Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTFGRGFR)

• DOT Name: Coiled-coil and C2 domain-containing protein 2A (CC2D2A)
• Gene Name: CC2D2A
• Related Disease:
  Ciliopathy
  Joubert syndrome 9
  Achromatopsia
  Gastrointestinal stromal tumour
  Hydrocephalus
  Intellectual disability
  Meckel syndrome, type 1
  Polydactyly
  Retinitis pigmentosa
  Retinitis pigmentosa 93
  Nephronophthisis
  Joubert syndrome with oculorenal defect
  Meckel syndrome
  Obsolete COACH syndrome 1
  Acute myelogenous leukaemia
  COACH syndrome
  Johanson-Blizzard syndrome
  Joubert syndrome
• UniProt ID: C2D2A_HUMAN
• Pfam ID: PF15625 ; PF17661
• Sequence:
  MNPREEKVKIITEEFIENDEDADMGRQNKNSKVRRQPRKKQPPTAVPKEMVSEKSHLGNP
  QEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALL
  QEIPTPRPRRLRSPSKKELETEFGTEPGKEVERTQQEVDSQSYSRVKFHDSARKIKPKPQ
  VPPGFPSAEEAYNFFTFNFDPEPEGSEEKPKARHRAGTNQEEEEGEEEEPPAQGGGKEMD
  EEELLNGDDAEDFLLGLDHVADDFVAVRPADYESIHDRLQMEREMLFIPSRQTVPTYKKL
  PENVQPRFLEDEGLYTGVRPEVARTNQNIMENRLLMQDPERRWFGDDGRILALPNPIKPF
  PSRPPVLTQEQSIKAELETLYKKAVKYVHSSQHVIRSGDPPGNFQLDIDISGLIFTHHPC
  FSREHVLAAKLAQLYDQYLARHQRNKAKFLTDKLQALRNAVQTGLDPEKPHQSLDTIQKT
  INEYKSEIRQTRKFRDAEQEKDRTLLKTIIKVWKEMKSLREFQRFTNTPLKLVLRKEKAD
  QKADEEAYEAEIQAEISELLEEHTEEYAQKMEEYRTSLQQWKAWRKVQRAKKKKRKQAAE
  EHPGDEIAEPYPEEDLVKPSPPEPTDRAVIEQEVRERAAQSRRRPWEPTLVPELSLAGSV
  TPNDQCPRAEVSRREDVKKRSVYLKVLFNNKEVSRTVSRPLGADFRVHFGQIFNLQIVNW
  PESLTLQVYETVGHSSPTLLAEVFLPIPETTVVTGRAPTEEVEFSSNQHVTLDHEGVGSG
  VPFSFEADGSNQLTLMTSGKVSHSVAWAIGENGIPLIPPLSQQNIGFRSALKKADAISSI
  GTSGLTDMKKLAKWAAESKLDPNDPNNAPLMQLISVATSGESYVPDFFRLEQLQQEFNFV
  SDQELNRSKRFRLLHLRSQEVPEFRNYKQVPVYDREIMEKVFQDYEKRLRDRNVIETKEH
  IDTHRAIVAKYLQQVRESVINRFLIAKQYFLLADMIVEEEVPNISILGLSLFKLAEQKRP
  LRPRRKGRKKVTAQNLSDGDIKLLVNIVRAYDIPVRKPAVSKFQQPSRSSRMFSEKHAAS
  PSTYSPTHNADYPLGQVLVRPFVEVSFQRTVCHTTTAEGPNPSWNEELELPFRAPNGDYS
  TASLQSVKDVVFINIFDEVLHDVLEDDRERGSGIHTRIERHWLGCVKMPFSTIYFQARID
  GTFKIDIPPVLLGYSKERNMILERGFDSVRSLSEGSYITLFITIEPQLVPGESIREKFES
  QEDEKLLQATEKFQAECALKFPNRQCLTTVIDISGKTVFITRYLKPLNPPQELLNVYPNN
  LQATAELVARYVSLIPFLPDTVSFGGICDLWSTSDQFLDLLAGDEEEHAVLLCNYFLSLG
  KKAWLLMGNAIPEGPTAYVLTWEQGRYLIWNPCSGHFYGQFDTFCPLKNVGCLIGPDNIW
  FNIQRYESPLRINFDVTRPKLWKSFFSRSLPYPGLSSVQPEELIYQRSDKAAAAELQDRI
  EKILKEKIMDWRPRHLTRWNRYCTSTLRHFLPLLEKSQGEDVEDDHRAELLKQLGDYRFS
  GFPLHMPYSEVKPLIDAVYSTGVHNIDVPNVEFALAVYIHPYPKNVLSVWIYVASLIRNR
• Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.
• Tissue Specificity: Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.
• Reactome Pathway: Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

Molecular Interaction Atlas (MIA) of This DOT

18 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Ciliopathy	DIS10G4I	Definitive	Autosomal recessive	[1]
Joubert syndrome 9	DISUVR4V	Definitive	Autosomal recessive	[2]
Achromatopsia	DISKL51I	Strong	Genetic Variation	[3]
Gastrointestinal stromal tumour	DIS6TJYS	Strong	Biomarker	[4]
Hydrocephalus	DISIZUF7	Strong	Biomarker	[5]
Intellectual disability	DISMBNXP	Strong	Biomarker	[6]
Meckel syndrome, type 1	DIS4YWZU	Strong	Biomarker	[7]
Polydactyly	DIS25BMZ	Strong	Biomarker	[8]
Retinitis pigmentosa	DISCGPY8	Strong	Genetic Variation	[9]
Retinitis pigmentosa 93	DISLYJ3H	Strong	Autosomal recessive	[10]
Nephronophthisis	DISXU4HY	moderate	Altered Expression	[11]
Joubert syndrome with oculorenal defect	DISU0IPO	Supportive	Autosomal recessive	[12]
Meckel syndrome	DISXPHOY	Supportive	Autosomal recessive	[13]
Obsolete COACH syndrome 1	DISM57KK	Supportive	Autosomal recessive	[14]
Acute myelogenous leukaemia	DISCSPTN	Limited	Genetic Variation	[15]
COACH syndrome	DISVDRSD	Limited	Biomarker	[16]
Johanson-Blizzard syndrome	DISYNPE8	Limited	Genetic Variation	[17]
Joubert syndrome	DIS7P5CO	Limited	Genetic Variation	[16]

14 Drug(s) Affected the Gene/Protein Processing of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Valproate	DMCFE9I	Approved	Valproate decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[18]
Tretinoin	DM49DUI	Approved	Tretinoin decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[19]
Temozolomide	DMKECZD	Approved	Temozolomide decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[21]
Vorinostat	DMWMPD4	Approved	Vorinostat decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[22]
Zoledronate	DMIXC7G	Approved	Zoledronate decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[23]
Panobinostat	DM58WKG	Approved	Panobinostat affects the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[24]
Demecolcine	DMCZQGK	Approved	Demecolcine increases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[25]
Melphalan	DMOLNHF	Approved	Melphalan decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[26]
Urethane	DM7NSI0	Phase 4	Urethane decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[27]
(+)-JQ1	DM1CZSJ	Phase 1	(+)-JQ1 decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[29]
PMID28460551-Compound-2	DM4DOUB	Patented	PMID28460551-Compound-2 decreases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[30]
Bisphenol A	DM2ZLD7	Investigative	Bisphenol A increases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[31]
Formaldehyde	DM7Q6M0	Investigative	Formaldehyde increases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[25]
Milchsaure	DM462BT	Investigative	Milchsaure increases the expression of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[32]

2 Drug(s) Affected the Post-Translational Modifications of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Arsenic	DMTL2Y1	Approved	Arsenic affects the methylation of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[20]
Benzo(a)pyrene	DMN7J43	Phase 1	Benzo(a)pyrene increases the methylation of Coiled-coil and C2 domain-containing protein 2A (CC2D2A).	[28]

References

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