• Gene id: 57608

Gene Summary

• Gene Symbol: JCAD   Gene   UCSC   Ensembl
• Aliases: KIAA1462
• Gene name: junctional cadherin 5 associated
• Alternate names: junctional protein associated with coronary artery disease,
• Gene location: 10p11.23 (30115493: 30012802)     Exons: 7     NC_000010.11
• Gene summary(Entrez): This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]
• OMIM: 614398

Protein Summary

• Protein general information: Q9P266  
  • Name: Junctional protein associated with coronary artery disease (JCAD)
  • Length: 1359  
  • Mass: 148351
• Sequence:

  MYSVEDLLISHGYKLSRDPPASREDNPKGRQAARTGTRAGQGLQNGHEDGPAALAHRKTSAGKGHVSDSESRRST
  PRGHGEPQSTSASRTSEAGFCNQPPSAWSSHPPTGNDQAYRRRGRQEARSQKPREHENLEARGMAQAHSLPVHVR
  EGPWEVGGRSEHVMKKPVWEEELRMSGPAKWQNVSLESWNQPRKLGRQMSDGDGERLFQDLYPFIQGEHVLNSQN
  KGKSRSLPRVLSPESLSCTEIPIPLNERHSPKMPPYPPTCAPNLDSTRNSEKSGCSAPFPRPKFGRPLKPPSYSS
  HQQSRGGADSSDSQDSQQMDAYVPRHELCLSDPGLEPPVYVPPPSYRSPPQNIPNPYLEDTVPINVCGGHSQQQS
  PTEKAGASGQPPSGPPGTGNEYGVSPRLPQGLPAHPRPVTAYDGFVQYIPFDDPRLRHFKLAQPQGFCEDIKLDD
  KSYNSSPVTAQEPAHGGMQPDGAIWNPQSLIPPSGDERGLVLADSSPRWLWGQPPGDGENSGLPNQRDRCVARGQ
  WPDVRGSQHGHTGRQVSSPYSQGESTCETQTKLKKFQTGTRTKKSSKKKMNETIFCLVSIPVKSESHLPDRDMDN
  NDLKPSADQKNGSDKSPALQEQSLLSMSSTDLELQALTGSMGGRTEFQKQDLGEPEEDRQTNDLSFIHLTKHREL
  KHSGSWPGHRYRDQQTQTSFSEEPQSSQLLPGAKLGGPSRAALSPKCSDPAASEAQTHTAFPTGDHKQRPSARNL
  KGHRSLSPSSNSAFSRTSLSVDQAPTPKAGRSQPCVDVHGLGAHPGPKREVVKGEPTGPCNSKQLFGQFLLKPVS
  RRPWDLISQLESFNKELQEEEESSSSSSSSSSSSEESEAEPQQENRAHCRQEDVGFRGNSPEMRVEPQPRMWVPE
  SPVCRSGRGESKSESWSEELQPGHPRAWPPSPGRFRVEEGGGAPFCSADGSTSAEKRHLEVSNGMDELAGSPFPV
  TRMSSRSSDAKPLPASYPAEPREPQESPKITSAFSSVKPSEAVPRKFDSGGERGAGLPLSLSNKNRGLSAPDLRS
  VGLTPGQEQGASELEGSLGEASTIEIPPGESLQARAARILGIEVAVESLLPGIRRAGQNQPAEPDASACTPESPQ
  EELLSRPAPADVPRVSTDAFYGRRKCGWTKSPLFVGDRDSARRAPQAFEHSDVDGVVTSTDPVPEPEPSPLESKF
  FEQKDVETKPPFRSTLFHFVERTPSVAGSEKRLRSPSKVIESLQEKLASPPRRADPDRLMRMKEVSSVSRMRVLS
  FRNADSQEDAEELKATTRGQAGLPGGLVSPGSGDRAQRLGHSLSVSKDSISREEKEHPAAQKEKSMDQDFWCPDS
  YDPSRVERV

• Structural information:
  • Interpro: IPR028221  
  • STRING: ENSP00000364526
• Other Databases: GeneCards:  JCAD  Malacards:  JCAD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903589	positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IBA	biological process
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005912	adherens junction	IBA	cellular component
GO:0032587	ruffle membrane	IBA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:1903672	positive regulation of sprouting angiogenesis	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IMP	biological process
GO:1900748	positive regulation of vascular endothelial growth factor signaling pathway	IMP	biological process
GO:1903589	positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0005912	adherens junction	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq