CHRFAM7A

CHRFAM7A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5AFK, 5AFJ, 5AFL, 2MAW, 5AFN, 5AFM, 5AFH
Identifiers
Aliases	CHRFAM7A, CHRNA7, CHRNA7-DR1, D-10, CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion, NACHRA7
External IDs	OMIM: 609756; MGI: 99779; GeneCards: CHRFAM7A; OMA:CHRFAM7A - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q13.2 Start 30,360,566 bp[1] End 30,393,849 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 C|7 34.47 cM Start 62,748,440 bp[2] End 62,862,317 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad testicle Achilles tendon Descending thoracic aorta monocyte ascending aorta bone marrow right lung thyroid gland smooth muscle tissue Top expressed in trigeminal nerve dentate gyrus of hippocampal formation granule cell lumbar spinal ganglion primary visual cortex tail of embryo autonomic nervous system superior frontal gyrus sympathetic ganglion paravertebral ganglia tongue More reference expression data BioGPS n/a
Gene ontology Molecular function extracellular ligand-gated ion channel activity ion channel activity transmembrane signaling receptor activity acetylcholine receptor activity acetylcholine binding protein binding protein homodimerization activity acetylcholine-gated cation-selective channel activity amyloid-beta binding chloride channel regulator activity toxic substance binding ligand-gated ion channel activity calcium channel activity Cellular component integral component of membrane membrane integral component of plasma membrane acetylcholine-gated channel complex neuron projection synapse postsynaptic membrane plasma membrane cell junction plasma membrane raft postsynapse Biological process ion transmembrane transport ion transport signal transduction chemical synaptic transmission synaptic transmission, cholinergic regulation of membrane potential nervous system process response to hypoxia cognition cellular calcium ion homeostasis positive regulation of angiogenesis positive regulation of cell population proliferation transport calcium ion transport memory negative regulation of tumor necrosis factor production response to nicotine regulation of postsynaptic membrane potential excitatory postsynaptic potential positive regulation of protein phosphorylation learning or memory short-term memory synapse organization sensory processing positive regulation of ERK1 and ERK2 cascade calcium ion transmembrane transport acetylcholine receptor signaling pathway dendritic spine organization modulation of excitatory postsynaptic potential dendrite arborization positive regulation of long-term synaptic potentiation regulation of neuron death positive regulation of amyloid-beta formation negative regulation of amyloid-beta formation regulation of amyloid precursor protein catabolic process response to amyloid-beta response to acetylcholine regulation of amyloid fibril formation positive regulation of CoA-transferase activity positive regulation of excitatory postsynaptic potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 89832 11441 Ensembl ENSG00000275917 ENSG00000166664 ENSMUSG00000030525 UniProt Q494W8 P36544 P49582 RefSeq (mRNA) NM_139320 NM_148911 NM_007390 RefSeq (protein) NP_647536 NP_683709 NP_000737 NP_001177384 NP_031416 Location (UCSC) Chr 15: 30.36 – 30.39 Mb Chr 7: 62.75 – 62.86 Mb PubMed search [3] [4]
Wikidata
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CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.^[5][6]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed.^[6] CHRFAM7A has not been found in nonhuman primates, and its occurrence in individuals of African descent is significantly lower than in Caucasian populations.^[7]

• Human CHRFAM7A genome location and CHRFAM7A gene details page in the UCSC Genome Browser.
• Human CHRNA7 genome location and CHRNA7 gene details page in the UCSC Genome Browser.

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