GO ID | GO:0031594 |
Ontology | CC |
GO Term | neuromuscular junction |
Definition | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
Gene Symbol | Description | Entrez ID | Uniprot ID | Chromosomal Location |
---|---|---|---|---|
MUSK |
muscle, skeletal, receptor tyrosine kinase |
4593 |
O15146 |
chr9: 110,668,771-110,801,620 |
SYNGR2 |
synaptogyrin 2 |
9144 |
O43760 |
chr17: 78,168,558-78,173,527 |
SYNGR3 |
synaptogyrin 3 |
9143 |
O43761 |
chr16: 1,989,660-1,994,275 |
FCHSD2 |
FCH and double SH3 domains 2 |
9873 |
O94868 |
chr11: 72,836,745-73,142,261 |
APP |
amyloid beta (A4) precursor protein |
351 |
P05067 |
chr21: 25,880,550-26,171,128 |
ITGB1 |
integrin subunit beta 1 |
3688 |
P05556 |
chr10: 32,900,319-33,005,792 |
SERPINE2 |
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 |
5270 |
P07093 |
chr2: 223,975,112-224,039,319 |
PRKAR1A |
protein kinase, cAMP-dependent, regulatory subunit type I alpha |
5573 |
P10644 |
chr17: 68,511,780-68,551,319 |
PRKACA |
protein kinase, cAMP-dependent, alpha catalytic subunit |
5566 |
P17612 |
chr19: 14,091,688-14,118,084 |
DES |
desmin |
1674 |
P17661 |
chr2: 219,418,377-219,426,739 |
F2R |
coagulation factor II (thrombin) receptor |
2149 |
P25116 |
chr5: 76,716,043-76,735,781 |
MYH9 |
myosin, heavy chain 9, non-muscle |
4627 |
P35579 |
chr22: 36,281,281-36,388,018 |
PSEN1 |
presenilin 1 |
5663 |
P49768 |
chr14: 73,136,418-73,223,691 |
EPHA4 |
EPH receptor A4 |
2043 |
P54764 |
chr2: 221,418,027-221,574,202 |
CDH15 |
cadherin 15, type 1, M-cadherin (myotubule) |
1013 |
P55291 |
chr16: 89,171,767-89,195,492 |
HDAC4 |
histone deacetylase 4 |
9759 |
P56524 |
chr2: 239,048,168-239,401,654 |
CDK5 |
cyclin-dependent kinase 5 |
1020 |
Q00535 |
chr7: 151,053,812-151,058,530 |
NRG1 |
neuregulin 1 |
3084 |
Q02297 |
chr8: 31,639,386-32,767,959 |
ANK3 |
ankyrin 3, node of Ranvier (ankyrin G) |
288 |
Q12955 |
chr10: 60,026,298-60,733,490 |
DLG1 |
discs, large homolog 1 (Drosophila) |
1739 |
Q12959 |
chr3: 197,042,560-197,299,300 |
SNTA1 |
syntrophin, alpha 1 |
6640 |
Q13424 |
chr20: 33,407,955-33,443,892 |
CAMK2D |
calcium/calmodulin-dependent protein kinase II delta |
817 |
Q13557 |
chr4: 113,451,032-113,761,927 |
POSTN |
periostin, osteoblast specific factor |
10631 |
Q15063 |
chr13: 37,562,583-37,598,844 |
SV2A |
synaptic vesicle glycoprotein 2A |
9900 |
Q7L0J3 |
chr1: 149,903,318-149,917,882 |
SYNC |
syncoilin, intermediate filament protein |
81493 |
Q9H7C4 |
chr1: 32,680,360-32,703,596 |
PDZRN3 |
PDZ domain containing ring finger 3 |
23024 |
Q9UPQ7 |
chr3: 73,382,433-73,624,940 |
COLQ |
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase |
8292 |
Q9Y215 |
chr3: 15,450,133-15,521,751 |