Gene Ontology Description

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