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)
End	30,393,849 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	62,862,317 bp
RNA expression pattern
	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
	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
	89832
	11441
	ENSG00000275917; ENSG00000166664
	ENSMUSG00000030525
	Q494W8; P36544
	P49582
	NM_139320; NM_148911
	NM_007390
	NP_647536; NP_683709; NP_000737; NP_001177384
	NP_031416
	Wikidata
View/Edit Human	View/Edit Mouse

CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.

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. CHRFAM7A has not been found in nonhuman primates, and its occurrence in individuals of African descent is significantly lower than in Caucasian populations.