2. Gene
  3. TTC12 - tetratricopeptide repeat domain 12 Gene

TTC12 - tetratricopeptide repeat domain 12 Gene

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

中文名称：四肽重复结构域 12

种属: Homo sapiens

同用名: TPARM; CILD45

基因 ID: 54970 | 基因类型: protein coding

关于 TTC12

Cytogenetic location: 11q23.2 Genomic coordinates (GRCh38): 11:113,314,583-113,373,297 (from NCBI)

This gene has 22 transcripts (splice variants), 124 orthologues, 18 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 10.6), thyroid (RPKM 3.1) and 21 other tissues.

功能概要

参与轴丝动力蛋白复合物组装和精子轴丝组装。位于中心体和细胞质中。涉及原发性纤毛运动障碍 45。[由基因组资源联盟提供，2022 年 4 月]

Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in centrosome and cytoplasm. Implicated in primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Apr 2022]

TTC12 基因产物(6)

mRNA Protein Name
NM_001318533.2 NP_001305462.1 tetratricopeptide repeat protein 12 isoform 1
NM_001352037.2 NP_001338966.1 tetratricopeptide repeat protein 12 isoform 3
NM_001378063.1 NP_001364992.1 tetratricopeptide repeat protein 12 isoform 5
NM_001378064.1 NP_001364993.1 tetratricopeptide repeat protein 12 isoform 2
NM_001378065.1 NP_001364994.1 tetratricopeptide repeat protein 12 isoform 2
NM_017868.4 NP_060338.3 tetratricopeptide repeat protein 12 isoform 2
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
25416956 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
31978331 GOA
involved in sperm axoneme assembly IMP
IMP: 通过突变表型推断
31978331 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
23300604 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
31978331 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

TTC12 蛋白结构

TPR_11

TPR_11: TPR repeat (105 - 170)

TPR_2

TPR_2: Tetratricopeptide repeat (175 - 206)

  • 0
  • 200
  • 400
  • 600
  • 705 a.a.
蛋白主名 其他名称

tetratricopeptide repeat protein 12

TPR repeat protein 12

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 45

CILD45

Ciliary Dyskinesia, Primary, 45, Without Situs Inversus

Primary Ciliary Dyskinesia 45

Primary Ciliary Dyskinesia 45 Without Situs Inversus
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
Drug Dependence
Voyeurism
Heroin Dependence
Exhibitionism
Cannabis Dependence

Marijuana Abuse

Cannabinoid Addiction

Cannabinoid Dependence

Cannabis Addiction
Hallucinogen Dependence

Hallucinogen Addiction
Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic
Pathological Gambling

Compulsive Gambling

Gambling

Gambling, Pathological

Addiction

Betting

Addiction

Gambling

Betting

Pathological

Gambling

Dependence
Paraphilia Disorder

Paraphilia

Paraphilias
Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome
Opiate Dependence

Opioid Dependence

Opioid Addiction

Opiate Addiction

Opioid Type Dependence

Opioid-Related Disorders

Opium Dependence

Narcotic Dependence

Intravenous Narcotism

Narcotism Nos

Oral Narcotism Nos
Cocaine Dependence
Substance Dependence
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity
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-RS15196 TTC12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus TTC12 MGD MGI:2444588
Rattus norvegicus TTC12 RGD RGD:1303264
Bos taurus TTC12 VGNC VGNC:36454
Macaca mulatta TTC12 VGNC VGNC:79401
Felis catus TTC12 VGNC VGNC:66651
Canis familiaris TTC12 VGNC VGNC:47937
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