2. Gene
  3. DNAH2 - dynein axonemal heavy chain 2 Gene

DNAH2 - dynein axonemal heavy chain 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：动力蛋白轴丝重链 2

种属: Homo sapiens

同用名: DNHD3; DNAHC2; SPGF45

基因 ID: 146754 | 基因类型: protein coding

关于 DNAH2

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,717,744-7,833,742 (from NCBI)

This gene has 6 transcripts (splice variants), 194 orthologues, 15 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 2.3), lung (RPKM 0.5) and 2 other tissues.

功能概要

动力蛋白是由几条重链、轻链和中间链组成的微管相关运动蛋白复合物。在纤毛和鞭毛中发现的轴丝动力蛋白是附着在外周微管双联体上的外动力蛋白臂和内动力蛋白臂的组成部分。 DNAH2 是轴丝内臂动力蛋白重链 (Chapelin 等人，1997 [PubMed 9256245]) 。[OMIM 提供，2008 年 3 月]

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]

DNAH2 基因产物(2)

mRNA Protein Name
NM_001303270.2 NP_001290199.1 dynein axonemal heavy chain 2 isoform 2
NM_020877.5 NP_065928.2 dynein axonemal heavy chain 2 isoform 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium-dependent cell motility IMP
IMP: 通过突变表型推断
30811583 GOA
involved in inner dynein arm assembly IMP
IMP: 通过突变表型推断
30811583 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
31178125 GOA
part of inner dynein arm IMP
IMP: 通过突变表型推断
30811583 GOA
located in motile cilium IDA
IDA: 通过直接分析推断
31178125 GOA
located in sperm flagellum IDA
IDA: 通过直接分析推断
31178125 GOA
located in sperm flagellum IMP
IMP: 通过突变表型推断
30811583 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

DNAH2 蛋白结构

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (238 - 392)

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (413 - 718)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1218 - 1629)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1765 - 1994)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2080 - 2221)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2380 - 2647)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2732 - 2993)

MT

MT: Microtubule-binding stalk of dynein motor (3006 - 3338)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3360 - 3586)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3722 - 4423)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4200
  • 4427 a.a.
蛋白主名 其他名称

dynein axonemal heavy chain 2

axonemal beta dynein heavy chain 2

关联疾病

疾病名称 别名
Spermatogenic Failure 45

SPGF45
Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03848 DNAH2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DNAH2 VGNC VGNC:71940
Bos taurus DNAH2 VGNC VGNC:28125
Rattus norvegicus DNAH2 RGD RGD:1565087
Felis catus DNAH2 VGNC VGNC:61543
Mus musculus DNAH2 MGD MGI:107731
Canis familiaris DNAH2 VGNC VGNC:57368
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