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