DNAI2 - dynein axonemal intermediate chain 2 Gene

中文名称：动力蛋白轴丝中间链 2

种属: Homo sapiens

同用名: DIC2; CILD9

基因 ID: 64446 | 基因类型: protein coding

关于 DNAI2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,274,234-74,314,884 (from NCBI)

This gene has 6 transcripts (splice variants), 98 orthologues, 7 paralogues and is associated with 2 phenotypes. Restricted expression toward testis (RPKM 10.6).

功能概要

该基因编码的蛋白质属于动力蛋白中间链家族，是呼吸纤毛和精子鞭毛动力蛋白复合体的一部分。该基因的突变与 9 型原发性纤毛运动障碍有关。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 3 月]

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

DNAI2 基因产物(3)

mRNA	Protein	Name
NM_001172810.3	NP_001166281.1	dynein axonemal intermediate chain 2 isoform 2
NM_001353167.2	NP_001340096.1	dynein axonemal intermediate chain 2 isoform 3
NM_023036.6	NP_075462.3	dynein axonemal intermediate chain 2 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 microtubule motor activity	IMP IMP: 通过突变表型推断	11153919	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25232951	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within cilium assembly	IMP IMP: 通过突变表型推断	11153919	GOA
acts upstream of or within cilium movement	IMP IMP: 通过突变表型推断	18950741	GOA
acts upstream of or within determination of left/right symmetry	IMP IMP: 通过突变表型推断	18950741	GOA
acts upstream of or within outer dynein arm assembly	IMP IMP: 通过突变表型推断	18950741	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of axonemal dynein complex	IMP IMP: 通过突变表型推断	11153919	GOA
located in axoneme	IDA IDA: 通过直接分析推断	18950741	GOA
located in axoneme	IMP IMP: 通过突变表型推断	11153919	GOA
part of outer dynein arm	IMP IMP: 通过突变表型推断	18950741	GOA
located in sperm flagellum	IDA IDA: 通过直接分析推断	18950741	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

DNAI2 蛋白结构

WD40

0
100
200
300
400
500
605 a.a.

蛋白主名

其他名称

dynein axonemal intermediate chain 2

dynein, axonemal, intermediate polypeptide 2

关联疾病

疾病名称

别名

Ciliary Dyskinesia, Primary, 9

CILD9	Primary Ciliary Dyskinesia 9
Primary Ciliary Dyskinesia 9 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 9, With Or Without Situs Inversus
Ics9	Immotile Cilia Syndrome 9
Dyskinesia, Ciliary, Primary, 9

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

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 10

Primary Ciliary Dyskinesia 10	CILD10
Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus
Ics10	Immotile Cilia Syndrome 10
Dyskinesia, Ciliary, Primary, 10

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2

SEMDJL2	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type
Semd-Md	Spondyloepimetaphyseal Dysplasia With Joint Laxicity, Hall Type
Spondyloepimetaphyseal Dysplasia With Joint Laxity, 2	Lepto-Semdjl
Spondyloepimetaphyseal Dysplasia With Joint Laxity Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome	ODRMD
Optic Disk Anomalies With Retinal And/Or Macular Dystrophy

Acute Retrobulbar Neuritis

Retrobulbar Neuritis

Retrobulbar Optic Neuritis

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

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

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

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-RS03856	DNAI2 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	DNAI2	VGNC	VGNC:61548
Canis familiaris	DNAI2	VGNC	VGNC:40021
Macaca mulatta	DNAI2	VGNC	VGNC:71860
Bos taurus	DNAI2	VGNC	VGNC:28130
Mus musculus	DNAI2	MGD	MGI:2685574
Rattus norvegicus	DNAI2	RGD	RGD:1359602

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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

粤ICP备2021105330号-3

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）

DNAI2 - dynein axonemal intermediate chain 2 Gene

关于 DNAI2

功能概要

DNAI2 基因产物(3)

DNAI2 蛋白结构

关联疾病

直系同源

热门区域

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DNAI2 - dynein axonemal intermediate chain 2 Gene

关于 DNAI2

功能概要

DNAI2 基因产物(3)

DNAI2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z