DNAAF3 - dynein axonemal assembly factor 3 Gene

中文名称：动力蛋白轴丝装配因子 3

种属: Homo sapiens

同用名: PCD; DAB1; PF22; CILD2; C19orf51

基因 ID: 352909 | 基因类型: protein coding

关于 DNAAF3

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,158,661-55,166,722 (from NCBI)

This gene has 17 transcripts (splice variants), 173 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in testis (RPKM 22.9), heart (RPKM 3.1) and 1 other tissue.

功能概要

由该基因编码的蛋白质是轴丝内外动力蛋白臂组装所必需的，并在组装动力蛋白复合物以输送到纤毛中发挥作用。该基因的缺陷是原发性纤毛运动障碍 2 型 (CILD2) 的一个原因。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2012 年 5 月]

The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

DNAAF3 基因产物(4)

mRNA	Protein	Name
NM_001256714.1	NP_001243643.1	dynein axonemal assembly factor 3 isoform 1
NM_001256715.2	NP_001243644.1	dynein axonemal assembly factor 3 isoform 3
NM_001256716.2	NP_001243645.1	dynein axonemal assembly factor 3 isoform 4
NM_178837.4	NP_849159.2	dynein axonemal assembly factor 3 isoform 2

基因本体论

生物过程

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	22387996	GOA
involved in motile cilium assembly	IMP IMP: 通过突变表型推断	22387996	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

DNAAF3 蛋白结构

DUF4470

DUF4471

0
100
200
300
400
500
541 a.a.

蛋白主名

其他名称

dynein axonemal assembly factor 3

UPF0470 protein C19orf51

关联疾病

疾病名称

别名

Ciliary Dyskinesia, Primary, 2

Primary Ciliary Dyskinesia 2	CILD2
Primary Ciliary Dyskinesia 2 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 2, With Or Without Situs Inversus
Ics2	Immotile Cilia Syndrome 2
Dyskinesia, Ciliary, Primary, 2

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

Ciliary Dyskinesia, Primary, 38

CILD38	Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus
Primary Ciliary Dyskinesia 38	Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 26

Primary Ciliary Dyskinesia 26	CILD26
Primary Ciliary Dyskinesia 26 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 26, With Or Without Situs Inversus
Dyskinesia, Ciliary, Primary, 26

Kartagener Syndrome

Kartagener'S Syndrome

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Ciliary Dyskinesia, Primary, 28

Primary Ciliary Dyskinesia 28	CILD28
Primary Ciliary Dyskinesia 28 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 28, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 28, Without Situs Inversus	Dyskinesia, Ciliary, Primary, 28

Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis	Congenital Infundibular Stenosis
Infundibular Pulmonic Stenosis	Infundibular Pulmonic Stenosis, Congenital
Subvalvular Pulmonic Stenosis

Dextrocardia

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

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

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

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-RS03840	DNAAF3 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	DNAAF3	RGD	RGD:2323487
Canis familiaris	DNAAF3	VGNC	VGNC:53690
Mus musculus	DNAAF3	MGD	MGI:3588207

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

DNAAF3 - dynein axonemal assembly factor 3 Gene

关于 DNAAF3

功能概要

DNAAF3 基因产物(4)

DNAAF3 蛋白结构

关联疾病

直系同源

热门区域

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DNAAF3 - dynein axonemal assembly factor 3 Gene

关于 DNAAF3

功能概要

DNAAF3 基因产物(4)

DNAAF3 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

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