Homo sapiens (human): 26005
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
C2
Motif
Other DBs
NCBI-GeneID:
26005
NCBI-ProteinID:
NP_001273506
OMIM:
615944
HGNC:
24564
Ensembl:
ENSG00000168014
UniProt:
Q4AC94
LinkDB
All DBs
Position
11:complement(74012718..74171002)
Genome browser
AA seq
2353 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system