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This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] See more...
Aliases for MUSK Gene
Aliases for MUSK Gene
External Ids for MUSK Gene
- HGNC: 7525
- Entrez Gene: 4593
- Ensembl: ENSG00000030304
- OMIM: 601296
- UniProtKB: O15146
Previous GeneCards Identifiers for MUSK Gene
- GC09P104229
- GC09P105163
- GC09P106888
- GC09P108810
- GC09P110510
- GC09P112470
- GC09P113431
- GC09P083032
Summaries for MUSK Gene
-
This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
GeneCards Summary for MUSK Gene
MUSK (Muscle Associated Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with MUSK include Fetal Akinesia Deformation Sequence 1 and Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Degradation of the extracellular matrix and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ROS1.
UniProtKB/Swiss-Prot Summary for MUSK Gene
-
Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).
Additional gene information for MUSK Gene
- HGNC(7525)
- Entrez Gene(4593)
- Ensembl(ENSG00000030304)
- OMIM(601296)
- UniProtKB(O15146)
- Open Targets Platform(ENSG00000030304)
- Monarch Initiative
- Search for MUSK at DataMed
- Search for MUSK at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUSK Gene
Genomics for MUSK Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MUSK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MUSK on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUSK
- Top Transcription factor binding sites by QIAGEN in the MUSK gene promoter:
-
- C/EBPbeta
- Cdc5
- CREB
- deltaCREB
- HNF-3beta
- Ik-2
- LCR-F1
- Nkx2-5
- POU3F2
Genomic Locations for MUSK Gene
Genomic Locations for MUSK Gene
- chr9:110,668,189-110,806,633
- (GRCh38/hg38)
- Size:
- 138,445 bases
- Orientation:
- Plus strand
- chr9:113,431,051-113,563,859
- (GRCh37/hg19)
- Size:
- 132,809 bases
- Orientation:
- Plus strand
Genomic View for MUSK Gene
Genes around MUSK on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q31.3 by HGNC
- 9q31.3 by Entrez Gene
- 9q31.3 by Ensembl
MUSK Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MUSK Gene
Proteins for MUSK Gene
-
Protein details for MUSK Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15146-MUSK_HUMAN
- Recommended name:
- Muscle, skeletal receptor tyrosine-protein kinase
- Protein Accession:
- O15146
- Q32MJ8
- Q32MJ9
- Q5VZW7
- Q5VZW8
Protein attributes for MUSK Gene
- Size:
- 869 amino acids
- Molecular mass:
- 97056 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Monomer (By similarity). Homodimer (Probable). Interacts with LRP4; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts (via cytoplasmic part) with DOK7 (via IRS-type PTB domain); requires MUSK phosphorylation. Interacts with DVL1 (via DEP domain); the interaction is direct and mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Interacts with PDZRN3; this interaction is enhanced by agrin (By similarity). Interacts with FNTA; the interaction is direct and mediates AGRIN-induced phosphorylation and activation of FNTA (By similarity). Interacts with CSNK2B; mediates regulation by CK2 (By similarity). Interacts (via the cytoplasmic domain) with DNAJA3 (By similarity). Interacts with NSF; may regulate MUSK endocytosis and activity (By similarity). Interacts with CAV3; may regulate MUSK signaling (By similarity). Interacts with RNF31 (By similarity).
Protein Expression for MUSK Gene
Selected DME Specific Peptides for MUSK Gene
- O15146:
-
- RWMPPESI
- TLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNN
- FSYGLQPY
- LFDTRYSI
- TPLETVDALVE
- GAFGRVFQARAPGL
- HRDLATRN
- VAVKMLK
- PKITRPP
- EDAGQYRCVAKNSLG
- PADRPSF
- FVHRDLATRNC
- VEVFARIL
- NGQLLTILSVEDSDDG
- GVVLWEI
- IIEGLKAVLPCTTMGNPKPSVSWIKG
- ELYNLMRLCWSKLPADRPSF
- FVHRDLA
- QVAAGMAY
- LRIHNVQ
- GLQPYYG
Post-translational modifications for MUSK Gene
- Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity).
- Phosphorylated (By similarity). Phosphorylation is induced by AGRIN in a LRP4-dependent manner (By similarity). Autophosphorylated (PubMed:25029443). Autophosphorylation at Tyr-554 is required for interaction with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK (By similarity).
- Neddylated.
-
Glycosylation at Asn222 and Asn338
- NX_O15146 (NX_O15146-1)
- Modification sites at PhosphoSitePlus
Other Protein References for MUSK Gene
Antibody Products
- G Biosciences Immunotag™ MUSK Antibody
- NSJ Bioreagents MUSK Antibody
-
Custom Antibody ServicesOriGene Antibodies for MUSK
- Novus Biologicals Antibodies for MUSK
-
Abcam antibodies for MUSK
- Invitrogen Antibodies for MUSK (AFLGC-MUSK)
- antibodies-online: Show 44 available MUSK Antibodies ranked by validation data
- Compare Top MUSK Antibodies
-
Recommended
- 42 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 5 IHC Antibodies (anti-mouse)
- 30 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 5 IHC Antibodies (anti-rat)
- 100 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IP Antibody (anti-human)
-
Boster Bio Antibodies for MUSK
-
Santa Cruz Biotechnology (SCBT) Antibodies for MUSK
- Sino Biological Antibodies for MUSK
Protein Products
-
OriGene Purified Proteins for MUSK
- Search Origene for MassSpec and Protein Over-expression Lysates for MUSK
- Origene Custom Protein Services for MUSK
- Novus Biologicals lysates for MUSK
- Sino Biological Recombinant Proteins for MUSK
- Sino Biological Cell Lysates for MUSK
-
Abcam proteins for MUSK
Domains & Families for MUSK Gene
Gene Families for MUSK Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for MUSK Gene
- InterPro:
- Blocks:
-
- Tyrosine protein kinase, active site
- ProtoNet:
Suggested Antigen Peptide Sequences for MUSK Gene
- GenScript: Design optimal peptide antigens:
-
- Muscle-specific tyrosine-protein kinase receptor (MUSK_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15146UniProtKB/Swiss-Prot:
MUSK_HUMAN :- Belongs to the protein kinase superfamily. Tyr protein kinase family.
- Family:
-
- Belongs to the protein kinase superfamily. Tyr protein kinase family.
Function for MUSK Gene
Molecular function for MUSK Gene
- UniProtKB/Swiss-Prot Function:
- Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028, ECO:0000269|PubMed:25029443};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Positively regulated by CK2.
- GENATLAS Biochemistry:
- skeletal muscle specific receptor tyrosine kinase,expressed in early myotomes and developing muscle and at the neuromuscular junction in mature muscle
Enzyme Numbers (IUBMB) for MUSK Gene
Phenotypes From GWAS Catalog for MUSK Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0004713 | protein tyrosine kinase activity | IEA,ISS | -- |
| GO:0004714 | transmembrane receptor protein tyrosine kinase activity | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IEA,IPI | 22939624 |
Phenotypes for MUSK Gene
- MGI mutant phenotypes for MUSK:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for MUSK:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased cell migration
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability
- Decreased viability in pancreas lineage
- Increased hepcidin::fluc mRNA expression
- Decreased shRNA abundance (Z-score < -2)
- Increased viability after TNF/CHX stimulation
- Increased simian virus 40 (SV40) infection
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased viability with TRAIL
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MUSK - Select products 50% OFF >
- * MUSK CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MUSK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MUSK
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUSK
miRNA for MUSK Gene
- miRTarBase miRNAs that target MUSK
-
- hsa-miR-155-5p (MIRT001549)
- mmu-miR-7b-5p (MIRT009453)
- mmu-miR-181a-5p (MIRT014379)
- hsa-miR-335-5p (MIRT018342)
- hsa-miR-1-3p (MIRT023902)
- hsa-miR-215-5p (MIRT024788)
- hsa-miR-192-5p (MIRT026611)
- hsa-miR-544a (MIRT440696)
- hsa-miR-218-5p (MIRT440698)
- hsa-miR-4535 (MIRT477146)
- hsa-miR-4776-5p (MIRT477147)
- hsa-miR-1273e (MIRT477148)
- hsa-miR-25-5p (MIRT477149)
- hsa-miR-711 (MIRT477150)
- hsa-miR-658 (MIRT477151)
- hsa-miR-4722-5p (MIRT477152)
- hsa-miR-6087 (MIRT477153)
- hsa-miR-6840-3p (MIRT477154)
- hsa-miR-219b-3p (MIRT477155)
- hsa-miR-665 (MIRT477156)
- hsa-miR-4459 (MIRT477157)
- hsa-miR-4768-3p (MIRT477158)
- hsa-miR-4695-5p (MIRT477159)
- hsa-miR-6165 (MIRT477160)
- hsa-miR-302f (MIRT477161)
- hsa-miR-6763-3p (MIRT628236)
- hsa-miR-4772-3p (MIRT628237)
- hsa-miR-671-3p (MIRT628238)
- hsa-miR-5587-3p (MIRT628239)
- hsa-miR-4707-5p (MIRT628240)
- hsa-miR-1306-5p (MIRT628241)
- hsa-miR-6875-3p (MIRT646729)
- hsa-miR-3180-5p (MIRT646730)
- hsa-miR-8057 (MIRT646731)
- hsa-miR-4691-5p (MIRT646732)
- hsa-miR-6792-3p (MIRT646733)
- hsa-miR-525-5p (MIRT646734)
- hsa-miR-520a-5p (MIRT646735)
- hsa-miR-924 (MIRT646736)
- hsa-miR-4778-3p (MIRT646737)
- hsa-miR-212-5p (MIRT646738)
- hsa-miR-660-3p (MIRT646739)
- hsa-miR-4695-3p (MIRT663459)
- hsa-miR-6787-3p (MIRT663460)
- hsa-miR-6736-3p (MIRT663461)
- hsa-miR-6890-3p (MIRT663462)
- hsa-miR-642a-5p (MIRT723000)
- hsa-miR-4448 (MIRT723001)
- hsa-miR-3189-5p (MIRT723002)
- hsa-miR-4758-3p (MIRT723003)
- hsa-miR-5699-5p (MIRT723004)
- hsa-miR-324-3p (MIRT723005)
- hsa-miR-1913 (MIRT723006)
- hsa-miR-3667-3p (MIRT723007)
- hsa-miR-6734-3p (MIRT723008)
- hsa-miR-6752-3p (MIRT723009)
- hsa-miR-4667-3p (MIRT723010)
- hsa-miR-1470 (MIRT723011)
- hsa-miR-6810-3p (MIRT723012)
- hsa-miR-6801-3p (MIRT723013)
- hsa-miR-6793-3p (MIRT723014)
- hsa-miR-129-5p (MIRT783486)
- hsa-miR-3672 (MIRT785128)
- hsa-miR-4524a-3p (MIRT786106)
- hsa-miR-4797-5p (MIRT786827)
- hsa-miR-5007-5p (MIRT786947)
- hsa-miR-5691 (MIRT787756)
- hsa-miR-6805-3p (MIRT788835)
- hsa-miR-6864-3p (MIRT789133)
- hsa-miR-8055 (MIRT789672)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MUSK
- Browse OriGene Inhibitory RNA Products For MUSK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUSK
Clone Products
- Applied Biological Materials (abm): Clones for MUSK - Select products 50% OFF >
- * MUSK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226026
- MG226028
- MG226297
- MG226298
- MG226300
- MG226302
- MR226026
- MR226026L3
- MR226026L4
- MR226028
- MR226028L3
- MR226028L4
- MR226297
- MR226297L3
- MR226297L4
- MR226298
- MR226298L3
- MR226298L4
- MR226300
- MR226300L3
- MR226300L4
- MR226302
- MR226302L3
- MR226302L4
- RC212253
- RC212253L1
- RC212253L2
- RC212253L3
- RC212253L4
- RC230488
- RC230488L3
- RC230488L4
- RC230497
- RC230497L3
- RC230497L4
- RC600068
- RC600069
- RC600070
- RG212253
- RG230488
- RG230497
- RR210003
- RR210003L3
- RR210003L4
- MR226026L3V
- MR226026L4V
- MR226028L3V
- MR226028L4V
- MR226297L3V
- MR226297L4V
- MR226298L3V
- MR226298L4V
- MR226300L3V
- MR226300L4V
- MR226302L3V
- MR226302L4V
- RC212253L1V
- RC212253L2V
- RC212253L3V
- RC212253L4V
- RC230488L3V
- RC230488L4V
- RC230497L3V
- RC230497L4V
- RR210003L3V
- RR210003L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MUSK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MUSK
Cell Line Products
-
Horizon Cell Lines for MUSK
No data available for Transcription Factor Targets and HOMER Transcription for MUSK Gene
Localization for MUSK Gene
Subcellular locations from UniProtKB/Swiss-Prot for MUSK Gene
- Cell junction, synapse, postsynaptic cell membrane. Single-pass type I membrane protein. Note=Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction. {ECO:0000269 PubMed:23326516}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005887 | integral component of plasma membrane | IBA,ISS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUSK Gene
Pathways & Interactions for MUSK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
| 2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 3 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
| 4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
|
| 5 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
|
Activation of PKA through GPCR
.71
|
Pathways by source for MUSK Gene
2 Reactome pathways for MUSK Gene
29 Qiagen pathways for MUSK Gene
- 14-3-3 Induced Intracellular Signaling
- Actin Nucleation and Branching
- Actin Nucleation by ARP-WASP Complex
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
Interacting Proteins for MUSK Gene
Selected Interacting proteins:
O15146-MUSK_HUMAN
ENSP00000363571
for MUSK Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MUSK
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001934 | positive regulation of protein phosphorylation | ISS | -- |
| GO:0006468 | protein phosphorylation | IEA | -- |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | TAS,IBA | 21873635 |
| GO:0007275 | multicellular organism development | IBA | 21873635 |
| GO:0007399 | nervous system development | IBA | -- |
Drugs & Compounds for MUSK Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Transcripts for MUSK Gene
mRNA/cDNA for MUSK Gene
- 4 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000189978 2408 nts (view in UCSC)
- ENST00000374438 1221 nts (view in UCSC)
- ENST00000374439 435 nts (view in UCSC)
- ENST00000374440 2408 nts (view in UCSC)
- ENST00000374448 8294 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MUSK - Select products 50% OFF >
- * MUSK CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MUSK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MUSK
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUSK
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MUSK
- Browse OriGene Inhibitory RNA Products For MUSK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUSK
Clone Products
- Applied Biological Materials (abm): Clones for MUSK - Select products 50% OFF >
- * MUSK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226026
- MG226028
- MG226297
- MG226298
- MG226300
- MG226302
- MR226026
- MR226026L3
- MR226026L4
- MR226028
- MR226028L3
- MR226028L4
- MR226297
- MR226297L3
- MR226297L4
- MR226298
- MR226298L3
- MR226298L4
- MR226300
- MR226300L3
- MR226300L4
- MR226302
- MR226302L3
- MR226302L4
- RC212253
- RC212253L1
- RC212253L2
- RC212253L3
- RC212253L4
- RC230488
- RC230488L3
- RC230488L4
- RC230497
- RC230497L3
- RC230497L4
- RC600068
- RC600069
- RC600070
- RG212253
- RG230488
- RG230497
- RR210003
- RR210003L3
- RR210003L4
- MR226026L3V
- MR226026L4V
- MR226028L3V
- MR226028L4V
- MR226297L3V
- MR226297L4V
- MR226298L3V
- MR226298L4V
- MR226300L3V
- MR226300L4V
- MR226302L3V
- MR226302L4V
- RC212253L1V
- RC212253L2V
- RC212253L3V
- RC212253L4V
- RC230488L3V
- RC230488L4V
- RC230497L3V
- RC230497L4V
- RR210003L3V
- RR210003L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MUSK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MUSK
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||
| SP4: | - | - |
Relevant External Links for MUSK Gene
- GeneLoc Exon Structure for
- MUSK
Expression for MUSK Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Autopod
- Zeugopod
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Bone (Muscoskeletal System)
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Gut Tube (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for MUSK Gene
This gene is overexpressed in Muscle - Skeletal (x12.0) and Small Intestine - Terminal Ileum (x4.5).
This gene is overexpressed in Testis (35.0) and Pancreatic juice (28.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUSK Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUSK
SOURCE GeneReport for Unigene cluster for MUSK Gene:
Hs.521653Evidence on tissue expression from TISSUES for MUSK Gene
- Muscle(3.5)
- Nervous system(2.9)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MUSK Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pharynx
- skull
- tongue
- tooth
- vocal cord
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- lung
- rib
- rib cage
- sternum
Abdomen:
- kidney
- stomach
Pelvis:
- pelvis
- placenta
- testicle
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- hair
- lymph vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for MUSK
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for MUSK Gene
Orthologs for MUSK Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MUSK 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MUSK 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Musk 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Musk 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MUSK 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MUSK 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MUSK 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MUSK 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MUSK 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | musk 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | musk-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | musk 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nrk 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006988 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | kin-23 32 |
|
|
- Species where no ortholog for MUSK was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for MUSK Gene
- ENSEMBL:
- Gene Tree for MUSK (if available)
- TreeFam:
- Gene Tree for MUSK (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MUSK: view image
Paralogs for MUSK Gene
Paralogs for MUSK Gene
- ROS1 5
- NTRK2 5
- INSR 5
- IGF1R 5
- ROR1 5
- INSRR 5
- NTRK1 5
- DDR2 5
- DDR1 5
- NTRK3 5
- MST1R 5
- ALK 5
- ROR2 5
- FLT4 5
- MET 5
- TYRO3 5
- FGFR3 5
- PDGFRA 5
- KIT 5
- KDR 5
- CSF1R 5
- PDGFRB 5
- FLT3 5
- FLT1 5
- FGFR4 5
- RET 5
- TEK 5
- FGFR2 5
- EPHA3 5
- FGFR1 5
- ENSG00000282278 5
- EPHA2 5
- EPHA5 5
- EPHA6 5
- TIE1 5
- EPHA8 5
- EGFR 5
- EPHA7 5
- EPHA4 5
- EPHB3 5
- AXL 5
- EPHB1 5
- LTK 5
- ERBB4 5
- MERTK 5
- ERBB3 5
- EPHB2 5
- EPHB4 5
- RYK 5
- EPHA1 5
- ERBB2 5
- EPHB6 5
- EPHA10 5
- LMTK2 5
(57) SIMAP similar genes for MUSK Gene using alignment to 3 proteins:
- MUSK_HUMAN
- Q5T0B5_HUMAN
- Q5VZW9_HUMAN
- CNTN2
- CNTN5
- EPHA2
- PTK7
- HMCN1
- CDON
- ROR2
- PXDNL
- NGL1
- CNTN6
- MDGA2
- CNTN4
- SDK2
- PTPRF
- NEO1
- PXDN
- MYBPC3
- MYBPC1
- LRFN5
- LAR
- IGFN1
- NRCAM
- DCC
- LINGO2
- NFASC
- TTN
- SDK1
- ROBO3
- ROBO1
- IGSF22
- HMCN2
- PTPRD
- MDGA1
- LRIG3(NM_153377)-ROS1
- LRIG3(NM_001136051)-ROS1
- L1CAM
- PTPRS
- ROR1
- IGSF9B
- IGDCC3
- HSPG2
- ADAMTSL1
- MYLK
- PRTG
- MYPN
- MYBPC2
- LRFN4
- LOC392395
- CHL1
- CCDC141
- NEGR1
- MYOM3
- DSCAML1
- OBSCN
- ROBO4
- PALLD
- LRIT2
Variants for MUSK Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUSK Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639738 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,747,635(+) | T/A | INTRON_VARIANT | |
| 640198 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,800,895(+) | G/C | MISSENSE_VARIANT | |
| 641151 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,775,827(+) | A/G | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 641945 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,682,805(+) | G/A | INTRON_VARIANT | |
| 642369 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,800,586(+) | C/G | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.77;
78.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MUSK Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUSK Gene
Disorders for MUSK Gene
(31) MalaCards diseases for MUSK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fetal akinesia deformation sequence 1 |
|
|
| myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
|
|
| myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
|
|
| postsynaptic congenital myasthenic syndromes |
|
|
| congenital myasthenic syndrome |
|
Search MUSK in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MUSK_HUMAN- Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269 PubMed:15496425, ECO:0000269 PubMed:19949040, ECO:0000269 PubMed:20371544, ECO:0000269 PubMed:23326516, ECO:0000269 PubMed:24183479}. Note=The disease is caused by mutations affecting the gene represented in this entry. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
- Fetal akinesia deformation sequence 1 (FADS1) [MIM:208150]: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive. {ECO:0000269 PubMed:25537362, ECO:0000269 PubMed:25612909}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MUSK
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MUSK Gene
Publications for MUSK Gene
- Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. (PMID: 7546737) Valenzuela DM … Gies DR (Neuron 1995) 2 3 4 23
- Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. (PMID: 20371544) Maselli RA … Wollmann RL (Human molecular genetics 2010) 3 4 23
- MUSK, a new target for mutations causing congenital myasthenic syndrome. (PMID: 15496425) Chevessier F … Hantaï D (Human molecular genetics 2004) 3 4 23
- Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. (PMID: 25537362) Tan-Sindhunata MB … Groffen AJ (European journal of human genetics : EJHG 2015) 3 4
- MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (PMID: 25612909) Wilbe M … Bondeson ML (Journal of medical genetics 2015) 3 4
ExternalLinks
Products for MUSK Gene
- View all 7 R&D Systems MUSK (MuSK) Products
- View all R&D Systems MUSK (MuSK) Proteins and Enzymes
- View all 4 R&D Systems MUSK (MuSK) Primary Antibodies
- View all R&D Systems MUSK (MuSK) Proteome Profiler Antibody Arrays
- View all R&D Systems MUSK (MuSK) cDNA Clones
- Learn more about R&D Systems custom MUSK antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for MUSK
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MUSK
- Search Origene for MassSpec and Protein Over-expression Lysates for MUSK
- Origene Custom Protein Services for MUSK
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MUSK
- Browse OriGene Inhibitory RNA Products For MUSK
- OriGene qPCR primer pairs for MUSK
- OriGene CRISPR knockouts for MUSK
- MG226026
- MG226028
- MG226297
- MG226298
- MG226300
- MG226302
- MR226026
- MR226026L3
- MR226026L4
- MR226028
- MR226028L3
- MR226028L4
- MR226297
- MR226297L3
- MR226297L4
- MR226298
- MR226298L3
- MR226298L4
- MR226300
- MR226300L3
- MR226300L4
- MR226302
- MR226302L3
- MR226302L4
- RC212253
- RC212253L1
- RC212253L2
- RC212253L3
- RC212253L4
- RC230488
- RC230488L3
- RC230488L4
- RC230497
- RC230497L3
- RC230497L4
- RC600068
- RC600069
- RC600070
- RG212253
- RG230488
- RG230497
- RR210003
- RR210003L3
- RR210003L4
- MR226026L3V
- MR226026L4V
- MR226028L3V
- MR226028L4V
- MR226297L3V
- MR226297L4V
- MR226298L3V
- MR226298L4V
- MR226300L3V
- MR226300L4V
- MR226302L3V
- MR226302L4V
- RC212253L1V
- RC212253L2V
- RC212253L3V
- RC212253L4V
- RC230488L3V
- RC230488L4V
- RC230497L3V
- RC230497L4V
- RR210003L3V
- RR210003L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MUSK
- Sino Biological Human cDNA Clone for MUSK
- Sino Biological Recombinant Proteins for MUSK
- Sino Biological Cell Lysates for MUSK
- Sino Biological Antibodies for MUSK
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MUSK
- Novus Biologicals lysates for MUSK
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MUSK
- Abcam proteins for MUSK
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for MUSK (AFLGC-MUSK)
- VectorBuilder Custom and pre-made DNA vectors for MUSK (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MUSK (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MUSK (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MUSK CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MUSK
- antibodies-online: Show 44 available MUSK Antibodies ranked by validation data
- Compare Top MUSK Antibodies
- Recommended
- 42 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 5 IHC Antibodies (anti-mouse)
- 30 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 5 IHC Antibodies (anti-rat)
- 100 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- antibodies-online: Show 45 available MUSK Elisa Kits ranked by validation data
- Compare Top MUSK Elisa Kits
- antibodies-online: Show 19 available MUSK Proteins ranked by validation data
- Compare Top MUSK Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for MUSK
- Search Santa Cruz Biotechnology (SCBT) for MUSK siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MUSK
- Horizon Cell Lines for MUSK
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MUSK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MUSK
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MUSK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUSK
- Boster Bio Antibodies for MUSK
- Browse Boster Bio ELISA Kits
Sources for MUSK Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB