Ask about this productRelated genes to: EVX2 antibody
- Gene:
- EVX2 NIH gene
- Name:
- even-skipped homeobox 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1990-09-30
- Date modifiied:
- 2015-08-27
Related products to: EVX2 antibody
Related articles to: EVX2 antibody
- Synpolydactyly (SPD) is a heterogeneous distal-limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease-causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome-negative case of familial SPD. The case was resolved using long-read genome sequencing, which revealed a microdeletion in a conserved noncoding regulatory region upstream of the HOXD cluster. Oxford Nanopore WGS-LRS was pursued on two affected sisters, followed by CMA-Cytoscan HT validation. WGS-LRS for two affected siblings revealed a shared microdeletion of ~5.6 kb upstream of EVX2 and HOXD13 [chr2:176073523-176,079,120 (hg38)]. The deletion is predicted to affect the enhancer of several HOXD genes (EH38E2053988) and overlaps with a short stretch of high-sequence homology between human and mouse, called R1. CMA-Cytoscan HT analysis and PCR validation approved segregation of the deletion in the siblings and revealed a paternal inheritance. Our findings expand the genotype-phenotype correlation of the regulatory region upstream of HOXD13 in SPD and highlight the utility of long-read WGS for detecting noncoding variants that are undetectable by exome sequencing. - Source: PubMed
Publication date: 2025/05/30
Rips JonathanBirnbaum RivkaJalas ChaimFrumkin AyalaZenvirt ShamirRachanaev JuliaShaag AvrahamHarel TamarElpeleg OrlyMor-Shaked Hagar - Teratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of teratomas may provide a better understanding of their stepwise differentiation processes and molecular bases, which could prove useful for the development of tissue-engineering technologies. - Source: PubMed
Publication date: 2024/06/21
Wang Wen-ChungHou Tai-ChengKuo Chen-YunLai Yen-Chein - Calcium binding proteins are essential for neural development and cellular activity. Calretinin, encoded by calb2a and calb2b, plays a role during early zebrafish development and has been proposed as a marker for distinct neuronal populations within the locomotor network. We generated a calb2b:hs:eGFP transgenic reporter line to characterize calretinin expressing cells in the developing spinal cord and describe morphological and behavioral defects in calretinin knock-down larvae. eGFP was detected in primary and secondary motor neurons, as well as in dI6 and V0v interneurons. Knock-down of calretinin lead to disturbed development of motor neurons and dI6 interneurons, revealing a crucial role during early development of the locomotor network. Primary motor neurons showed delayed axon outgrowth and the distinct inhibitory CoLo neurons, originating from the dI6 lineage, were absent. These observations explain the locomotor defects we observed in calretinin knock-down animals where the velocity, acceleration and coordination were affected during escapes. Altogether, our analysis suggests an essential role for calretinin during the development of the circuits regulating escape responses and fast movements within the locomotor network. - Source: PubMed
Publication date: 2024/01/25
Iglesias Gonzalez Ana BelenKoning Harmen KornelisTuz-Sasik Melek Umayvan Osselen IlseManuel RemyBoije Henrik - Stroke genetic research has made substantial progress in the past decade. Its recovery application, however, remains behind, in part due to its reliance on the modified Rankin Scale (mRS) score as a measure of poststroke outcome. The mRS does not map well to biological processes because numerous psychosocial factors drive much of what the mRS captures. Second, the mRS contains multiple disparate biological events into a single measure further limiting its use for biological discovery. This led us to investigate the effect of distinct stroke recovery phenotypes on genetic variation associations with Genome-Wide Association Studies (GWASs) by repurposing the NIH Stroke Scale (NIHSS) and its subscores. - Source: PubMed
Publication date: 2024/01/05
Aldridge Chad MBraun RobynneLohse Keithde Havenon AdamCole John WCramer Steven CLindgren Arne GKeene Keith LHsu Fang-ChiWorrall Bradford B - V0v spinal interneurons are highly conserved, glutamatergic, commissural neurons that function in locomotor circuits. We have previously shown that Evx1 and Evx2 are required to specify the neurotransmitter phenotype of these cells. However, we still know very little about the gene regulatory networks that act downstream of these transcription factors in V0v cells. - Source: PubMed
Publication date: 2023/11/28
England Samantha JRusnock Amber KMujcic AmraKowalchuk Angelicade Jager SarahHilinski William CJuárez-Morales José LSmith Matthew EGrieb GinnyBanerjee SantanuLewis Katharine E