Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	285489
Gene name Gene Name - the full gene name approved by the HGNC.	Docking protein 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DOK7
Synonyms (NCBI Gene) Gene synonyms aliases	C4orf25, CMS10, CMS1B, FADS3
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the ace

Show/Hide all(35)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203994	G>A,C	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs118203995	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs139468087	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, synonymous variant
rs141947707	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs142821143	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, 5 prime UTR variant, coding sequence variant
rs201818140	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs201894731	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs370879328	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs375877997	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs376805794	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant
rs544278158	T>C,G	Likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, synonymous variant
rs576215366	A>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs606231128	->TGCC	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231129	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231130	TCCT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs606231131	->CTGG	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231132	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231133	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs756015202	C>T	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs761899995	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs762345055	CTT>-	Likely-pathogenic	Intron variant, 3 prime UTR variant, stop lost, inframe indel, terminator codon variant
rs770163440	AG>-	Likely-pathogenic	Splice acceptor variant
rs775544277	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs778172294	GGACTCAGGCGGCCAG>-,GGACTCAGGCGGCCAGGGACTCAGGCGGCCAG	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs794727884	CCC>-,CC,CCCC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, inframe deletion
rs797045040	->TCCAGTCTGT	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs797045528	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs863223277	G>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1258346283	T>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1349476281	G>T	Pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1553846331	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, intron variant, missense variant
rs1553847993	CCCCACCAAGGGCC>GGACGGTTCTA	Likely-pathogenic	5 prime UTR variant, coding sequence variant, inframe indel
rs1553850100	->GCCACTGGCAGCCACTCCT	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1560200925	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1560224831	->TCTC	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

Show/Hide all(190)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019810	hsa-miR-375	Microarray	20215506
MIRT022616	hsa-miR-124-3p	Microarray	18668037
MIRT943208	hsa-miR-1207-5p	CLIP-seq
MIRT943209	hsa-miR-1224-3p	CLIP-seq
MIRT943210	hsa-miR-1231	CLIP-seq
MIRT943211	hsa-miR-124	CLIP-seq
MIRT943212	hsa-miR-1260	CLIP-seq
MIRT943213	hsa-miR-1260b	CLIP-seq
MIRT943214	hsa-miR-1271	CLIP-seq
MIRT943215	hsa-miR-1280	CLIP-seq
MIRT943216	hsa-miR-129-3p	CLIP-seq
MIRT943217	hsa-miR-130a	CLIP-seq
MIRT943218	hsa-miR-130b	CLIP-seq
MIRT943219	hsa-miR-145	CLIP-seq
MIRT943220	hsa-miR-148a	CLIP-seq
MIRT943221	hsa-miR-148b	CLIP-seq
MIRT943222	hsa-miR-152	CLIP-seq
MIRT943223	hsa-miR-1587	CLIP-seq
MIRT943224	hsa-miR-1825	CLIP-seq
MIRT943225	hsa-miR-19a	CLIP-seq
MIRT943226	hsa-miR-19b	CLIP-seq
MIRT943227	hsa-miR-2276	CLIP-seq
MIRT943228	hsa-miR-27a	CLIP-seq
MIRT943229	hsa-miR-27b	CLIP-seq
MIRT943230	hsa-miR-301a	CLIP-seq
MIRT943231	hsa-miR-301b	CLIP-seq
MIRT943232	hsa-miR-3125	CLIP-seq
MIRT943233	hsa-miR-3127-5p	CLIP-seq
MIRT943234	hsa-miR-3133	CLIP-seq
MIRT943235	hsa-miR-3150a-3p	CLIP-seq
MIRT943236	hsa-miR-3155	CLIP-seq
MIRT943237	hsa-miR-3155b	CLIP-seq
MIRT943238	hsa-miR-3157-5p	CLIP-seq
MIRT943239	hsa-miR-3173-3p	CLIP-seq
MIRT943240	hsa-miR-3175	CLIP-seq
MIRT943241	hsa-miR-3179	CLIP-seq
MIRT943242	hsa-miR-3180-5p	CLIP-seq
MIRT943243	hsa-miR-3622a-5p	CLIP-seq
MIRT943244	hsa-miR-3660	CLIP-seq
MIRT943245	hsa-miR-3666	CLIP-seq
MIRT943246	hsa-miR-378g	CLIP-seq
MIRT943247	hsa-miR-3916	CLIP-seq
MIRT943248	hsa-miR-3918	CLIP-seq
MIRT943249	hsa-miR-3922-5p	CLIP-seq
MIRT943250	hsa-miR-4270	CLIP-seq
MIRT943251	hsa-miR-4295	CLIP-seq
MIRT943252	hsa-miR-4299	CLIP-seq
MIRT943253	hsa-miR-4300	CLIP-seq
MIRT943254	hsa-miR-4436b-3p	CLIP-seq
MIRT943255	hsa-miR-4441	CLIP-seq
MIRT943256	hsa-miR-4456	CLIP-seq
MIRT943257	hsa-miR-4475	CLIP-seq
MIRT943258	hsa-miR-4488	CLIP-seq
MIRT943259	hsa-miR-4492	CLIP-seq
MIRT943260	hsa-miR-4498	CLIP-seq
MIRT943261	hsa-miR-4512	CLIP-seq
MIRT943262	hsa-miR-4526	CLIP-seq
MIRT943263	hsa-miR-4530	CLIP-seq
MIRT943264	hsa-miR-454	CLIP-seq
MIRT943265	hsa-miR-4645-3p	CLIP-seq
MIRT943266	hsa-miR-4645-5p	CLIP-seq
MIRT943267	hsa-miR-4656	CLIP-seq
MIRT943268	hsa-miR-4667-5p	CLIP-seq
MIRT943269	hsa-miR-4673	CLIP-seq
MIRT943270	hsa-miR-4675	CLIP-seq
MIRT943271	hsa-miR-4690-3p	CLIP-seq
MIRT943272	hsa-miR-4695-5p	CLIP-seq
MIRT943273	hsa-miR-4696	CLIP-seq
MIRT943274	hsa-miR-4697-5p	CLIP-seq
MIRT943275	hsa-miR-4700-5p	CLIP-seq
MIRT943276	hsa-miR-4708-3p	CLIP-seq
MIRT943277	hsa-miR-4727-5p	CLIP-seq
MIRT943278	hsa-miR-4731-5p	CLIP-seq
MIRT943279	hsa-miR-4733-3p	CLIP-seq
MIRT943280	hsa-miR-4741	CLIP-seq
MIRT943281	hsa-miR-4753-5p	CLIP-seq
MIRT943282	hsa-miR-4763-3p	CLIP-seq
MIRT943283	hsa-miR-4769-3p	CLIP-seq
MIRT943284	hsa-miR-4772-3p	CLIP-seq
MIRT943285	hsa-miR-484	CLIP-seq
MIRT943286	hsa-miR-485-5p	CLIP-seq
MIRT943287	hsa-miR-506	CLIP-seq
MIRT943288	hsa-miR-513a-5p	CLIP-seq
MIRT943289	hsa-miR-520d-5p	CLIP-seq
MIRT943290	hsa-miR-524-5p	CLIP-seq
MIRT943291	hsa-miR-532-3p	CLIP-seq
MIRT943292	hsa-miR-548q	CLIP-seq
MIRT943293	hsa-miR-558	CLIP-seq
MIRT943294	hsa-miR-566	CLIP-seq
MIRT943295	hsa-miR-583	CLIP-seq
MIRT943296	hsa-miR-589	CLIP-seq
MIRT943297	hsa-miR-622	CLIP-seq
MIRT943298	hsa-miR-629	CLIP-seq
MIRT943299	hsa-miR-637	CLIP-seq
MIRT943300	hsa-miR-671-5p	CLIP-seq
MIRT943301	hsa-miR-760	CLIP-seq
MIRT943302	hsa-miR-762	CLIP-seq
MIRT943303	hsa-miR-766	CLIP-seq
MIRT943304	hsa-miR-920	CLIP-seq
MIRT943305	hsa-miR-922	CLIP-seq
MIRT943306	hsa-miR-939	CLIP-seq
MIRT943307	hsa-miR-96	CLIP-seq
MIRT943252	hsa-miR-4299	CLIP-seq
MIRT943256	hsa-miR-4456	CLIP-seq
MIRT943292	hsa-miR-548q	CLIP-seq
MIRT943301	hsa-miR-760	CLIP-seq
MIRT1979284	hsa-miR-103a	CLIP-seq
MIRT1979285	hsa-miR-107	CLIP-seq
MIRT943211	hsa-miR-124	CLIP-seq
MIRT1979286	hsa-miR-1266	CLIP-seq
MIRT943214	hsa-miR-1271	CLIP-seq
MIRT1979287	hsa-miR-1275	CLIP-seq
MIRT943217	hsa-miR-130a	CLIP-seq
MIRT943218	hsa-miR-130b	CLIP-seq
MIRT943220	hsa-miR-148a	CLIP-seq
MIRT943221	hsa-miR-148b	CLIP-seq
MIRT943222	hsa-miR-152	CLIP-seq
MIRT943223	hsa-miR-1587	CLIP-seq
MIRT943224	hsa-miR-1825	CLIP-seq
MIRT943230	hsa-miR-301a	CLIP-seq
MIRT943231	hsa-miR-301b	CLIP-seq
MIRT943233	hsa-miR-3127-5p	CLIP-seq
MIRT943236	hsa-miR-3155	CLIP-seq
MIRT943237	hsa-miR-3155b	CLIP-seq
MIRT1979288	hsa-miR-3178	CLIP-seq
MIRT1979289	hsa-miR-3622a-3p	CLIP-seq
MIRT943243	hsa-miR-3622a-5p	CLIP-seq
MIRT1979290	hsa-miR-3622b-3p	CLIP-seq
MIRT943245	hsa-miR-3666	CLIP-seq
MIRT943246	hsa-miR-378g	CLIP-seq
MIRT943248	hsa-miR-3918	CLIP-seq
MIRT1979291	hsa-miR-3944-5p	CLIP-seq
MIRT1979292	hsa-miR-4257	CLIP-seq
MIRT1979293	hsa-miR-4261	CLIP-seq
MIRT1979294	hsa-miR-4267	CLIP-seq
MIRT943251	hsa-miR-4295	CLIP-seq
MIRT943254	hsa-miR-4436b-3p	CLIP-seq
MIRT1979295	hsa-miR-4447	CLIP-seq
MIRT1979296	hsa-miR-4462	CLIP-seq
MIRT1979297	hsa-miR-4472	CLIP-seq
MIRT943259	hsa-miR-4492	CLIP-seq
MIRT943260	hsa-miR-4498	CLIP-seq
MIRT1979298	hsa-miR-4518	CLIP-seq
MIRT1979299	hsa-miR-4525	CLIP-seq
MIRT943264	hsa-miR-454	CLIP-seq
MIRT1979300	hsa-miR-4640-5p	CLIP-seq
MIRT1979301	hsa-miR-4649-3p	CLIP-seq
MIRT1979302	hsa-miR-4651	CLIP-seq
MIRT943267	hsa-miR-4656	CLIP-seq
MIRT1979303	hsa-miR-4665-5p	CLIP-seq
MIRT943270	hsa-miR-4675	CLIP-seq
MIRT1979304	hsa-miR-4691-3p	CLIP-seq
MIRT943276	hsa-miR-4708-3p	CLIP-seq
MIRT1979305	hsa-miR-4723-5p	CLIP-seq
MIRT1979306	hsa-miR-4726-5p	CLIP-seq
MIRT943280	hsa-miR-4741	CLIP-seq
MIRT1979307	hsa-miR-4783-5p	CLIP-seq
MIRT943285	hsa-miR-484	CLIP-seq
MIRT943287	hsa-miR-506	CLIP-seq
MIRT943295	hsa-miR-583	CLIP-seq
MIRT1979308	hsa-miR-608	CLIP-seq
MIRT1979309	hsa-miR-625	CLIP-seq
MIRT1979310	hsa-miR-661	CLIP-seq
MIRT943302	hsa-miR-762	CLIP-seq
MIRT943303	hsa-miR-766	CLIP-seq
MIRT1979311	hsa-miR-885-3p	CLIP-seq
MIRT943307	hsa-miR-96	CLIP-seq
MIRT2214492	hsa-miR-1200	CLIP-seq
MIRT2214493	hsa-miR-4324	CLIP-seq
MIRT2214494	hsa-miR-4328	CLIP-seq
MIRT2214495	hsa-miR-544b	CLIP-seq
MIRT943223	hsa-miR-1587	CLIP-seq
MIRT943233	hsa-miR-3127-5p	CLIP-seq
MIRT943246	hsa-miR-378g	CLIP-seq
MIRT943248	hsa-miR-3918	CLIP-seq
MIRT943252	hsa-miR-4299	CLIP-seq
MIRT943256	hsa-miR-4456	CLIP-seq
MIRT943259	hsa-miR-4492	CLIP-seq
MIRT943260	hsa-miR-4498	CLIP-seq
MIRT943267	hsa-miR-4656	CLIP-seq
MIRT943270	hsa-miR-4675	CLIP-seq
MIRT943280	hsa-miR-4741	CLIP-seq
MIRT943292	hsa-miR-548q	CLIP-seq
MIRT943301	hsa-miR-760	CLIP-seq
MIRT943302	hsa-miR-762	CLIP-seq
MIRT2518719	hsa-miR-1197	CLIP-seq
MIRT2518720	hsa-miR-1255a	CLIP-seq
MIRT2518721	hsa-miR-1255b	CLIP-seq
MIRT2518722	hsa-miR-4450	CLIP-seq
MIRT2518719	hsa-miR-1197	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	IEA
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	20603078
GO:0019901	Function	Protein kinase binding	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IEA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IDA	20603078
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA

MIM	HGNC	e!Ensembl
610285	26594	ENSG00000175920

Protein

UniProt ID

Q18PE1

Protein name

Protein Dok-7 (Downstream of tyrosine kinase 7)

Protein function

Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02174	IRS	110 → 204	PTB domain (IRS-1 type)	Domain

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level). {ECO:0000269|PubMed:16794080}.

Sequence

MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLE
DICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAP
GTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAG
VFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPR
PAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSL
DVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSP
PSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKVNPPP

Sequence length

504

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Akinesia	Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 1	rs606231133, rs606231132, rs770987150, rs150376433, rs1349476281, rs768892432, rs606231131, rs761899995, rs778172294, rs794727884, rs769850502, rs1560224831, rs797045528, rs606231129, rs118203995, rs1560200925, rs775583136 View all (2 more)	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome 10, Congenital myasthenic syndrome	rs770987150, rs1553850100, rs606231130, rs1577153029, rs1349476281, rs606231131, rs794727884, rs1577153124, rs761899995, rs778172294, rs606231132, rs606231128, rs768892432, rs797045040, rs762345055 View all (9 more)	N/A
Rett Syndrome	rett syndrome	rs606231129	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Moyamoya Disease	Moyamoya disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	23054610, 30829272
Breast Neoplasms	Inhibit	28393246
Carcinoma Non Small Cell Lung	Associate	34528912
Cerulean cataract	Associate	18626973
Lung Neoplasms	Inhibit	28393246
Motor Neuron Disease	Associate	35468848
Muscle Weakness	Associate	20458068
Muscular Dystrophies Limb Girdle	Associate	23219351, 25849006, 37688281
Muscular Dystrophy Duchenne	Associate	38057384
Myasthenic Syndromes Congenital	Associate	20458068, 20562457, 23219351, 24183479, 25849006, 26501342, 28024842, 36308527, 36579833, 37721175
Neoplasms	Associate	23054610
Pena Shokeir syndrome type 1	Associate	25537362
Urinary Bladder Neoplasms	Associate	36709279

DOK7 (docking protein 7)