ANKRD17
- Known as:
- ANKRD17
- Catalog number:
- 001610A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ANKRD17
Related genes to: ANKRD17
- Gene:
- ANKRD17 NIH gene
- Name:
- ankyrin repeat domain 17
- Previous symbol:
- -
- Synonyms:
- GTAR, KIAA0697, FLJ22206, NY-BR-16, MASK2
- Chromosome:
- 4q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-25
- Date modifiied:
- 2016-10-05
Related products to: ANKRD17
Related articles to: ANKRD17
- Chung-Jansen syndrome (CHUJANS) is a rare autosomal dominant genetic condition caused by pathogenic variants in the gene, which encodes a protein involved in neurodevelopmental processes and IGF-1 signalling. The phenotype is characterised by variable degrees of intellectual disability, early-onset obesity or overweight, distinctive facial dysmorphisms, and behavioural disturbances. We here present a case of Chung-Jansen syndrome with a detailed endocrine work-up, highlighting the metabolic component of this syndrome. We describe the case of a 21-year-old woman referred to our centre for evaluation of oligomenorrhea in the context of severe obesity (BMI 50.4 kg/m), short stature (151 cm, <3rd percentile), and moderate-to-severe intellectual disability (full-scale IQ 38). Physical examination revealed dysmorphic features, including a round face, upslanting palpebral fissures, prominent zygomatic bones, anteverted nares, a prominent chin, and bilateral brachydactyly type E1. Laboratory investigations documented subclinical primary hypothyroidism of autoimmune origin, impaired glucose tolerance with associated hyperinsulinism, and polyendocrine metabolic ovarian syndrome (PMOS, previously known as PCOS). Exome analysis by next-generation sequencing (NGS) identified a heterozygous c.328C>T [p.(Arg110Cys)] variant in the gene, already reported in literature and classified as likely pathogenic (ACMG class 4). Segregation analysis in the mother (father was not available for the test) did not reveal the variant, suggesting a de novo origin in the patient. Concurrently, the same analysis revealed a variant of uncertain significance in the gene, while array-CGH detected a maternally inherited microdeletion of uncertain significance on chromosome X (Xp11.23). This case confirms the association between the p.(Arg110Cys) variant and the phenotype of Chung-Jansen syndrome, providing a detailed characterisation of the endocrine and psychiatric comorbidities. Indeed, our report expands the knowledge on the endocrine phenotype providing further suggestion for personalised patient management. It underscores the importance of NGS in the diagnostic workup of syndromic obesity with intellectual disability, especially in the presence of negative family history and prior inconclusive genetic testing. This case suggests the inclusion of comprehensive endocrine evaluations in future studies on patients with Chung-Jansen syndrome, in order to support endocrine work-up and facilitate early identification and appropriate management of potentially treatable alterations. - Source: PubMed
Publication date: 2026/06/13
Donno FrancescoBianco FedericaSchininà RobertaSelvatici RitaStoico GiuseppinaFerlini AlessandraGobbo AlbertoZatelli Maria ChiaraBigoni StefaniaAmbrosio Maria Rosaria - The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic liability across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries (GALA) Consortium was formed, presenting here the largest sequencing study of autism in Latin American individuals (n > 15,000, including 4,717 participants with an ASD diagnosis). We identified 35 genome-wide significant (false discovery rate < 0.05) autism-associated genes, with substantial overlap with findings from European cohorts, and highly constrained genes showing consistent signal across populations. The results provide support for emerging (for example, MARK2, YWHAG, PACS1, RERE, SPEN, GSE1, GLS, TNPO3 and ANKRD17) and established autism genes and for the utility of genetic testing approaches for deleterious variants in individuals from diverse backgrounds; the results also demonstrate the ongoing need for more inclusive genetic research and testing. We conclude that the biology of autism is consistent across populations, with no detectable influence of ancestry. - Source: PubMed
Publication date: 2026/03/30
Natividad Avila MarinaJung SeulgiSatterstrom F KyleFu Jack MLevy TessSloofman Laura GKlei LambertusPichardo TharianaMarquez DaliaStevens Christine RCusick Caroline MAmes Jennifer LCampos Gabriele SCerros HildaChaskel RobertoCosta Claudia I SCuccaro Michael LLopez Andrea Del PilarFernandez MagdalenaFerro EugenioGaleano LilianaGirardi Ana Cristina D E SGriswold Anthony JHernandez Luis CLourenço NailaLudena YuninNúñez-Ríos DianaOyama RosaPeña Katherine PPessah IsaacSchmidt RebeccaSweeney Holly MTolentino LizbethWang Jaqueline Y TAlbores-Gallo LiliaCroen Lisa ACruz-Fuentes Carlos SHertz-Picciotto IrvaKolevzon AlexanderLattig Maria ClaudiaMayo LilianaPassos-Bueno Maria RitaPericak-Vance Margaret ASiper Paige MTassone FloraTrelles M Pilar Talkowski Michael EDaly Mark JMahjani BehrangDe Rubeis SilviaCook Edwin HRoeder KathrynBetancur CatalinaDevlin BernieBuxbaum Joseph D - Short linear motifs (SLiMs) are the most ubiquitous protein interaction motifs within unstructured regions of the human proteome, yet their contribution to cellular homeostasis remains poorly understood. Here, to systematically assess SLiM function, we applied base editing to mutate all reported and a set of computationally predicted SLiMs defined by SLiM-like evolutionary patterns. By screening 7,293 SLiM-containing regions with 80,473 mutations in HAP1 cells, we define a SLiM dependency map identifying 450 reported and 264 predicted SLiMs required for normal cell proliferation. Mutational consequences were highly reproducible in RPE1 cells, with differences attributed to cell-line-specific gene essentiality. We show that many predicted SLiMs affecting proliferation do not belong to existing classes and identify binding partners for several of these, providing mechanistic insight into a disease-associated ANKRD17 mutation. Our study provides a proteome-wide resource on SLiM essentiality uncovering numerous uncharacterized essential SLiMs. - Source: PubMed
Publication date: 2026/03/06
Ambjørn Sara MMeeusen BobKliche JohannaWang JuanjuanGarvanska Dimitriya HKruse ThomasLopez Mendez BlancaMann MatthiasMailand NielsHertz Emil P TDavey Norman ENilsson Jakob - ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray analysis (CMA), we identified two unrelated cases with novel de novo heterozygous ANKRD17 variants. Case 1 describes a fetus with multiple congenital anomalies, where genetic analysis revealed a microdeletion at 4q13.3 truncating the ANKRD17 gene. Case 2 involves a 12-year-old male presenting with mild ID and progressive social impairments, associated with a NM_032217.5: c.1252 C > T (p.Arg418*) variation in ANKRD17. Our study highlighted in mouse models an association between Ankrd17 haploinsufficiency and deficits in social behavior, spatial learning and memory, as well as elevated anxiety. Furthermore, our studies suggest dysregulation of synaptic proteins and mitochondrial function, along with impaired neural circuits following Ankrd17 knockdown. These results expand the genetic and phenotypic spectrum of ANKRD17-related disorders, underscore the critical role of mitochondrial dysfunction in the pathophysiology of ANKRD17-related ID and ASD. - Source: PubMed
Publication date: 2025/07/02
Xia DanXu YuanyuanHe ZhanwenChen RuiXiao XiaoqinLi XiaojuanDeng KewenDeng ShuyunZhang LinaZhang JiemingPeng XiaofangMeng ZheWu RuohaoWang DilongLiu ZulinChen HuiLi LuLiang Liyang - Metastasis is the primary cause of high mortality in patients with hepatocellular carcinoma (HCC) . A prior study identified ankyrin repeat domain 17 () as a key gene linked to HCC metastasis. Through reverse genetics, it was observed that mouse liver tumors overexpressing exhibited a higher tumor load and increased expression of endothelial-mesenchymal transition (EMT) markers. Similarly, overexpression in human liver cell lines resulted in an amplified cellular motility and invasion capability, whereas knockdown studies reversed this effect. Abnormal regulation of signaling pathways was linked to increased metastasis and survival in cells overexpressing . Notably, the pro-metastatic discoidin domain receptor tyrosine kinase 1 () gene was upregulated in these cells, and its suppression reduced motility and invasion without affecting AKT signaling. Clinically, higher expression correlated with aggressive HCC progression. These findings suggest that enhances metastatic progression in HCC by activating pro-metastatic and pro-survival pathways. - Source: PubMed
Publication date: 2025/04/17
Keng Vincent WSu ShanChui Elyse S TTo Jeffrey CZhang Yao-JunLi Xiao-Xiao