5. PTHR23004:SF5. 1 hit.
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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_050946152P → A.Corresponds to variant rs33914824dbSNPEnsembl.1
Natural variantiVAR_022890221S → G.3 PublicationsCorresponds to variant rs2274305dbSNPEnsembl.1
Natural variantiVAR_074667424Q → P in DFNB66; results in ciliary abnormalities including increased ciliary length. 1 PublicationCorresponds to variant rs794729665dbSNPEnsembl.1
Natural variantiVAR_050947456K → N.Corresponds to variant rs9460973dbSNPEnsembl.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

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.
IntActiQ9UHG0. 19 interactors.
STRINGi9606.ENSP00000367715.

PTM databases

iPTMnetiQ9UHG0.
PhosphoSitePlusiQ9UHG0.

Polymorphism and mutation databases

BioMutaiDCDC2.
DMDMi147744557.

Proteomic databases

PaxDbiQ9UHG0.
PeptideAtlasiQ9UHG0.
PRIDEiQ9UHG0.

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.
GeneCardsiDCDC2.
HGNCiHGNC:18141. DCDC2.
HPAiHPA031582.
HPA031583.
HPA031584.
MalaCardsiDCDC2.
MIMi600202. phenotype.
605755. gene.
610212. phenotype.
616217. phenotype.
neXtProtiNX_Q9UHG0.
OpenTargetsiENSG00000146038.
PharmGKBiPA134978716.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
GeneTreeiENSGT00860000133725.
HOGENOMiHOG000082435.
HOVERGENiHBG051319.
InParanoidiQ9UHG0.
OMAiRPMEVVN.
OrthoDBiEOG091G13U4.
PhylomeDBiQ9UHG0.
TreeFamiTF338406.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146038-MONOMER.

Miscellaneous databases

ChiTaRSiDCDC2. human.
EvolutionaryTraceiQ9UHG0.
GeneWikiiDCDC2.
GenomeRNAii51473.
PROiQ9UHG0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146038.
CleanExiHS_DCDC2.
ExpressionAtlasiQ9UHG0. baseline and differential.
GenevisibleiQ9UHG0. HS.

Family and domain databases

CDDicd01617. DCX. 2 hits.
Gene3Di3.10.20.230. 2 hits.
InterProiIPR033036. DCDC2.
IPR003533. Doublecortin_dom.
[Graphical view]
PANTHERiPTHR23004:SF5. PTHR23004:SF5. 1 hit.
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDCDC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHG0
Secondary accession number(s): Q5VTR8
, Q5VTR9, Q86W35, Q9UFD1, Q9UHG1, Q9ULR6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: May 15, 2007
Last modified: November 30, 2016
This is version 133 of the entry and version 2 of the sequence. [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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.