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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 Nephronophthisis 19. An important paralog of this gene is DCDC2B.

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

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
GH06G024312 1.5 FANTOM5 Ensembl ENCODE 16.8 +69.7 69694 2.1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 FEZF1 ETS1 FOS SP5 DCDC2 KAAG1 ENSG00000251830
GH06G024321 1.2 FANTOM5 ENCODE 12.7 +60.1 60119 3.3 ELF3 ARID4B FEZF1 THRB RARA SLC30A9 GATA4 ZNF366 SCRT2 CREM DCDC2 RNU6-391P MRS2 KAAG1 ENSG00000251830
GH06G024357 1.3 Ensembl ENCODE 5.5 +25.5 25453 1.6 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF416 PAF1 SP3 DCDC2 KAAG1 GC06P024361
GH06G024341 1.3 FANTOM5 ENCODE 4.5 +41.9 41925 0.2 HNRNPUL1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 TCF12 SLC30A9 KAAG1 DCDC2 ENSG00000251830
GH06G024331 0.6 ENCODE 5.4 +50.7 50650 1.4 JUND SIN3A CEBPB FOS CHD7 MAFK 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 Location for DCDC2 Gene

Chromosome:
6
Start:
24,171,755 bp from pter
End:
24,383,292 bp from pter
Size:
211,538 bases
Orientation:
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:
    Q9UHG0-DCDC2_HUMAN
    Recommended name:
    Doublecortin domain-containing protein 2
    Protein Accession:
    Q9UHG0
    Secondary Accessions:
    • Q5VTR8
    • Q5VTR9
    • Q86W35
    • Q9UFD1
    • Q9UHG1
    • Q9ULR6

    Protein attributes for DCDC2 Gene

    Size:
    476 amino acids
    Molecular mass:
    52834 Da
    Quaternary structure:
    • Interacts with DVL1, DVL2 and DVL3.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Protein Domains for DCDC2 Gene

InterPro:
ProtoNet:

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).

Gene Ontology (GO) - Molecular Function for DCDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21698230
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

COMPARTMENTS
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

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 IMP,IEA 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:

CRISPR Products

Inhibitory RNA Products

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
DCDC2
ECgene alternative splicing isoforms for
DCDC2

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:

DCDC2

SOURCE GeneReport for Unigene cluster for DCDC2 Gene:

Hs.61345

mRNA Expression by UniProt/SwissProt for DCDC2 Gene:

Q9UHG0-DCDC2_HUMAN
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
Systems:
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • mouth
  • outer ear
  • skull
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DCDC2: view

Primer Products

Orthologs for DCDC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCDC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCDC2 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCDC2 34 35
  • 87.32 (n)
cow
(Bos Taurus)
Mammalia DCDC2 34 35
  • 86.95 (n)
rat
(Rattus norvegicus)
Mammalia Dcdc2 34
  • 83.58 (n)
mouse
(Mus musculus)
Mammalia Dcdc2a 34 16 35
  • 82.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DCDC2 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCDC2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCDC2 34 35
  • 69.16 (n)
lizard
(Anolis carolinensis)
Reptilia DCDC2 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcdc2 34
  • 66.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52970 34
zebrafish
(Danio rerio)
Actinopterygii dcdc2b 34
  • 53.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8501 35
  • 20 (a)
OneToMany
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

ENSEMBL:
Gene Tree for DCDC2 (if available)
TreeFam:
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
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
rs1000003499 -- 24,193,887(+) GTTAA(C/G/T)AAATC intron-variant

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

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

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)
DCDC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCDC2

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

Disorders for DCDC2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 66
  • autosomal recessive nonsyndromic deafness 66
nephronophthisis 19
  • nphp19
senior-boichis syndrome
  • boichis disease
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
writing disorder
- elite association - COSMIC cancer census association via MalaCards
Search DCDC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCDC2_HUMAN
  • 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.
  • Note=DCDC2 mutations are a cause of neonatal sclerosing cholangitis (NCS) without ichtyosis, a severe cholangiopathy of neonates with patent biliary ducts, leading to biliary cirrhosis. {ECO:0000269 PubMed:27319779}.

Relevant External Links for DCDC2

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

No data available for Genatlas for DCDC2 Gene

Publications for DCDC2 Gene

  1. 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. (Hum. Mol. Genet. 2015) 2 3 4 64
  2. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (PMID: 25557784) Schueler M. … Hildebrandt F. (Am. J. Hum. Genet. 2015) 2 3 4 64
  3. Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. (PMID: 19018237) Ludwig K.U. … Hoffmann P. (Psychiatr. Genet. 2008) 3 22 46 64
  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 Res. 1999) 2 3 4 64
  5. A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription. (PMID: 10601354) Van den Eynde B.J. … Boon T. (J. Exp. Med. 1999) 2 3 4 64

Products for DCDC2 Gene

Sources for DCDC2 Gene

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