Homo sapiens (human): 57545
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF5523
CC2D2AN-C2
C2
Motif
Other DBs
NCBI-GeneID:
57545
NCBI-ProteinID:
NP_001073991
OMIM:
612013
HGNC:
29253
Ensembl:
ENSG00000048342
UniProt:
Q9P2K1
LinkDB
All DBs
Position
4:15469865..15601557
Genome browser
AA seq
1620 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
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integrated database retrieval system