CCDC88C - coiled-coil domain containing 88C Gene

中文名称：含卷曲螺旋结构域 88C

种属: Homo sapiens

同用名: HYC1; DAPLE; HKRP2; SCA40; KIAA1509

基因 ID: 440193 | 基因类型: protein coding

关于 CCDC88C

Cytogenetic location: 14q32.11-q32.12 Genomic coordinates (GRCh38): 14:91,271,323-91,417,820 (from NCBI)

This gene has 13 transcripts (splice variants), 271 orthologues, 5 paralogues and is associated with 5 phenotypes. Broad expression in lymph node (RPKM 9.5), spleen (RPKM 8.3) and 24 other tissues.

功能概要

该基因编码一种普遍表达的含有卷曲螺旋结构域的蛋白质，该蛋白质与散乱的蛋白质相互作用，是 Wnt 信号通路的负调节因子。由该基因编码的蛋白质在其 C 端有一个 PDZ 结构域结合基序，它与散乱的蛋白质相互作用。 Dishevelled 是一种参与 Wnt 信号通路调控的支架蛋白。 Wnt 信号通路在胚胎发育、组织维持和癌症进展中起着重要作用。该基因突变导致常染色体隐性遗传、原发性非综合征性先天性脑积水；一种以脑室中脑脊液过度积聚为特征的病症。[RefSeq 提供，2013 年 1 月]

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and Cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]

CCDC88C 基因产物(1)

mRNA	Protein	Name
NM_001080414.4	NP_001073883.2	protein Daple

CCDC88C 蛋白结构

HOOK

0
400
800
1200
1600
2028 a.a.

蛋白主名

其他名称

protein Daple

Dvl-associating protein with a high frequency of leucine residues

关联疾病

疾病名称

别名

Spinocerebellar Ataxia 40

Spinocerebellar Ataxia Type 40	SCA40
Ataxia, Spinocerebellar, Type 40

Hydrocephalus, Congenital, 1

Hydrocephaly	Ventriculomegaly
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	HYC1
Congenital Non-Communicating Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
Congenital Obstructive Hydrocephalus	Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
Hydrocephalus

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Congenital Hydrocephalus

Hydrocephalus	Hydrocephalus Adverse Event
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	Hydrocephalus In Newborn
Congenital Hydrocephaly

Cerebellar Ataxia Type 41

Sca41

Spastic Ataxia

Spax	Ataxia, Spastic

Dystonia 26, Myoclonic

Myoclonic Dystonia 26

DYT26

Cerebellar Ataxia Type 43

Sca43

Lissencephaly 5

LIS5	Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cobblestone Lissencephaly Without Muscular Or Eye Involvement	Lissencephaly Type 2 Without Muscular Or Eye Involvement
Lissencephaly Type 2 Without Muscular Or Ocular Involvement	Lissencephaly, Type 5

Episodic Kinesigenic Dyskinesia 2

EKD2	Dystonia 19
Dyt19

Parkinson Disease 20, Early-Onset

Early-Onset Parkinson Disease 20	PARK20
Parkinson'S Disease 20	Early-Onset Parkinson'S Disease 20
Parkinson Disease, Type 20, Early-Onset

Pettigrew Syndrome

PGS	Mrxs5
Mrx59	Mrxs21
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Mental Retardation, X-Linked, Syndromic 5
Mrxsf	Syndromic X-Linked Intellectual Disability 5
Fried Syndrome	Mental Retardation, X-Linked Syndromic 5
Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures	Mental Retardation, X-Linked, Syndromic, Fried Type
Mental Retardation, X-Linked, Syndromic 21	Syndromic X-Linked Mental Retardation 21
Syndromic X-Linked Mental Retardation Fried Type	X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An	Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures
X-Linked Syndromic Intellectual Disability 5	X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures	X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Mental Retardation, X-Linked Syndromic, Fried Type	Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
Mental Retardation, X-Linked 59

Communicating Hydrocephalus

Acquired Communicating Hydrocephalus

Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

Fowler Syndrome	Encephaloclastic Proliferative Vasculopathy
Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy	PVHH
Epv	Cerebral Proliferative Glomeruloid Vasculopathy
Hydranencephaly, Fowler Type	Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly
Fowler'S Syndrome	Fowler Christmas Chapple Syndrome
Fowler Vasculopathy	Polycystic Ovaries Urethral Sphincter Dysfunction
Voiding Dysfunction And Polycystic Ovaries	Fowler Vasculopaty
Hydranencephaly Fowler Type	Pgv
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria	D2HGA1
D-2-Hga	D-2-Hydroxyglutaric Acidemia
D2ha	D2hga
Aciduria, D-2-Hydroxyglutaric, Type 1	Combined D-2- And L-2-Hydroxyglutaric Aciduria

Dystonia 11, Myoclonic

Myoclonic Dystonia	Myoclonus-Dystonia Syndrome
DYT11	Myoclonic Dystonia 11
Alcohol-Responsive Dystonia	Myoclonus, Hereditary Essential
Dystonia-11, Myoclonic	Myoclonus-Dystonia
Dystonia 11	Hereditary Essential Myoclonus
Dystonia, Alcohol-Responsive	Dyt-Sgce
Dystonia, Alcohol Responsive	Dystonia-11
Dystonia, Myoclonic	Dystonia, Myoclonic, Type 11

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Dandy-Walker Syndrome

Dandy-Walker Malformation	DWS
Atresia Of Foramina Of Magendie And Luschka	Dandy-Walker Complex
Dandy-Walker Cyst	Dandy-Walker Deformity
Dandy Walker Cyst	Dw Complex
Dandy-Walker Syndrome Or Malformation	Dandy-Walker Variant
Mega Cisterna Magna	Dwm
Hydrocephalus, Internal, Dandy-Walker Type	Hydrocephalus, Noncommunicating, Dandy-Walker Type
Luschka-Magendie Foramina Atresia	Isolated Dandy-Walker Malformation
Mega-Cisterna Magna	Dandy Walker Variant
Atresia Of Foramen Of Luschka	Atresia Of Foramen Of Magendie
Congenital Blockage Of Foramen Magendie

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-RS02063	CCDC88C Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CCDC88C	RGD	RGD:1307429
Mus musculus	CCDC88C	MGD	MGI:1915589
Macaca mulatta	CCDC88C	VGNC	VGNC:84321
Canis familiaris	CCDC88C	VGNC	VGNC:38869
Felis catus	CCDC88C	VGNC	VGNC:60524
Bos taurus	CCDC88C	VGNC	VGNC:55038

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