2. Gene
  3. DNAH12 - dynein axonemal heavy chain 12 Gene

DNAH12 - dynein axonemal heavy chain 12 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 12

种属: Homo sapiens

同用名: DHC3; DLP3; HL19; DLP12; DNHD2; HDHC3; HL-19; DNAH7L; DNAHC3; DNAH12L; DNAHC12

基因 ID: 201625 | 基因类型: protein coding

关于 DNAH12

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:57,293,700-57,556,034 (from NCBI)

This gene has 9 transcripts (splice variants), 278 orthologues and 15 paralogues. Biased expression in testis (RPKM 1.9), lung (RPKM 0.7) and 2 other tissues.

功能概要

预计将启用多种功能，包括 ATP 绑定活动；动力蛋白中间链结合活性；和动力蛋白轻链中间链结合活性。预计参与基于微管的运动。预测位于纤毛中；细胞质；和微管。预计是动力蛋白复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable several functions, including ATP binding activity; dynein intermediate chain binding activity; and dynein LIGHT intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cilium; cytoplasm; and microtubule. Predicted to be part of dynein complex. [provided by Alliance of Genome Resources, Apr 2022]

DNAH12 基因产物(2)

mRNA Protein Name
NM_001366028.2 NP_001352957.1 dynein axonemal heavy chain 12 isoform 4
NM_198564.4 NP_940966.2 dynein axonemal heavy chain 12 isoform 2

DNAH12 蛋白结构

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (675 - 1090)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1215 - 1442)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (1530 - 1672)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (1856 - 2126)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2224 - 2299)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (2378 - 3089)

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  • 3092 a.a.
蛋白主名 其他名称

dynein axonemal heavy chain 12

axonemal beta dynein heavy chain 12

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 3

Primary Ciliary Dyskinesia 3

CILD3

Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 3 With Or Without Situs Inversus

Ics3

Immotile Cilia Syndrome 3

Dyskinesia, Ciliary, Primary, 3
Sulfonamide Allergy
Papillary Craniopharyngioma

Craniopharyngioma, Papillary

Papillary Rathke'S Pouch Tumor

Craniopharyngioma Papillary
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-RS03845 DNAH12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DNAH12 RGD RGD:619990
Canis familiaris DNAH12 VGNC VGNC:81894
Mus musculus DNAH12 MGD MGI:107720
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