Harmonizome 3.0

scaffolding protein involved in DNA repair

Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. Implicated in 46 XX gonadal dysgenesis. [provided by Alliance of Genome Resources, Mar 2025]

mitochondrial calcium uptake family, member 3

Enables calcium channel regulator activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion and cellular response to calcium ion. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

mitochondrial calcium uptake 2

Enables several functions, including calcium channel regulator activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion; cellular response to calcium ion; and negative regulation of mitochondrial calcium ion concentration. Located in mitochondrial intermembrane space. Part of uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

mitochondrial calcium uptake 1

This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]

LLP homolog, long-term synaptic facilitation (Aplysia)

Enables RNA binding activity. Predicted to be involved in dendrite extension and positive regulation of dendritic spine development. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

regulating synaptic membrane exocytosis 4

Predicted to enable transmembrane transporter binding activity. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in several processes, including regulation of synapse organization; regulation of synaptic vesicle exocytosis; and synaptic vesicle exocytosis. Predicted to be located in synaptic membrane. Predicted to be active in glutamatergic synapse; presynaptic active zone cytoplasmic component; and presynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

regulating synaptic membrane exocytosis 1

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

regulating synaptic membrane exocytosis 2

The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]

regulating synaptic membrane exocytosis 3

Predicted to enable transmembrane transporter binding activity. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in several processes, including regulated exocytosis; regulation of synapse organization; and regulation of synaptic vesicle exocytosis. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including postsynaptic cytosol; presynaptic active zone cytoplasmic component; and presynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

synaptic vesicle glycoprotein 2A

The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]

synaptic vesicle glycoprotein 2C

Predicted to enable transmembrane transporter activity. Predicted to be involved in several processes, including chemical synaptic transmission; neurotransmitter transport; and regulation of synaptic vesicle exocytosis. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in dopaminergic synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Mar 2025]

synaptic vesicle glycoprotein 2B

This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]

LLP homolog, long-term synaptic facilitation (Aplysia) pseudogene

proline rich 7 (synaptic)

Enables long-chain fatty acid binding activity; protein tyrosine kinase binding activity; and ubiquitin-like protein ligase binding activity. Involved in positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity; and regulation of transcription by RNA polymerase I. Located in several cellular components, including cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

synaptic vesicle 2-related protein

synaptic Ras GTPase activating protein 1

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

inhibitory synaptic factor 2A

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

inhibitory synaptic factor family member 2B

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

inhibitory synaptic factor 1

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]