DCDC2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DCDC2 |
| Official Name | doublecortin domain containing 2 [Source:HGNC Symbol;Acc:HGNC:18141] |
| Ensembl ID | ENSG00000146038 |
| Bio databases IDs | |
| Aliases | doublecortin domain containing 2, nephronophthisis 19 |
| Synonyms | AW492955, DCDC2A, DFNB66, doublecortin domain containing 2, doublecortin domain containing 2a, NPHP19, NSC, RU2, RU2S |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DCDC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Doublecortin
- Ubl1_cv_Nsp3_N-like
- protein binding
- kinesin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- neonatal sclerosing cholangitis
- autosomal recessive deafness type 66
- nephronophthisis type 19
- familial nonsyndromic hearing impairment
- ciliopathy
- dyslexia
- Anderson disease
- airway obstruction
- susceptibility to dyslexia type 2
role in cell
- proliferation
- expression in
- cell viability
- assembly
- migration
- invasion by
- morphogenesis
- action potential
- response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- kinocilia
- microtubule cytoskeleton
- Cytoplasm
- cilia
- centrosome
- axonemes
- cytosol
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DCDC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- cellular defense response
- neuron migration
- cilium morphogenesis
- positive regulation of smoothened signaling pathway
- regulation of Wnt receptor signaling pathway
- intracellular signal transduction
- dendrite morphogenesis
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- microtubule organizing center
- mitotic spindle
- cytoplasm
- centriolar satellite
- cilium
- kinocilium
- cytosol
- axoneme
- microtubule
Molecular Function
What the gene product does at the molecular level
- protein binding
- kinesin binding