SCYL2

Last update 08 May 2025

Basic Info

Synonyms

Coated vesicle-associated kinase of 104 kDa, CVAK104, KIAA1360

+ [5]

Introduction

Component of the AP2-containing clathrin coat that may regulate clathrin-dependent trafficking at plasma membrane, TGN and endosomal system (Probable). A possible serine/threonine-protein kinase toward the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine has not been confirmed (PubMed:15809293, PubMed:16914521). By regulating the expression of excitatory receptors at synapses, plays an essential role in neuronal function and signaling and in brain development (By similarity).

100 Clinical Results associated with SCYL2

100 Translational Medicine associated with SCYL2

0 Patents (Medical) associated with SCYL2

Literatures (Medical) associated with SCYL2

01 Jan 2025·Tropical Animal Health and Production

Genome-wide association studies of milk composition traits in indicine Badri cattle using ddRAD sequencing approach

Article

Author: Ghosh, Ashis Kumar ; Dar, Aashaq Hussain ; Kumar, Devendra ; Rahman, Javid Ur ; Singh, Satya Pal ; Togla, Oshin ; Shahi, Bijendra Narayan

Genome-wide association studies (GWAS) offer potential for discovering genomic regions that can be exploited to increase milk production. However, available GWAS and single nucleotide polymorphism (SNP) datasets are heavily skewed towards taurine breeds, which restricts their utility for genomic research in indicine cattle breeds. This study conducts a GWAS on the Badri breed of Indicine cattle to estimate variance components and identify significant variants associated with milk composition traits, utilizing double digest restriction-site associated DNA (ddRAD) sequencing data. A total of 65,483 high-confidence SNPs were identified and utilized to conduct GWAS on various milk composition traits, including fat percent (FP), protein percent (PP), casein percent (CP), lactose percent (LP), glucose percent (GP), galactose percent (GLP), total solids percent (TS), and solids-not-fat percent (SNF), each analysed separately. The heritability estimates for the studied milk composition traits were 0.386 for fat percent (FP), 0.427 for protein percent (PP), 0.469 for casein percent (CP), 0.567 for lactose percent (LP), 0.547 for glucose percent (GP), 0.590 for galactose percent (GLP), 0.437 for total solids percent (TS), and 0.476 for solids-not-fat percent (SNF). Several genomic regions and candidate genes, including SLC9A9, LPP, C2H2orf76, LGSN, HMGCS2, Bv1, SCYL2, PLAC8, SRGAP2, CR2, ZNF787, OTUB2, DSC2, SYNPO2, and CTNNA3 which may have a potential role in regulating milk production in indicine cattle were identified. The high confidence SNPs and candidate genes will be an important inclusion into commercial genotyping arrays for the early and best selection of breeding animals for desired milk composition and improved production.

01 Dec 2024·Clinical Genetics

SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?

Article

Author: Sheth, Harsh ; Philippe, Christophe ; Brasseur‐Daudruy, Marie ; Brehin, Anne‐Claire ; Thauvin‐Robinet, Christel ; Monaghan, Kristin G. ; Faivre, Laurence ; Safraou, Hana ; Vera, Gabriella ; Benke, Paul J. ; Marguet, Florent ; Sheth, Jayesh ; Begtrup, Amber ; Mau‐Them, Frédéric Tran ; Duffourd, Yannis ; Schnur, Rhonda E. ; Shapiro, Faye L. ; Malbos, Marlène ; Bruel, Ange‐Line ; Juven, Aurélien ; Gandhi, Ajit

AbstractSCY1‐like protein 2 (SCYL2) is a member of the SCY1‐like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction. Bi‐allelic loss‐of‐function (LOF) variants in SCYL2 were recently associated with arthrogryposis multiplex congenita‐4 (AMC4) following the report of 6 individuals from two consanguineous unrelated families. The AMC4 phenotype described included severe arthrogryposis, corpus callosum agenesis, epilepsy and frequently, early death. We describe here two additional similarly affected individuals with AMC4, including one diagnosed in the prenatal period, with bi‐allelic LOF variants in SCYL2, and two individuals homozygous for missense variants in the protein kinase domain of SCYL2 and presenting with developmental delay only. Our study confirms the association of SCYL2 with AMC4 and suggests a milder phenotype can occur, extending the phenotypic spectrum of autosomal recessive SCYL2‐related disorders.

01 Jun 2024·Plant Science

A SCYL2 gene from Oryza sativa is involved in phytosterol accumulation and regulates plant growth and salt stress

Review

Author: Tu, Yaling ; Wang, Yanping ; Ni, Ying ; Zhang, Xin ; Xu, Minyan ; Jiao, Yuhuan ; Zhang, Zhi

Rice is a crucial food for humans due to its high nutritional value. Phytosterols, essential components of the plant membrane lipid bilayer, play a vital role in plant growth and contribute significantly to lipid-lowering, antitumor, and immunomodulation processes. In this study, SCY1-like protein kinases 2 (SCYL2) was found to be closely related to the accumulation of phytosterols. The levels of campesterol, stigmasterol, and β-sitosterol significantly increased in transgenic rice seeds, husks, and leaves, whereas there was a considerable reduction in scyl2 plants. Subsequent investigations revealed the crucial role of SCYL2 in plant development. Mutations in this gene led to stunted plant growth while overexpressing OsSCYL2 in Arabidopsis and rice resulted in larger leaves, taller plants, and accelerated development. When subjected to salt stress, Arabidopsis plants overexpressed OsSCYL2 showed significantly higher germination rates than wild-type plants. Similarly, transgenic rice seedlings displayed better growth than both ZH11 and mutant plants, exhibiting lower malondialdehyde (MDA) content and higher peroxidase (POD), and catalase (CAT) activities. Conversely, scyl2 plants exhibited more yellow leaves or even death. These findings suggested that OsSCYL2 proteins might be involved in phytosterols synthesis and play an important role during plant growth and development. This study provides a theoretical basis for developing functional rice.

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SCYL2

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