DCDC2 - doublecortin domain containing 2 Gene

中文名称：含双肾上腺皮质激素域 2

种属: Homo sapiens

同用名: NSC; RU2; RU2S; DCDC2A; DFNB66; NPHP19

基因 ID: 51473 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一个包含双皮质素结构域的家族成员。双皮质素结构域已被证明可结合微管蛋白并增强微管聚合。该家族成员被认为在神经元迁移中起作用，它可能影响初级纤毛的信号传导。该基因的突变与 2 型阅读障碍 (RD) 相关，也称为发育性阅读障碍。已发现该基因编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2013 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	21698230	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cilium assembly	IMP IMP: 通过突变表型推断	27319779	GOA
involved in positive regulation of smoothened signaling pathway	IMP IMP: 通过突变表型推断	21698230	GOA
involved in regulation of Wnt signaling pathway	IMP IMP: 通过突变表型推断	25557784	GOA
involved in regulation of cilium assembly	IMP IMP: 通过突变表型推断	25601850	GOA
involved in sensory perception of sound	IMP IMP: 通过突变表型推断	25601850	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in axoneme	IDA IDA: 通过直接分析推断	25557784	GOA
located in cilium	IDA IDA: 通过直接分析推断	21698230	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	21698230	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DCDC2 蛋白结构

DCX

0
100
200
300
400
476 a.a.

蛋白主名

其他名称

doublecortin domain-containing protein 2

nephronophthisis 19

DCDC2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	DCDC2	Q9UHG0	CYTH4	Homo sapiens	Q9UIA0	Validated Y2H	32296183
种属内	DCDC2	Q9UHG0	NIF3L1	Homo sapiens	Q9GZT8	Y2H Prey Pooling	25416956
种属内	DCDC2	Q9UHG0	NIF3L1	Homo sapiens	Q9GZT8	Validated Y2H	25416956
种属内	DCDC2	Q9UHG0	MRFAP1	Homo sapiens	Q9Y605	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03574	DCDC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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