DCDC2 - doublecortin domain containing 2 Gene

Also Known as NSC; RU2; RU2S; DCDC2A; DFNB66; NPHP19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51473

About DCDC2

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:24,171,755-24,383,292 (from NCBI)

This gene has 3 transcripts (splice variants), 180 orthologues, 2 paralogues and is associated with 7 phenotypes. Biased expression in kidney (RPKM 12.9), thyroid (RPKM 5.3) and 8 other tissues.

Summary

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 Products (2)

mRNA	Protein	Name
NM_001195610.2	NP_001182539.1	doublecortin domain-containing protein 2
NM_016356.5	NP_057440.2	doublecortin domain-containing protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21698230	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	27319779	GOA
involved in positive regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	21698230	GOA
involved in regulation of Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	25557784	GOA
involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	25601850	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	25601850	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axoneme	IDA IDA: Inferred from direct assay	25557784	GOA
located in cilium	IDA IDA: Inferred from direct assay	21698230	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21698230	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DCDC2 Protein Structure

DCX

0
100
200
300
400
476 a.a.

Protein Preferred Names	Protein Names
doublecortin domain-containing protein 2	nephronophthisis 19

DCDC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DCDC2	Q9UHG0	CYTH4	Homo sapiens	Q9UIA0	Validated Y2H	32296183
Intra	DCDC2	Q9UHG0	NIF3L1	Homo sapiens	Q9GZT8	Y2H Prey Pooling	25416956
Intra	DCDC2	Q9UHG0	NIF3L1	Homo sapiens	Q9GZT8	Validated Y2H	25416956
Intra	DCDC2	Q9UHG0	MRFAP1	Homo sapiens	Q9Y605	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

DCDC2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89682	DCDC2 Antibody (YA9026)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 66	DFNB66 Autosomal Recessive Nonsyndromic Deafness 66 Autosomal Recessive Deafness 66 Deafness, Autosomal Recessive, 66 Deafness, Autosomal Recessive, Type 66
Sclerosing Cholangitis, Neonatal	NSC
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Isolated Neonatal Sclerosing Cholangitis
Dyslexia 2	Dyslexia, Susceptibility To, 2 DYX2 Reading Disability, Specific, 2 Specific Reading Disability Type 2 Dyslexia, Type 2
Senior-Boichis Syndrome	Boichis Disease Nephronophthisis-Hepatic Fibrosis Syndrome
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Sclerosing Cholangitis	Fibrosing Cholangitis Cholangitis, Sclerosing Primary Sclerosing Cholangitis
Dyslexia
Cholangitis	Acute Cholangiolitis Ascending Cholangitis Cholangiolitis Cholangitis Nos Chronic Cholangiolitis Hepatic Duct Inflammation Acute Cholangitis Bile Duct Inflammation
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Reading Disorder	Specific Reading Disorder Reading Dyslexia Developmental Reading Disorder
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Writing Disorder
Amusia	Receptive Amusia
Specific Language Impairment	Language Impairment, Specific
Deafness, Autosomal Recessive 84a	DFNB84A Deafness, Autosomal Recessive 84 Autosomal Recessive Nonsyndromic Deafness 84a Dfnb84 Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction Autosomal Recessive Deafness 84a Autosomal Recessive Deafness 84a With Vestibular Dysfunction Deafness, Autosomal Recessive, 84a Deafness Autosomal Recessive 84 Deafness Autosomal Recessive 84a With Vestibular Dysfunction Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84 Deafness, Autosomal Recessive, Type 84a
Dyscalculia	Disorder Of Arithmetical Skills Mathematics Disorder Developmental Arithmetic Disorder
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Dysgraphia	Agraphia
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Specific Developmental Disorder
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03574	DCDC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DCDC2	VGNC	VGNC:71656
Bos taurus	DCDC2	VGNC	VGNC:27910
Mus musculus	DCDC2	MGD	MGI:2652818
Canis familiaris	DCDC2	VGNC	VGNC:39800
Rattus norvegicus	DCDC2	RGD	RGD:1310227
Felis catus	DCDC2	VGNC	VGNC:61364
Others	DCDC2	NCBI