• Gene id: 51473

Gene Summary

• Gene Symbol: DCDC2   Gene   UCSC   Ensembl
• Aliases: DCDC2A, DFNB66, NPHP19, NSC, RU2, RU2S
• Gene name: doublecortin domain containing 2
• Alternate names: doublecortin domain-containing protein 2,
• Gene location: 6p22.3 (24383291: 24171754)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 605755

Protein Summary

• Protein general information: Q9UHG0  
  • Name: Doublecortin domain containing protein 2 (Protein RU2S)
  • Length: 476  
  • Mass: 52834
  • Tissue specificity: Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus (PubMed
• Sequence:

  MSGSSARSSHLSQPVVKSVLVYRNGDPFYAGRRVVIHEKKVSSFEVFLKEVTGGVQAPFGAVRNIYTPRTGHRIR
  KLDQIQSGGNYVAGGQEAFKKLNYLDIGEIKKRPMEVVNTEVKPVIHSRINVSARFRKPLQEPCTIFLIANGDLI
  NPASRLLIPRKTLNQWDHVLQMVTEKITLRSGAVHRLYTLEGKLVESGAELENGQFYVAVGRDKFKKLPYSELLF
  DKSTMRRPFGQKASSLPPIVGSRKSKGSGNDRHSKSTVGSSDNSSPQPLKRKGKKEDVNSEKLTKLKQNVKLKNS
  QETIPNSDEGIFKAGAERSETRGAAEVQEDEDTQVEVPVDQRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEE
  EGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRP
  PRPEVKITSPEENENNQQNKDYAAVA

• Structural information:
  • Protein Domains: (17..10-)
    (/note="Doublecortin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00072-)
    (139..22-)
    (/note="Doublecortin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00072"-)
  • Interpro: IPR033036  IPR003533  IPR036572  
  • Prosite: PS50309
  • PDB: 2DNF
  • PDBsum: 2DNF
  • STRING: ENSP00000367715
• Other Databases: GeneCards:  DCDC2  Malacards:  DCDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0005874	microtubule	IBA	cellular component
GO:0030864	cortical actin cytoskeleton	IBA	colocalizes with
GO:0060091	kinocilium	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0048813	dendrite morphogenesis	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:1902017	regulation of cilium assembly	IBA	biological process
GO:0001764	neuron migration	IBA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1902017	regulation of cilium assembly	IMP	biological process
GO:0060091	kinocilium	ISS	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0030111	regulation of Wnt signaling pathway	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902017	regulation of cilium assembly	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0030111	regulation of Wnt signaling pathway	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060091	kinocilium	IEA	cellular component
GO:0019894	kinesin binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0060091	kinocilium	IEA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045880	positive regulation of smoothened signaling pathway	IMP	biological process
GO:0001764	neuron migration	NAS	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Nephronophthisis	KEGG:H00537
Deafness, autosomal recessive	KEGG:H00605
Nephronophthisis	KEGG:H00537
Autosomal recessive nonsyndromic deafness 66	PMID:25601850
Attention deficit hyperactivity disorder	PMID:27501527
Dyslexia	PMID:20068590
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R