TTC12 - tetratricopeptide repeat domain 12 Gene

Also Known as TPARM; CILD45

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54970

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in axonemal dynein complex assembly IMP
IMP: Inferred from mutant phenotype
31978331 GOA
involved in sperm axoneme assembly IMP
IMP: Inferred from mutant phenotype
31978331 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
23300604 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
31978331 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTC12 Protein Structure

TPR_11

TPR_11: TPR repeat (105 - 170)

TPR_2

TPR_2: Tetratricopeptide repeat (175 - 206)

  • 0
  • 200
  • 400
  • 600
  • 705 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 12

  • TPR repeat protein 12

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15196 TTC12 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others TTC12 NCBI