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Aliases for DCDC2 Gene

Aliases for DCDC2 Gene

  • Doublecortin Domain Containing 2 2 3 5
  • RU2 3 4
  • Doublecortin Domain-Containing Protein 2 3
  • Deafness, Autosomal Recessive 66 2
  • Protein RU2S 4
  • KIAA1154 4
  • DCDC2A 3
  • NPHP19 3
  • DFNB66 3
  • RU2S 3
  • NSC 3

External Ids for DCDC2 Gene

Previous HGNC Symbols for DCDC2 Gene

  • DFNB66

Previous GeneCards Identifiers for DCDC2 Gene

  • GC06M024233
  • GC06M024254
  • GC06M024277

Summaries for DCDC2 Gene

Entrez Gene Summary for DCDC2 Gene

  • This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for DCDC2 Gene

DCDC2 (Doublecortin Domain Containing 2) is a Protein Coding gene. Diseases associated with DCDC2 include Deafness, Autosomal Recessive 66 and Sclerosing Cholangitis, Neonatal. An important paralog of this gene is DCDC2C.

UniProtKB/Swiss-Prot for DCDC2 Gene

  • 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).

Gene Wiki entry for DCDC2 Gene

Additional gene information for DCDC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCDC2 Gene

Genomics for DCDC2 Gene

Regulatory Elements for DCDC2 Gene

Enhancers for DCDC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H024312 1.5 FANTOM5 Ensembl ENCODE 16.8 +69.7 69694 2.1 FOXA2 ATF1 MLX ARID4B SIN3A FEZF1 DMAP1 ETS1 SP5 NFYC DCDC2 KAAG1 ENSG00000251830
GH06H024321 1.2 FANTOM5 ENCODE 12.7 +60.1 60119 3.3 ELF3 ARID4B FEZF1 THRB RARA ZNF366 SCRT2 CREM MIXL1 SP5 DCDC2 RNU6-391P MRS2 KAAG1 ENSG00000251830
GH06H024357 1.3 Ensembl ENCODE 5.5 +25.5 25453 1.6 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 PAF1 SP3 MXD4 NFYC DCDC2 KAAG1 GC06P024361
GH06H024341 1.3 FANTOM5 ENCODE 4.5 +41.9 41925 0.2 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 TCF12 SP5 REST KAAG1 DCDC2 ENSG00000251830
GH06H024331 0.5 ENCODE 5.4 +50.7 50650 1.4 JUND FOS CHD7 DCDC2 KAAG1 ENSG00000251830
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCDC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DCDC2 Gene

Genomic Locations for DCDC2 Gene
211,538 bases
Minus strand

Genomic View for DCDC2 Gene

Genes around DCDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCDC2 Gene

Proteins for DCDC2 Gene

  • Protein details for DCDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Doublecortin domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • Q5VTR8
    • Q5VTR9
    • Q86W35
    • Q9UFD1
    • Q9UHG1
    • Q9ULR6

    Protein attributes for DCDC2 Gene

    476 amino acids
    Molecular mass:
    52834 Da
    Quaternary structure:
    • Interacts with DVL1, DVL2 and DVL3.
    • Sequence=CAB61371.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DCDC2 Gene

    Alternative splice isoforms for DCDC2 Gene


neXtProt entry for DCDC2 Gene

Post-translational modifications for DCDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DCDC2 Gene

No data available for DME Specific Peptides for DCDC2 Gene

Domains & Families for DCDC2 Gene

Gene Families for DCDC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DCDC2 Gene


Suggested Antigen Peptide Sequences for DCDC2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCDC2: view

No data available for UniProtKB/Swiss-Prot for DCDC2 Gene

Function for DCDC2 Gene

Molecular function for DCDC2 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for DCDC2 Gene

Gene Ontology (GO) - Molecular Function for DCDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21698230
GO:0019894 kinesin binding IEA --
genes like me logo Genes that share ontologies with DCDC2: view
genes like me logo Genes that share phenotypes with DCDC2: view

Human Phenotype Ontology for DCDC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DCDC2 Gene

MGI Knock Outs for DCDC2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DCDC2 Gene

Localization for DCDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCDC2 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, kinocilium. Cytoplasm, cytoskeleton. Note=Localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. {ECO:0000269 PubMed:25557784}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCDC2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA,IEA 21698230
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with DCDC2: view

Pathways & Interactions for DCDC2 Gene

SuperPathways for DCDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DCDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration NAS 16278297
GO:0006968 cellular defense response TAS 10601354
GO:0007399 nervous system development IEA --
GO:0007605 sensory perception of sound IEA,IMP 25601850
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with DCDC2: view

No data available for Pathways by source and SIGNOR curated interactions for DCDC2 Gene

Drugs & Compounds for DCDC2 Gene

No Compound Related Data Available

Transcripts for DCDC2 Gene

mRNA/cDNA for DCDC2 Gene

Unigene Clusters for DCDC2 Gene

Doublecortin domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCDC2 Gene

No ASD Table

Relevant External Links for DCDC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DCDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DCDC2 Gene

This gene is overexpressed in Kidney - Cortex (x16.8) and Pancreas (x10.9).

Protein differential expression in normal tissues from HIPED for DCDC2 Gene

This gene is overexpressed in Islet of Langerhans (27.8), Pancreas (20.8), Amniocyte (12.1), and Kidney (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DCDC2 Gene

Protein tissue co-expression partners for DCDC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DCDC2 Gene:


SOURCE GeneReport for Unigene cluster for DCDC2 Gene:


mRNA Expression by UniProt/SwissProt for DCDC2 Gene:

Tissue specificity: 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).

Evidence on tissue expression from TISSUES for DCDC2 Gene

  • Nervous system(4.4)
  • Intestine(4.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCDC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • mouth
  • outer ear
  • skull
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DCDC2: view

Orthologs for DCDC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCDC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DCDC2 34
  • 100 (a)
(Canis familiaris)
Mammalia DCDC2 33 34
  • 87.32 (n)
(Bos Taurus)
Mammalia DCDC2 33 34
  • 86.95 (n)
(Rattus norvegicus)
Mammalia Dcdc2 33
  • 83.58 (n)
(Mus musculus)
Mammalia Dcdc2a 33 16 34
  • 82.81 (n)
(Ornithorhynchus anatinus)
Mammalia DCDC2 34
  • 68 (a)
(Monodelphis domestica)
Mammalia DCDC2 34
  • 67 (a)
(Gallus gallus)
Aves DCDC2 33 34
  • 69.16 (n)
(Anolis carolinensis)
Reptilia DCDC2 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dcdc2 33
  • 66.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52970 33
(Danio rerio)
Actinopterygii dcdc2b 33
  • 53.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8501 34
  • 20 (a)
Species where no ortholog for DCDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DCDC2 Gene

Gene Tree for DCDC2 (if available)
Gene Tree for DCDC2 (if available)

Paralogs for DCDC2 Gene

Paralogs for DCDC2 Gene

(2) SIMAP similar genes for DCDC2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DCDC2: view

Variants for DCDC2 Gene

Sequence variations from dbSNP and Humsavar for DCDC2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs794729665 Pathogenic, Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212] 24,178,385(-) GCTTC(A/C)ACTGG reference, missense
VAR_077245 Sclerosing cholangitis, neonatal (NSC) [MIM:617394]
rs730880299 Pathogenic 24,290,987(-) TTAAG(A/T)AACTG reference, stop-gained
rs757704417 Pathogenic 24,357,627(+) GCTGG(-/AC)ACCTT reference, frameshift-variant, utr-variant-5-prime
rs760040426 Pathogenic 24,302,046(+) TTACC(C/T)TTAAA splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for DCDC2 Gene

Variant ID Type Subtype PubMed ID
nsv601159 CNV loss 21841781
nsv601146 CNV gain 21841781
nsv512869 CNV insertion 21212237
nsv511857 CNV loss 21212237
nsv511339 CNV loss 21212237
nsv1073542 CNV deletion 25765185
nsv1026638 CNV gain 25217958
esv9426 CNV loss 19470904
esv3608367 CNV loss 21293372
esv3608365 CNV loss 21293372
esv3567429 CNV deletion 23714750
esv3567424 CNV deletion 23714750
esv33852 CNV loss 17666407
esv3348035 CNV insertion 20981092
esv33412 CNV loss 17666407
esv3304834 CNV mobile element insertion 20981092
esv32656 CNV loss 17666407
esv2731711 CNV deletion 23290073
esv2671001 CNV deletion 23128226
esv2456318 CNV insertion 19546169
esv23337 CNV loss 19812545
esv1324202 CNV insertion 17803354
dgv1081e199 CNV deletion 23128226
dgv10330n54 CNV loss 21841781
dgv10329n54 CNV loss 21841781
dgv10328n54 CNV loss 21841781
dgv10327n54 CNV loss 21841781
dgv1003n67 CNV loss 20364138

Variation tolerance for DCDC2 Gene

Residual Variation Intolerance Score: 67.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.01; 84.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCDC2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCDC2 Gene

Disorders for DCDC2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for DCDC2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 66
  • autosomal recessive nonsyndromic deafness 66
sclerosing cholangitis, neonatal
  • nsc
nephronophthisis 19
  • nphp19
senior-boichis syndrome
  • boichis disease
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search DCDC2 in MalaCards View complete list of genes associated with diseases


  • Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212]: A 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. {ECO:0000269 PubMed:25601850}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyslexia 2 (DYX2) [MIM:600202]: A 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. {ECO:0000269 PubMed:16278297}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Nephronophthisis 19 (NPHP19) [MIM:616217]: A 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. {ECO:0000269 PubMed:25557784}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sclerosing cholangitis, neonatal (NSC) [MIM:617394]: An 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. {ECO:0000269 PubMed:27319779, ECO:0000269 PubMed:27469900}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DCDC2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DCDC2: view

No data available for Genatlas for DCDC2 Gene

Publications for DCDC2 Gene

  1. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (PMID: 25557784) Schueler M … Hildebrandt F (American journal of human genetics 2015) 2 3 4 60
  2. A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. (PMID: 25601850) Grati M … Masmoudi S (Human molecular genetics 2015) 2 3 4 60
  3. Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. (PMID: 19018237) Ludwig KU … Hoffmann P (Psychiatric genetics 2008) 3 22 45 60
  4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 60
  5. A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription. (PMID: 10601354) Van Den Eynde BJ … Boon T (The Journal of experimental medicine 1999) 2 3 4 60

Products for DCDC2 Gene

Sources for DCDC2 Gene

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