DCDC2 Gene (Protein Coding)

Doublecortin Domain Containing 2

GC06M024171
GIFtS:
40
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 t... See more...

Aliases for DCDC2 Gene

Aliases for DCDC2 Gene

  • Doublecortin Domain Containing 2 2 3 5
  • RU2 2 3 4
  • Doublecortin Domain-Containing Protein 2 3 4
  • Nephronophthisis 19 2 3
  • KIAA1154 2 4
  • DCDC2A 2 3
  • NPHP19 2 3
  • Deafness, Autosomal Recessive 66 2
  • Protein RU2S 4
  • DFNB66 3
  • DCDC2 5
  • 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
  • GC06M024122

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 DCDC2B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DCDC2 Gene

Genomics for DCDC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DCDC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J024354 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 255.5 +25.4 25412 6.2 ZSCAN16 ZBTB10 MXD4 CEBPA ZFP64 ZNF217 CTCF BHLHE40 ZEB1 ELF1 DCDC2 HSALNG0048604 KAAG1 MRS2 RF00017-5364
GH06J024382 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 250.7 +0.2 236 2 MXD4 CEBPA HOMEZ FOXA2 ZNF511 SAP130 KMT2B GABPB1 RARA DMAP1 DCDC2 HSALNG0048607 MRS2 KAAG1
GH06J024312 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.8 +69.7 69693 2.1 FEZF1 CEBPA FOXA1 ZNF217 HOMEZ CEBPB MBD2 ZNF511 FOXA2 MAFF piR-30188-148 DCDC2 KAAG1 HSALNG0048603 piR-51878-033 NRSN1
GH06J024321 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.7 +60.5 60491 4.8 MXD4 FEZF1 HOMEZ SAP130 ETV4 RARA ZNF843 TEAD3 BCL6 JUND piR-51878-033 DCDC2 RNU6-391P MRS2 KAAG1 HSALNG0048603 NRSN1
GH06J024341 Enhancer 1.3 FANTOM5 Ensembl ENCODE 9.3 +41.8 41791 1.4 CEBPA FOXA1 ZNF217 HOMEZ KDM6A THAP11 MBD2 ZNF511 FOXA2 SMAD4 DCDC2 KAAG1 MRS2 piR-51878-033 NRSN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCDC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCDC2

Top Transcription factor binding sites by QIAGEN in the DCDC2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • GATA-1
  • NF-1
  • Pax-4a

Genomic Locations for DCDC2 Gene

Latest Assembly
chr6:24,171,755-24,383,292
(GRCh38/hg38)
Size:
211,538 bases
Orientation:
Minus strand

Previous Assembly
chr6:24,171,983-24,383,520
(GRCh37/hg19 by Entrez Gene)
Size:
211,538 bases
Orientation:
Minus strand

chr6:24,171,984-24,358,280
(GRCh37/hg19 by Ensembl)
Size:
186,297 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 Structure • Gene Density

RefSeq DNA sequence for DCDC2 Gene

Proteins for DCDC2 Gene

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  • 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=Extended N-terminus.; 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

Protein Expression for DCDC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DCDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DCDC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DCDC2 Gene

Domains & Families for DCDC2 Gene

Gene Families for DCDC2 Gene

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

Protein Domains for DCDC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCDC2 Gene

GenScript: Design optimal peptide antigens:
  • Protein RU2S (DCDC2_HUMAN)
  • Doublecortin domain containing 2 (Q5T3Y5_HUMAN)
genes like me logo Genes that share domains with DCDC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DCDC2 Gene

Function for DCDC2 Gene

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  6. Cell Lines for research

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:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCDC2

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 4
cytosol 4
mitochondrion 3
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (4)
  • Cytosol (4)
  • Mitotic spindle (4)
  • Microtubules (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 21698230
GO:0005815 microtubule organizing center IBA 21873635
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with DCDC2: view

Pathways & Interactions for DCDC2 Gene

PathCards logo

SuperPathways for DCDC2 Gene

No Data Available

SIGNOR curated interactions for DCDC2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DCDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA,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 for DCDC2 Gene

Drugs & Compounds for DCDC2 Gene

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No Compound Related Data Available

Transcripts for DCDC2 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for DCDC2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCDC2

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

No ASD Table

Relevant External Links for DCDC2 Gene

GeneLoc Exon Structure for
DCDC2

Expression for DCDC2 Gene

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

mRNA expression in normal human tissues for DCDC2 Gene
mRNA expression by BioGPS for DCDC2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for DCDC2 Gene



Protein tissue co-expression partners for DCDC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Intestine(4.2)
  • Kidney(2.5)
  • Liver(2.1)

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
Regions:
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

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 31
  • 100 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DCDC2 30 31
  • 87.32 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DCDC2 30 31
  • 86.95 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dcdc2 30
  • 83.58 (n)
Mouse
(Mus musculus)
 Mammalia Dcdc2a 30 17 31
  • 82.81 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DCDC2 31
  • 68 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DCDC2 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DCDC2 30 31
  • 69.16 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DCDC2 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dcdc2 30
  • 66.39 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC52970 30
Zebrafish
(Danio rerio)
 Actinopterygii dcdc2b 30
  • 53.71 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8501 31
  • 20 (a)
 OneToMany
Species where no ortholog for DCDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DCDC2: view image

Paralogs for DCDC2 Gene

Paralogs for DCDC2 Gene

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

  • DCDC2_HUMAN
  • H0Y784_HUMAN
genes like me logo Genes that share paralogs with DCDC2: view

Variants for DCDC2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCDC2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
417767 Pathogenic: Sclerosing cholangitis, neonatal 24,301,714(-) CCTGTGAACAGCCCCG
NM_016356.4(DCDC2):c.426_557del (p.Phe142_Arg186delinsLeu)
838322 Uncertain Significance: Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal 24,302,044(-) C/T
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) 		MISSENSE
850513 Uncertain Significance: Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal 24,178,580(-) T/A
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) 		MISSENSE
862889 Uncertain Significance: Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal 24,205,055(-) C/A
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) 		MISSENSE
917935 Likely Pathogenic: Nephronophthisis 19 24,357,457(-) CTTGAGTTTCTTGAAG
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) 		FRAMESHIFT_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DCDC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DCDC2 Gene

Human Gene Mutation Database (HGMD)
DCDC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCDC2

SNP Genotyping and Copy Number Assays for research

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

Disorders for DCDC2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for DCDC2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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
  • 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 variants 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 variants affecting the gene represented in this entry.
  • 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for DCDC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 74
  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 74
  3. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. (PMID: 27469900) Grammatikopoulos T … Thompson RJ (Journal of hepatology 2016) 3 4 74
  4. 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 23 41
  5. 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

ExternalLinks

View latest publications for DCDC2 gene in Mastermind

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