HEATR2

Last update 08 May 2025

Basic Info

Synonyms

CILD18, DNAAF5, dynein axonemal assembly factor 5

+ [6]

Introduction

Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

100 Clinical Results associated with HEATR2

100 Translational Medicine associated with HEATR2

0 Patents (Medical) associated with HEATR2

Literatures (Medical) associated with HEATR2

01 May 2024·Archives of Disease in Childhood

Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations

Article

Author: Golan Tripto, Inbal ; Goldbart, Aviv D ; Gatt, Dvir ; Arwas, Noga ; Aviram, Micha ; Hazan, Guy ; Levanon, Eran ; Alkrinawi, Soliman

BackgroundThe American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia (PCD) consider the presence of a bi-allelic pathogenic variant confirmatory for the diagnosis of PCD, with genetic testing recommended when other confirmatory diagnostic tests are less accessible. We present our experience with genetic testing as first line with a proposed algorithm for high consanguinity populations.MethodsPatients with a suspected diagnosis of PCD underwent genetic testing according to a diagnostic algorithm composed of three steps: (1) patients with a previously known causative familial/Bedouin tribal pathogenic variant completed direct testing for a single variant; (2) if the initial test was negative or there was no known pathogenic variant, a PCD genetic panel was completed; (3) if the panel was negative, whole exome sequencing (WES) was completed.ResultsSince the implementation of the protocol, diagnosis was confirmed by genetic testing in 21 patients. The majority of them were of Bedouin origin (81%) and had a positive history of consanguinity (65%). Nine patients (43%) had a sibling with a confirmed diagnosis. Most patients (15/21, 71%) were diagnosed by direct pathogenic variant testing and the remainder by genetic panel (19%) and WES (10%). Disease-causing variants were found in nine genes, withDNAL1(24%) andDNAAF3,DNAAF5,ZMYND10(14% each) as the most prevalent ones.ConclusionsIn highly consanguineous regions, a stepwise genetic testing approach is recommended. This approach may be particularly useful in areas where the ability to obtain confirmatory diagnostic tests through other modalities is less accessible.

01 Apr 2024·Poultry Science

Identification of candidate genes affecting the tibia quality in Nonghua duck

Article

Author: Liu, Hehe ; Lu, Yinjuan ; Yang, Qinglan ; Wei, Bin ; Bai, Yuan ; Xu, Mengru ; He, Xinxin ; Zhang, Tao ; Han, Xu ; Bai, Lili ; Jiang, Shuaixue ; Li, Liang ; Hu, Jiwei ; Tao, Qiuyu

The skeleton is a vital organ providing structural support in poultry. Weakness in bone structure can lead to deformities, osteoporosis, cage fatigue, and fractures, resulting in economic losses. Research has substantiated that genetic factors play a significant role in influencing bone quality. The discovery of genetic markers associated with bone quality holds paramount importance for enhancing genetic traits related to the skeletal system in poultry. This study analyzed nine phenotypic indicators of tibia quality in 120-day-old ducks. The phenotypic correlation revealed a high correlation among diameter, Perimeter, and weight (0.69-0.78), and a strong correlation was observed between toughness and breaking strength (0.62). Then, we conducted a genome-wide association analysis of the phenotypic indicators to elucidate the genetic basis of tibial quality in Nonghua ducks. Among the 11 candidate genes that were annotated, TAPT1, BST1, and STIM2 were related to the diameter indicator, ZNF652, IGF2BP1, CASK, and GREB1L were associated with the weight and toughness indicators. RFX8, GLP1R, and DNAAF5 were identified for ash, calcium, and phosphorus content, respectively. Finally, KEGG and GO analysis for annotated genes were performed. STIM2 and BST1 were enriched into the Calcium signalling pathway and Niacin and nicotinamide metabolic pathway, which may be key candidate genes affecting bone quality phenotypes. Gene expression analysis of the candidate genes, such as STIM2, BST1, TAPT1, and CASK showed higher expression levels in bones compared to other tissues. The obtained results can contribute to new insights into tibial quality and provide new genetic biomarkers that can be employed in duck breeding.

01 Sep 2023·Movement Disorders

Genome‐Wide Meta‐Analysis of Cerebrospinal Fluid Biomarkers in Alzheimer's Disease and Parkinson's Disease Cohorts

Article

Author: Singleton, Andrew B. ; Leonard, Hampton L. ; Ta, Michael ; Antar, Tarek ; Blauwendraat, Cornelis ; Nalls, Mike A. ; Iwaki, Hirotaka

AbstractBackgroundAmyloid‐β, phosphorylated tau (p‐tau), and total tau (t‐tau) in cerebrospinal fluid are established biomarkers for Alzheimer's disease (AD). In other neurodegenerative diseases, such as Parkinson's disease (PD), these biomarkers have also been found to be altered, and the molecular mechanisms responsible for these alterations are still under investigation. Moreover, the interplay between these mechanisms and the diverse underlying disease states remains to be elucidated.ObjectiveTo investigate genetic contributions to the AD biomarkers and assess the commonality and heterogeneity of the associations per underlying disease status.MethodsWe conducted genome‐wide association studies (GWASs) for the AD biomarkers on subjects from the Parkinson's Progression Markers Initiative, the Fox Investigation for New Discovery of Biomarkers, and the Alzheimer's Disease Neuroimaging Initiative, and meta‐analyzed with the largest AD GWAS. We tested heterogeneity of associations of interest between different disease statuses (AD, PD, and control).ResultsWe observed three GWAS signals: the APOE locus for amyloid‐β, the 3q28 locus between GEMC1 and OSTN for p‐tau and t‐tau, and the 7p22 locus (top hit: rs60871478, an intronic variant for DNAAF5, also known as HEATR2) for p‐tau. The 7p22 locus is novel and colocalized with the brain DNAAF5 expression. Although no heterogeneity from underlying disease status was observed for the earlier GWAS signals, some disease risk loci suggested disease‐specific associations with these biomarkers.ConclusionsOur study identified a novel association at the intronic region of DNAAF5 associated with increased levels of p‐tau across all diseases. We also observed some disease‐specific genetic associations with these biomarkers. Published 2023. This article is a U.S. Government work and is in the public domain in the USA.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

HEATR2

Basic Info

Related

Analysis