• Gene id: 285489

Gene Summary

• Gene Symbol: DOK7   Gene   UCSC   Ensembl
• Aliases: C4orf25, CMS10, CMS1B, FADS3
• Gene name: docking protein 7
• Alternate names: protein Dok-7, downstream of tyrosine kinase 7,
• Gene location: 4p16.3 (3463305: 3501481)     Exons: 12     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 613293

Protein Summary

• Protein general information: Q18PE1  
  • Name: Protein Dok 7 (Downstream of tyrosine kinase 7)
  • Length: 504  
  • Mass: 53097
  • 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
• Sequence:

  MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLV
  HTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTG
  QWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPS
  TVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPR
  PAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSL
  PAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTR
  RRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP

• Structural information:
  • Protein Domains: (4..10-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (105..21-)
    (/note="IRS-type-PTB)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00389"-)
  • Interpro: IPR037746  IPR037747  IPR037748  IPR002404  IPR011993   IPR001849  
  • Prosite: PS51064 PS50003
  • CDD: cd14677 cd13165
  • STRING: ENSP00000344432
• Other Databases: GeneCards:  DOK7  Malacards:  DOK7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0061098	positive regulation of protein tyrosine kinase activity	IBA	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IDA	biological process
GO:0019901	protein kinase binding	IDA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Fetal akinesia deformation sequence	KEGG:H00987
Congenital myasthenic syndrome	KEGG:H00770
Fetal akinesia deformation sequence	KEGG:H00987
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray