From: Identification of amygdala-expressed genes associated with autism spectrum disorder
Symbol | Cluster | Cluster ID | Description | Additional references |
---|---|---|---|---|
C13 | Fibrous astrocytes | Glial Fibrillary Acidic Protein encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Involved in responses to brain injury and disease states. | Edmonson et al., 2014. Altered glial marker expression in in autistic post-mortem prefrontal cortex and cerebellum. Molecular Autism. | |
C10 | Excitatory neurons | Potassium Voltage-Gated Channel Subfamily Q Member 3 gene encodes a protein involved in the regulation of neuronal excitability and responsiveness to synaptic inputs by contributing to the slow component of synaptic AHP (afterhyperpolarization) that determines the firing pattern of a neuron. Diseases associated with KCNQ3 include seizures, Benign Familial Neonatal convulsions type 2, and Benign Familial Neonatal Epilepsy. | Sands et al., 2019. Autism and developmental disability caused by KCNQ3 gain-of-function variants. Ann Neurol. | |
C10 | Excitatory neurons | PHD Finger Protein 21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that represses transcription of neuron-specific genes in non-neuronal cells through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS). Disorders associated with PHF21A include Potocki-Shaffer Syndrome and Parietal Foramina. | Kim et al., 2019. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Molecular Autism. | |
C10 | Excitatory neurons | RAN Binding Protein 17 is a nuclear pore-associated transport receptor, member of the importin-beta superfamily. The small GTPase RAN plays a key role in the import of proteins with a nuclear localization signal (NLS). RANBP17 expression decreases with aging and in human fetal brain exhibited higher expression in females. Lower expression may be linked to altered nuclear pore function. | Mertens et al., 2015. Directly reprogrammed human neurons retain aging-associated transcriptomic signatures and reveal age-related nucleocytoplasmic defects. Cell Stem Cell. | |
C10 | Excitatory neurons | Elongator Acetyltransferase Complex Subunit 4 encodes a component of the elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. Elongators may play a role in chromatin remodeling and regulate the maturation of cortical projection neurons. This gene has also been associated with Rolandic epilepsy. | Reinthaler et al., 2014. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia. | |
C10 | Excitatory neurons | Connector Enhancer of Kinase Suppressor of Ras 2 encodes a synaptic protein that functions as a scaffold in the postsynaptic density (PSD). CNKSR2 regulates Ras signaling, which controls neuronal proliferation, migration, differentiation, apoptosis and synaptogenesis. Diseases associated with CNKSR2 include: mental retardation, language deficits, attentional problems/hyperactivity, and brief childhood epilepsy. | AK Vaags, S Bowdin, ML Smith et al., 2014. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Ann Neurol. | |
C13 | Fibrous astrocytes | Neuron Navigator 2 encodes a member of the neuron navigator family. Highly expressed in fetal and adult brain, Nav2 is a retinoic acid-responsive gene involved in nervous system development. Nav2 may play a role in cellular growth, migration and neuronal development of different sensory organs. It possesses helicase activity and exonuclease activity. Diseases associated with NAV2 include neuroblastoma. | Marzinke MA, Mavencamp T, Duratinsky J, Clagett-Dame M. 2013. 14-3-3ε and NAV2 interact to regulate neurite outgrowth and axon elongation. Arch Biochem Biophys. |