KEGG   Homo sapiens (human): 57545
Entry
57545             CDS       T01001                                 
Symbol
CC2D2A, COACH2, JBTS9, MKS6, RP93
Name
(RefSeq) coiled-coil and C2 domain containing 2A
  KO
K19352  coiled-coil and C2 domain-containing protein 2A
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome
H00527  Retinitis pigmentosa
H00530  Joubert syndrome and related disorders
H01001  COACH syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    57545 (CC2D2A)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   57545 (CC2D2A)
SSDB
Motif
Pfam: DUF5523 CC2D2AN-C2 C2
Other DBs
NCBI-GeneID: 57545
NCBI-ProteinID: NP_001073991
OMIM: 612013
HGNC: 29253
Ensembl: ENSG00000048342
UniProt: Q9P2K1
Position
4:15469865..15601557
AA seq 1620 aa
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
NT seq 4863 nt   +upstreamnt  +downstreamnt
atgaatcccagggaagaaaaagtaaaaataattacagaggagttcattgaaaatgatgag
gatgcagacatgggaagacagaataagaactcaaaggttcgaagacagccaagaaagaaa
cagccaccaactgctgtccccaaggaaatggtgtccgaaaaatcccaccttggcaacccc
caggagcctgtgcaggaggagcccaagacccgcctcctgagtatgacagtccggagaggc
ccacggagcttacctccaattccttcaacttccagaacaggctttgcagaattttccatg
aggggacgcatgagggagaaattgcaagcagcgaggtccaaagcagaaagtgcattgctg
caggaaatccccactcctcggcccagacgcttacgaagtcccagtaagaaagaattggag
actgaatttggcacagagccagggaaagaggtagaaaggactcaacaagaagttgactcc
caaagttactcaagagtcaagttccatgattctgcacgaaaaatcaagcctaaaccccag
gttccacctggcttcccttctgcagaagaggcctataacttctttactttcaactttgat
cccgaaccagaaggatcagaggaaaaaccaaaagcaagacatagagcgggaactaatcaa
gaggaggaggaaggggaagaagaagaaccacctgcacaaggaggaggaaaggaaatggat
gaggaagaactgcttaatggtgatgatgccgaggacttcctattgggcttagatcacgtg
gctgacgattttgtagcagtcagacctgcagattatgaaagcatccatgatcggctgcag
atggaaagagaaatgctcttcatacccagtaggcagacagtccctacatataaaaagctt
cctgagaatgtacagcccaggttcctggaagatgaaggcctttacaccggggtaagacca
gaggtggcacgcaccaatcagaacatcatggagaacagattgctgatgcaggaccccgaa
agaagatggtttggagatgacggcaggatcctagctctgccaaaccccatcaagccattt
ccttcaaggccgccagtactaacacaggagcagagcattaaggcagagcttgaaacactg
tataaaaaggctgtaaaatacgttcacagtagtcagcatgtgatcagatctggagaccct
cctggaaatttccaactggacattgatatttcagggttaatcttcactcatcatccctgt
tttagccgagagcatgttttggcagccaagctggcccagttatatgaccagtaccttgca
agacaccagagaaacaaggcgaaatttcttactgataagctccaagctttaagaaatgct
gttcagactggccttgatccagaaaaacctcatcagtctctcgataccatccaaaaaacc
atcaatgagtataaatctgaaattcgacaaacaagaaaattccgtgatgctgaacaagaa
aaagatagaacattgcttaagactatcataaaagtttggaaagagatgaaatcccttcga
gagttccagagatttacaaatactcccttgaaacttgttttgagaaaggaaaaagctgac
cagaaagcagatgaagaagcatatgaagcagaaattcaagctgaaataagtgaactgtta
gaagagcacacggaggagtacgcacagaagatggaagaatacagaacgtcgttacaacag
tggaaggcctggaggaaagtgcaaagggccaagaagaagaaaaggaaacaagcagcagaa
gaacatcccggtgatgagattgcagagccgtatcccgaggaggaccttgtgaagcccagc
cctccagagcccactgatcgggcagtgatagagcaggaggtgagggagagagcagcccag
agcaggaggaggccttgggagcccacgctggtcccggagctaagcctggcaggaagcgta
acacccaatgaccagtgccccagagcggaggtctcgagaagggaggatgtaaagaagcgc
tcagtgtacttaaaagtgctgttcaacaacaaggaggtgtccaggacagtcagtcggcca
ctaggagcagacttccgagttcactttgggcagattttcaatttgcaaatagtcaactgg
ccggagagtttaacacttcaggtctatgaaactgtcggacacagtagtcccaccttgcta
gcagaagtgtttctgcctattcctgagactactgttgtcactggaagggctcctactgaa
gaagtggagtttagcagtaatcagcatgtgacactggaccacgagggagttggaagtgga
gtgcccttctcatttgaagctgatggcagtaaccagctgactctgatgacctcagggaaa
gtgtctcatagtgtggcatgggccattggagaaaacgggatacctttaattcctccattg
tcacagcagaacatcggatttcggagtgctttgaagaaagcagatgccatctcatctatt
ggcacatcaggactgacagacatgaaaaaattggccaagtgggcagcagagtccaagctc
gacccaaatgaccccaacaatgcccctttgatgcagcttatctcggttgctaccagtggt
gaatcctatgtccctgatttctttagactggagcagctgcaacaggagtttaactttgtt
tcagatcaagaattaaatagatccaaacgatttaggcttcttcatcttagaagccaagag
gtgccagaattccgaaattataagcaagttccagtctatgaccgagaaattatggaaaag
gtattccaggactatgagaaacggttacgagacagaaatgtaatagaaaccaaggaacac
atagacacccatagggccatagtagccaagtacctccagcaggttagagaatcagtgata
aatcgtttcttaattgcaaaacaatattttcttcttgctgatatgatagtagaagaagaa
gttcccaatatcagcattttgggcctaagccttttcaagctggcagaacaaaagcgacca
ctgcggccaaggagaaaaggtcggaagaaggtgacagcccaaaacctgtctgatggagac
ataaagctgctggtgaacattgtgcgagcttacgacattccagtgaggaagccggcagtg
agcaaattccagcagccgtcgaggtcttcaaggatgttcagtgaaaagcatgctgcttcc
ccaagcacgtacagcccaacccacaatgctgactaccccctcggccaggttttagtacgt
ccctttgtagaagtctcttttcaacgaacagtttgccatacgactacggctgaaggacca
aaccctagctggaatgaagaactagaacttccatttagggctcctaatggagattatagc
acagccagtctgcagtcagtgaaagatgttgtgttcattaacatttttgatgaagtactg
catgatgtcttagaggatgaccgtgaaagaggaagtggaatccatactcgtattgagaga
cactggctgggatgtgtgaaaatgccatttagcacaatatatttccaagcaaggattgat
ggaacatttaaaatagatattcccccagttcttctgggctacagtaaggagcgaaatatg
attcttgagcggggttttgattctgtccgaagcttaagtgaaggctcctacattaccctc
tttattaccattgagccccagctggttcctggagagtccattcgagaaaagtttgagtct
caggaagatgagaaattacttcaagcaactgagaagtttcaagctgaatgtgccttaaag
tttccaaatcgtcagtgccttacaacagtaattgatataagcggaaaaactgtttttatc
acacgttatctcaaacctttaaaccctcctcaggagctccttaatgtctaccccaataat
ctacaggcaactgcagaactggtggctcgatatgtgtccttgattcccttcttgcctgac
actgtctcatttggtggtatctgtgacctctggagcacatctgatcaatttcttgatctc
ctggcaggggatgaagaagaacatgcagtactattgtgtaattactttctgtctctgggt
aagaaggcctggctgttgatgggcaatgctattcctgagggtccaactgcctatgtgcta
acttgggagcaaggtcgttatttaatatggaatccctgcagtggacatttttatggacaa
tttgatacattctgtcccttgaaaaatgtgggctgtttaataggtcctgacaatatttgg
tttaatattcaacgatatgaatctccactaaggataaattttgatgtcaccaggcccaag
ctatggaaatctttcttttcaagaagccttccatatcctggcctttccagtgttcagcct
gaagagctaatttaccagcgctcagacaaagcagctgcagctgagctacaagacaggatt
gaaaaaatactaaaagaaaaaatcatggactggaggccacgccatctgactcggtggaat
aggtattgtacctctactctgcgtcacttcttgcctctgttagaaaaaagtcaaggagaa
gatgtagaagatgaccacagagcagaactgctaaaacagctgggagactacaggttctct
ggatttcctcttcacatgccttattctgaagtgaagcctttaattgacgctgtgtatagt
actggagtacataatattgatgttcctaatgttgaatttgctttagctgtatacatacac
ccataccccaaaaatgttttgtctgtttggatctatgttgcctctcttatacgcaacagg
taa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (45)   
   RefSeq(nuc) (11)   
   GenBank (17)   
   EMBL (17)   
Protein domain (3)   
   Pfam (3)   
All databases (93)   

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