CCDC40 - coiled-coil domain containing 40 Gene

中文名称：含卷曲螺旋结构域 40

种属: Homo sapiens

同用名: CILD15; FAP172; CFAP172

基因 ID: 55036 | 基因类型: protein coding

关于 CCDC40

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,036,642-80,100,613 (from NCBI)

This gene has 16 transcripts (splice variants), 190 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 4.5), lung (RPKM 1.1) and 14 other tissues.

功能概要

该基因编码的蛋白质是活动纤毛功能所必需的。它通过调节内动力蛋白臂和控制纤毛搏动的动力蛋白调节复合物的组装，在正确的左右轴形成中发挥作用。该基因的突变会导致 15 型纤毛运动障碍，这是一种由纤毛运动缺陷引起的疾病。可变剪接导致多个转录本变体。[RefSeq 提供，2011 年 8 月]

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

CCDC40 基因产物(3)

mRNA	Protein	Name
NM_001243342.2	NP_001230271.1	coiled-coil domain-containing protein 40 isoform 2
NM_001330508.2	NP_001317437.1	coiled-coil domain-containing protein 40 isoform 3
NM_017950.4	NP_060420.2	coiled-coil domain-containing protein 40 isoform 1

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	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in axonemal dynein complex assembly	IMP IMP: 通过突变表型推断	21131974	GOA
acts upstream of or within cilium movement	IMP IMP: 通过突变表型推断	22499950	GOA
involved in determination of digestive tract left/right asymmetry	IMP IMP: 通过突变表型推断	22693285	GOA
involved in determination of liver left/right asymmetry	IMP IMP: 通过突变表型推断	22693285	GOA
involved in determination of pancreatic left/right asymmetry	IMP IMP: 通过突变表型推断	22693285	GOA
involved in epithelial cilium movement involved in determination of left/right asymmetry	IMP IMP: 通过突变表型推断	21131974	GOA
involved in epithelial cilium movement involved in extracellular fluid movement	IMP IMP: 通过突变表型推断	21131974	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: 通过突变表型推断	23255504	GOA
involved in heart looping	IMP IMP: 通过突变表型推断	22693285	GOA
acts upstream of or within inner dynein arm assembly	IMP IMP: 通过突变表型推断	23255504	GOA
involved in lung development	IMP IMP: 通过突变表型推断	22693285	GOA
acts upstream of or within motile cilium assembly	IMP IMP: 通过突变表型推断	23255504	GOA
acts upstream of or within regulation of cilium beat frequency	IMP IMP: 通过突变表型推断	23255504	GOA
involved in regulation of cilium beat frequency	IMP IMP: 通过突变表型推断	21131974	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	23255504	GOA
located in cilium	IDA IDA: 通过直接分析推断	27120127	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

CCDC40 蛋白结构

BRE1

0
200
400
600
800
1000
1142 a.a.

蛋白主名

其他名称

coiled-coil domain-containing protein 40

关联疾病

疾病名称

别名

Ciliary Dyskinesia, Primary, 15

CILD15	Primary Ciliary Dyskinesia 15
Primary Ciliary Dyskinesia 15 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 15, With Or Without Situs Inversus
Ics15	Immotile Cilia Syndrome 15
Dyskinesia, Ciliary, Primary, Type 15

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 1

CILD1	Pcd
Primary Ciliary Dyskinesia 1	Kartagener Syndrome
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Immotile Cilia Syndrome
Ics	Polynesian Bronchiectasis
Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus	Ics1
Immotile Cilia Syndrome 1	Primary Ciliary Dyskinesia
KTGS	Dextrocardia-Bronchiectasis-Sinusitis Syndrome
Immotile Cilia Syndrome Kartagener Type	Primary Ciliary Dyskinesia Kartagener Type
Siewert Syndrome	Immotile Cilia
Dyskinesia, Ciliary, Primary, Type 1	Ciliary Motility Disorders

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

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Ciliary Dyskinesia, Primary, 14

Primary Ciliary Dyskinesia 14	CILD14
Primary Ciliary Dyskinesia 14 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 14, With Or Without Situs Inversus
Ics14	Immotile Cilia Syndrome 14
Dyskinesia, Ciliary, Primary, Type 14

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Ciliary Dyskinesia, Primary, 30

Primary Ciliary Dyskinesia 30	CILD30
Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 30 Without Situs Inversus
Primary Ciliary Dyskinesia 30 With Or Without Situs Inversus	Dyskinesia, Ciliary, Primary, Type 30

Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25

Acute Endometritis

Dextrocardia

Heart Predominantly In Right Hemithorax	Heart In Right Chest
Right-Sided Heart	Congenital Dextrocardia Of Heart
Transposition Of Heart

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Ethmoid Sinusitis

Ethmoidal Sinusitis

Ethmoiditis

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4	CILD4
Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus
Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8	CILD8
Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Chronic Rhinitis

Rhinitis - Chronic	Chronic Rhinitis Nos
Rhinitis	Rhinitis Nos

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Right Atrial Isomerism

Ivemark Syndrome	Asplenia With Cardiovascular Anomalies
RAI	Asplenia Syndrome
Asplenia	Right Isomerism
Splenic Agenesis Syndrome	Bilateral Right-Sidedness Sequence
Right Sided Atrial Isomerism	Isomerism Of Right Atrial Appendage
Heterotaxy, Visceroatrial, Autosomal Recessive	Polyasplenia
Vah, Autosomal Recessive	Atrial Isomerism, Right
Congenital Absence Of Spleen	Bilateral Right-Sidedness

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS02046	CCDC40 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	CCDC40	VGNC	VGNC:60500
Bos taurus	CCDC40	VGNC	VGNC:26895
Macaca mulatta	CCDC40	VGNC	VGNC:70865
Rattus norvegicus	CCDC40	RGD	RGD:1592118
Mus musculus	CCDC40	MGD	MGI:2443893
Canis familiaris	CCDC40	VGNC	VGNC:38837

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CCDC40 - coiled-coil domain containing 40 Gene

关于 CCDC40

功能概要

CCDC40 基因产物(3)

CCDC40 蛋白结构

关联疾病

直系同源

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CCDC40 - coiled-coil domain containing 40 Gene

关于 CCDC40

功能概要

CCDC40 基因产物(3)

CCDC40 蛋白结构

关联疾病

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直系同源

热门区域

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