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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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21698230 |
GO:0019894 | kinesin binding | IEA | -- |
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 | -- |
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 | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DCDC2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DCDC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DCDC2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dcdc2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dcdc2a 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DCDC2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DCDC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DCDC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DCDC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dcdc2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC52970 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dcdc2b 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8501 31 |
|
OneToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 66 |
|
|
sclerosing cholangitis, neonatal |
|
|
nephronophthisis 19 |
|
|
senior-boichis syndrome |
|
|
isolated neonatal sclerosing cholangitis |
|
|