• Gene id: 91461

Gene Summary

• Gene Symbol: PKDCC   Gene   UCSC   Ensembl
• Aliases: RLSDF, SGK493, Vlk
• Gene name: protein kinase domain containing, cytoplasmic
• Alternate names: extracellular tyrosine-protein kinase PKDCC, protein kinase domain containing, cytoplasmic homolog, protein kinase domain-containing protein, cytoplasmic, protein kinase-like protein SgK493, sugen kinase 493, vertebrate lonesome kinase,
• Gene location: 2p21 (42048020: 42058516)     Exons: 7     NC_000002.12
• OMIM: 609151

Protein Summary

• Protein general information: Q504Y2  
  • Name: Extracellular tyrosine protein kinase PKDCC (EC 2.7.10.2) (Protein kinase domain containing protein, cytoplasmic) (Protein kinase like protein SgK493) (Sugen kinase 493) (Vertebrate lonesome kinase)
  • Length: 493  
  • Mass: 54132
  • Tissue specificity: Highly expressed in platelets. {ECO
• Sequence:

  MRRRRAAVAAGFCASFLLGSVLNVLFAPGSEPPRPGQSPEPSPAPGPGRRGGRGELARQIRARYEEVQRYSRGGP
  GPGAGRPERRRLMDLAPGGPGLPRPRPPWARPLSDGAPGWPPAPGPGSPGPGPRLGCAALRNVSGAQYMGSGYTK
  AVYRVRLPGGAAVALKAVDFSGHDLGSCVREFGVRRGCYRLAAHKLLKEMVLLERLRHPNVLQLYGYCYQDSEDI
  PDTLTTITELGAPVEMIQLLQTSWEDRFRICLSLGRLLHHLAHSPLGSVTLLDFRPRQFVLVDGELKVTDLDDAR
  VEETPCAGSTDCILEFPARNFTLPCSAQGWCEGMNEKRNLYNAYRFFFTYLLPHSAPPSLRPLLDSIVNATGELA
  WGVDETLAQLEKVLHLYRSGQYLQNSTASSSTEYQCIPDSTIPQEDYRCWPSYHHGSCLLSVFNLAEAVDVCESH
  AQCRAFVVTNQTTWTGRQLVFFKTGWSQVVPDPNKTTYVKASG

• Structural information:
  • Protein Domains: (138..49-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR022049  IPR011009  IPR042983  IPR000719  
  • Prosite: PS50011
  • STRING: ENSP00000294964
• Other Databases: GeneCards:  PKDCC  Malacards:  PKDCC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0042997	negative regulation of Golgi to plasma membrane protein transport	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048566	embryonic digestive tract development	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0032332	positive regulation of chondrocyte differentiation	ISS	biological process
GO:0030501	positive regulation of bone mineralization	ISS	biological process
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0060021	roof of mouth development	ISS	biological process
GO:0048566	embryonic digestive tract development	ISS	biological process
GO:0048286	lung alveolus development	ISS	biological process
GO:0004672	protein kinase activity	ISS	molecular function
GO:0042997	negative regulation of Golgi to plasma membrane protein transport	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 25108383

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
25108383	Hypospadias	rs988958		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS