KEGG   Homo sapiens (human): 26005
Entry
26005             CDS       T01001                                 
Symbol
C2CD3, OFD14
Name
(RefSeq) C2 domain containing 3 centriole elongation regulator
  KO
K16751  C2 domain-containing protein 3
Organism
hsa  Homo sapiens (human)
Disease
H00454  Oral-facial-digital syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    26005 (C2CD3)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    26005 (C2CD3)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Other centriole associated proteins
    26005 (C2CD3)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   26005 (C2CD3)
SSDB
Motif
Pfam: C2 NT-C2
Other DBs
NCBI-GeneID: 26005
NCBI-ProteinID: NP_001273506
OMIM: 615944
HGNC: 24564
Ensembl: ENSG00000168014
Pharos: Q4AC94(Tbio)
UniProt: Q4AC94
Position
11:complement(74012718..74171002)
AA seq 2353 aa
MKQRKGQGSGGSRGRKKRGLSDISPSTSLPPLVEGQLRCFLKLTVNRVIWKIAKPPTCVL
VRVRWWGETSDGTLFCPRDALQTEPKAVRTTTRYAIRCGPKQFTSYLTDMAVLVLEVITK
LDGLPIGRVQINGLAQLSPTHQINGFFTIVSSTSKKLGELQVSLALEPLSETYDSYHPLP
TTDMTENVLLSKQGFRENTEPSSTQFQVPSRPRDIHTIKIDGKELAANSSRSTTPRGKDH
VCFAENPDTIKDSSFGLQHSLNSGQSLESVTLKGRAPRKQMSLLNSSEFQPQIRTVAKSH
SDSCILSSNNLPTKDLLSALLEQGNKLRNAMVISAMKSSPETSMLLDQVHPPINEDSLRA
STQIRAFSRNRFKDHIEDHLLPSTENTFWRHDTKADTRAIQLLLGSAELSQGNFWDGLGS
PPDSPSPGSDVYCISELNDPQYDQSLLENLFYTAPKSDTSISDFLSEEDDIVPSKKISQS
TALARSSKVLESSDHKLKKRSAGKRNRNLVEQQMLSETPEDAQTMTLSVDRLALLGRTHS
VRIIIETMGVPPDSPQMTPGKKSYAGPPPKVTTAKKRTFFVEYHFPVGFSESGLGKTALI
TEVVRLASSKITDGKVKFQQRFVFPVQFGGPMIEHWWNSNLTFQIYVKKTPQKKPEVIGS
VSLSLRAVIQSELLSFSDQLPVQQENGQSPFGPLKVTMELITDNKDFTGINTKLSGNTHY
TPLCAPTSPNKALPELNQDMTCTKNPQNLNQIHEETAKKAQNLVLPNRKSPSPVAPHPST
FVATPASHNLVNQTNGTTKESALLLHVLLMVPDGKDFISGESEKQSPCNVYLNCKLFSTE
EVTRSVIAWGTTQPVFNFSQVIPVSLSSKYLERLKNNVMVIETWNKVRSPGQDKLLGLVK
LPLHQFYMSFKDAKISRLLLDAQYPVVAVDSYMPVIDVFSGHQNGSLRVFLAMGSSNQIM
ALQRLKNEEGTLPPFSPRPAHFLDQPTAASVAMAEDRGNGLMEHCFEIHIEMVKGLAPLQ
ATVWGEADCYVQYYFPVQHSQSSVLKGPEFLENGITLKPFRTATTLCVPDPIFNSEHHHS
LLLPAEVPVQRLLLSAFSAQGLVPGGGVQFEIWCRYYYPNVRDQKVAKGTLPLSRICAMV
TTQHREDVGIQTFNLPLTPRIENRKELRNQSSGLLDVGLRYRRSPRTAEGVLAARTVSIS
VQIIRACGLQAAAKALAEREPALQFSATVGVNASVTTHLSFLPQGEQRRTHPVACSFCPE
FSHHVEFTCNLVTQHCSGEACFLAELLEFAEVIFAVYHENTKSASDIISIESCKEYLLGV
VKVPTKELLIKRSGITGWYPIILPEDGGLPHGLELMQKIVGGLELSISFTHRGDRERVLE
AAEHLGWSFENSLKDFVRMDEGEPATVTISTPRLWLPIHCVLLAGHNHIHKNTYCYLRYK
FYDHEAFWTPLKKPKESVNKKQIMVTFKASKRAEVTRGPSLLWYFREERLEIQVWRAYGN
DSVERPHQTDSWIGSAYVDLARLGERSARTLTVSGVYPLFGRNASNLSGAALRVHVVLSS
LSSHLEPTHELDSMDCSSHSESEQLPRRNDEVQLSPPEVISCHQKSPASTQVPCSSTTAE
VRLTQEGPADLDGTFAVSILVERAMHLSLKGSPLTERKVSIPSCCVSFATADESSPVYTQ
VVENTDSPIWNFQQQSRLSKELLLDPQQTLVFKVWHKGDEERVIGFASVDLSPLLSGFQF
VCGWYNITDFSGECQGQIKVAVSPLESLIHFKEERQARRGVETSKSLIPIYSPFSFPASD
TYAAFSSHMARQTLDQLAHASSKELDFSSPGRSDTTRSQASRHEEHVQNIRRFHESLHLQ
GEAPLPCDDKLTTSPLSSQTSILTSLRKNLSELDQIQRYFRQKLTKPFLPLSPQTQTAIS
QHQESCRDHLGPGASSLDPGSQCILEKSSNLVLQVSSLITDLQTITRDSQAALSSHRARS
RSNKATTLPDAQDTEALQERCTMPDEPLVRAPDKGTDSPSPPPLEETSNGGRMLHESLRH
AVPITRMQSSEDTEAGPAYSDEDYEEDIIEPRTLNEITTVTDKTSPWSSVISDTSEVISP
QPDEVQREGPSCPSPGPFCREELMVKSSFLSSPERAVNPHLPRQGSPSQSLVACECEASK
ARVGGESASANPQPIPCPTLSGAQQSSTFVGWSSPQTDQNKEPKSEAPAENEAATSELGD
SADSFKKLPLNLASQSRRENHKGPPIDSSDIRQRQVTTGSETSTKQSLLLPGPIVVPNFF
LPPQQLEASLRMLSLSATLPPAATTDQDKSEATRGALSQRPCRPRPNSLPLNLPEEETLR
IARIFSSQYSQKD
NT seq 7062 nt   +upstreamnt  +downstreamnt
atgaaacaacgaaaaggccaagggtctgggggcagccgtgggcgcaaaaaaagaggttta
agtgacatttctccatctacaagcctgccacctctggttgaaggccagctacgctgtttt
ctaaaacttactgttaatagagtcatatggaagattgcaaagcctcccacttgtgtactt
gtccgagtgagatggtggggagaaacatcagatggaaccctcttttgtcccagggatgca
ttgcagactgaaccaaaagctgtgagaacaactacacgttacgctattcgttgtggtcca
aaacagtttacctcttatctaacagatatggctgtgctggtgctggaagtaatcaccaaa
cttgatggtcttccaattggtagagttcagatcaatggactagctcaactttctccaacc
catcaaatcaatggattttttaccattgtttcatcaacgtctaagaaacttggagaactc
caggtctcacttgccctggaacctctgtcagaaacttacgacagctaccatccacttcct
accactgacatgacagaaaatgtgcttttatctaagcagggattcagagagaatactgaa
cccagcagtacccagtttcaggttccatcaaggcctcgcgacatacataccatcaaaatt
gatggaaaagagttagcagccaacagcagtagatcaaccactccgaggggaaaagaccat
gtatgctttgcagagaaccctgatacaataaaggattcttcctttggactacagcacagt
cttaattcaggacagagtttagagtctgtaactctgaaaggcagagctccacggaagcag
atgtcccttctgaacagttctgaattccagcctcaaattagaacagttgccaagagtcac
agtgactcatgcattctttcttcaaacaacctccctaccaaggatcttctttcagctctg
ttagaacaaggcaataaactgcgtaatgccatggtgatttctgcaatgaaatcaagccca
gagaccagcatgttgttggaccaagttcatcctcctattaatgaagattctcttagagca
tcaacacagatcagagccttttctaggaatcggtttaaagaccacattgaagatcacctc
ctcccttcaactgagaatacattttggagacatgacacaaaagctgataccagagctata
cagctgctattaggcagtgctgaattatcccaaggcaatttctgggatgggctaggctct
cctccagattccccatctcctgggagtgatgtgtattgcatcagtgagctgaatgaccct
cagtatgaccagagtcttctggagaatttattttatacagcacctaaatctgataccagc
atcagtgatttcctcagtgaagaggatgatatcgtcccttctaaaaaaataagccagtca
acagctcttgccagatcatctaaggttctggagtcaagtgatcataagctgaagaagagg
tcagcaggcaagagaaatagaaatttggttgaacaacagatgctctcagaaactccagaa
gatgcccaaacgatgacactaagtgtggatagactggcccttttgggtagaacacattca
gtcagaatcatcatcgaaaccatgggagttcctccagatagtcctcagatgacccctggc
aaaaaaagctatgctggtccaccacctaaggtgactacagcaaaaaagcgcactttcttt
gtagaatatcactttcctgtgggcttttcggaaagcggattgggaaagacagctttgatc
actgaggttgttcgactcgcctccagtaaaattacagatggaaaggtgaagttccagcag
cgatttgtgtttccagtacagtttggtggcccaatgatagagcactggtggaattccaac
ctcactttccaaatttatgtaaagaaaactccacagaaaaagccagaagtcattggatct
gtgtcactttctttgcgagctgtcattcaatcagagctgctttctttcagtgatcagctt
ccagtgcaacaagaaaatggtcagtctccatttggccccctcaaggtaaccatggagctt
attacagataacaaagatttcactggtatcaatactaagttaagtggcaacacccattat
accccactttgtgctcctacaagtccaaataaggcactaccagaacttaaccaagatatg
acctgtaccaaaaatccacaaaacttaaaccaaattcatgaggaaactgcaaagaaagca
cagaacttggtgctccccaaccgaaagtcaccaagccctgtagcaccacatccttcaacc
ttcgtagctacgccagcctcccataatttagtcaatcagacaaatgggacaacaaaagag
agtgctttgctgttgcatgtgctgttgatggtgccagatgggaaagattttattagtgga
gaatctgagaaacaatcaccatgcaatgtttatttaaattgtaaactcttcagcacagag
gaagtcaccagatctgtcatcgcatggggcacaacacaaccggtctttaacttttctcag
gtgattcctgtctctctgtcttccaaatacctggaaaggcttaagaacaatgtgatggta
attgaaacttggaataaggtgcggagcccaggacaggacaagctgctcgggctggtgaaa
cttcccctccaccagttttacatgtcattcaaagatgctaagatttctcgcctgctgctg
gatgcccagtacccagttgttgctgtcgacagctacatgcctgtgattgatgtgttttca
ggccaccaaaatgggagtcttcgagtctttttagctatgggttcttcaaatcaaataatg
gcactacaaagattaaagaatgaagaaggaacactccctcccttcagccctaggccagcc
catttcctggaccagccaactgcagcatctgttgctatggcagaggaccgaggaaatgga
ctgatggagcactgctttgagatccatatagagatggttaaagggctagcccctcttcag
gcaacagtctggggagaagcagattgttatgtccagtactactttccagttcaacactct
caatccagtgtgctgaaaggacctgagttccttgaaaatggaattactctgaagcccttc
agaactgcaaccacactctgtgttccagatcccatctttaatagtgaacaccatcactct
ctcctgttgccagctgaggttccagtgcaaaggctcctactaagtgctttctctgcacag
ggcctcgtgcctggaggtggagtccagtttgaaatctggtgcagatactattatcctaat
gtgagagaccagaaggtcgccaaaggaaccttgccattatcaaggatctgtgctatggta
accacccagcatcgtgaggatgtgggaatacagacctttaatctccctttaacccccagg
attgagaacaggaaagaattgaggaaccagtcatcaggtttactggatgtgggcctaagg
tacaggcgtagtccaagaacagcagagggagttcttgctgcccgaactgtttccatctca
gtccagattatcagagcctgtggtctgcaagcagcagccaaggctttggctgaacgggaa
cccgctctacagtttagtgccacagtcggggtcaatgcctctgtcaccactcatctctcc
ttcctgccccagggagaacagcgccgaacccaccctgtggcctgttctttctgccctgag
ttctcccatcacgttgagttcacatgtaacttggtgactcagcactgtagtggagaggcc
tgtttcctagcagagttgttggagtttgcagaagttatttttgctgtctatcatgaaaat
accaagtcagcaagtgatataatcagtattgagtcatgcaaagagtatctgcttggagta
gtaaaagttccaacaaaagagctgctgatcaagagatctgggatcacaggatggtatcct
atcattttaccagaagacgggggcctacctcatggcctggagctcatgcagaagatcgtg
ggtggtctggagctttcgatttccttcacgcatcgtggagatagagaacgggtgttggaa
gctgctgagcatttgggctggagctttgagaacagcctgaaagattttgtcagaatggat
gaaggggagccagccactgtcaccatctccaccccaaggctgtggctgcccatccattgt
gtgctgcttgctggccacaaccacattcataagaatacatattgctaccttcgctacaag
ttctatgatcatgaagccttttggacccctctcaagaagcctaaggaatctgtaaacaaa
aagcagattatggtcactttcaaggcatccaaaagagcagaagtcaccaggggcccatca
ctgctttggtacttcagggaggagaggctagagatccaagtgtggcgagcttatggcaat
gacagtgtggagagaccccatcagacagacagctggattggctcagcctatgtggacctg
gccagacttggggagaggtcagcgaggacgctaactgtcagtggtgtgtatcctctgttt
ggacgaaatgcttccaacctctcaggagctgccttgcgagttcatgtggttctttcctct
ctttcctcacaccttgagcccactcatgagctggactccatggactgcagcagccacagt
gagtctgagcagctccccagaaggaatgatgaggtccagctctctccaccagaagtcatc
tcctgccaccagaagtctcctgcctccacccaggtcccctgcagcagcaccacagctgaa
gtccgcctgacgcaggagggccctgctgatttggatggaacgtttgcagtcagcatccta
gtagaaagagcaatgcacttgagcttgaaagggagccccttgacagagcggaaagtatcg
atacccagttgttgtgtatcctttgcaacagccgatgagtcatctcctgtatacacccaa
gtggttgaaaacacagattcccccatctggaattttcaacagcagtcaaggctatcaaaa
gagctgcttctggacccacaacaaaccctggtcttcaaagtttggcataaaggagatgag
gagagggtgattggctttgcctcggtggacctctccccacttctctctggcttccagttt
gtctgtggctggtacaacatcacagacttcagtggagagtgccaggggcagataaaagtt
gctgtctcccctttggagagtttgatacacttcaaagaagaaaggcaagcaaggcgtgga
gtggagacctcaaaatcactgatcccaatatacagtcccttttccttccctgcctctgat
acgtatgctgcattctccagccacatggcaaggcagaccctagaccaacttgctcatgcc
tcctcaaaggagcttgatttctcctctcctgggagaagtgataccacaagaagccaagca
tcacgccatgaagagcatgtgcagaacattcgccggtttcatgaatccctgcatcttcag
ggagaggcacccttgccatgtgatgacaaactgaccacatcacctttgtcctcccaaacc
tccattctgacttctctcaggaagaatctgagtgagcttgatcagattcagaggtacttc
cgccagaagctcaccaagcctttcctacccctcagccctcagactcaaacggccatctca
cagcaccaggagagctgtagggaccatcttgggccaggtgccagcagcctagaccctggg
agccagtgtatcctggagaaatccagtaacctggtgttgcaagtcagctccttaatcaca
gatctgcagactatcaccagggattcgcaagcagctttgagttctcaccgagccaggagt
agaagcaacaaggccaccaccctcccagatgctcaggacacagaagcactgcaagaacga
tgcacaatgccagatgagccattggtaagagctccagataaaggcacagattccccatca
ccccctcctctcgaagagacttcaaatggaggaagaatgctccatgagtccctgaggcat
gcagtacccattacaaggatgcagagcagtgaagacactgaggcaggcccagcctacagt
gatgaggactatgaagaagacatcattgagcccaggaccttaaatgagatcaccacggtg
acagacaaaactagcccttggtctagtgtcatatcagacacaagtgaggtcatcagccct
cagcctgacgaggtgcagagggaaggcccctcttgtccttctccagggcctttctgcaga
gaggagcttatggtcaaaagtagctttctctccagcccagaaagggctgtcaacccccac
ctgcctaggcagggttctcctagccaaagtcttgttgcttgtgagtgtgaggcctctaag
gccagggttggtggcgagtctgcctcagccaaccctcagcccatcccatgcccaacactc
tcaggagctcaacagagcagcacgtttgttggatggagctcaccacagacagatcagaac
aaggagcccaagtcagaggccccagctgagaatgaagctgccaccagtgagctcggtgac
tctgctgatagcttcaagaagttgccgctaaatctagcctcccagagcagaagggaaaac
cataagggaccacccatcgactcctctgacatcaggcagaggcaggtgacaactggatca
gagacgtccacaaagcagagcctcctgctcccagggcccattgtggtgcccaacttcttt
ttgcctccccagcagttggaggcttccctgcggatgctttcactctcagcaactttgcca
ccagcagccacaacagatcaggacaagagcgaagccaccaggggagctctctcccaaagg
ccttgtcgccccagacctaactcgctccccctcaacctgcctgaggaagaaactctcagg
attgcacggatattttcttctcagtactcccagaaagactga

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