KEGG   Homo sapiens (human): 132884
Entry
132884            CDS       T01001                                 

Gene name
EVC2, LBN, WAD
Definition
(RefSeq) EvC ciliary complex subunit 2
  KO
K19608  ellis van creveld syndrome protein 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04340  Hedgehog signaling pathway
Disease
H00503  Ellis-van Creveld syndrome
H01376  Acrofacial dysostosis
H02158  Weyers acrodental dysostosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    132884 (EVC2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    132884 (EVC2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Other cilium assembly proteins
    132884 (EVC2)
SSDB
Motif
Pfam: EVC2_like
Other DBs
NCBI-GeneID: 132884
NCBI-ProteinID: NP_667338
OMIM: 607261
HGNC: 19747
Ensembl: ENSG00000173040
Vega: OTTHUMG00000125493
Pharos: Q86UK5(Tbio)
UniProt: Q86UK5
Position
4p16.2
AA seq 1308 aa
MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGL
RIPPGRSGAGPESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASS
GPWAHSLFAFIPSWPKKNLFKRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEA
QTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAF
AVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAA
GFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSL
NDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHL
SPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEA
EELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSI
FFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQ
NLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDL
KQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGAT
LEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEH
GKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSV
FSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPE
LQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQE
GGFAQSLVALQFQKASRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRE
LQELERKLEDQLVQQEAAQQQQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSK
SQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLR
RLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLR
GDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGA
ETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD
NT seq 3927 nt   +upstreamnt  +downstreamnt
atggacccctcgggctcccgggggcgccccacgtgggtgctggccgggggtctcctggca
gtggccctggcgctggggggccgaggctgtctcggcgccagctcacgtccccgctggcgc
cccctcggcgcgcagccaccccgggatccccaggtggctcctaggtctgggcccggcctg
aggatccctccggggcggagcggggcggggcccgagagcagcacgcaggacttgccctgt
atgatttggcccaaagtggaatgctgtcactttaagactgcagtggaagcaccacttgga
atgaaattggacaagaaaatggaagtcttcatcccactctcaacttctgcagcctctagt
gggccatgggctcattccttatttgcttttataccctcctggcctaagaagaacttattt
aaaagagagtctcctataacacaccgcctgtatggggacatttcaagagaagttcaaggg
acttctgaaaatggagtaatttttcagaaatgtgcactggtgtctgggtcgagtgaagca
cagacagcccgcatatggctgcttgttaacaacaccaagacaacctcgtcagccaacctc
tcggagctgctcttgctggacagcattgctggtctcaccatttgggactctgtgggaaac
aggacctcggaaggattccaggcttttagcaagaagtttctgcaagtgggagatgccttt
gctgtcagctacgcagccacgctccaggctggagacctcgggaacggggagagcctcaag
cttcctgcccaactcacctttcagagctcgtcacggaacagaacacagctgaaagtgctt
ttttccataacagcagaagaaaacgtaacggttctgccgcaccacggcctccacgcagca
gggttcttcattgccttcctcctctcccttgtgctgacctgggctgccctcttcctcatg
gttcgctatcagtgtctgaagggaaacatgctcaccagacatcgggtttggcagtatgag
agcaagctggaacccttgccgttcacctcagctgatggcgtgaatgaggacctttccctt
aacgaccaaatgatagacattctgtcttccgaggaccctgggagcatgcttcaagcctta
gaagagttggagattgcaaccctgaatcgggcagatgcagatctggaggcttgtcgaaca
caaatcagcaaggatatcattgcccttctgctgaaaaatctcaccagcagtggccacctc
tcaccccaagtagagagaaaaatgagtgctgttttcaaaaagcagtttctattgctggaa
aatgaaatacaagaggagtacgatcggaagatggtggcattgacagctgaatgtgacctg
gaaacaagaaagaagatggaaaaccagtaccagagagagatgatggcaatggaggaagca
gaagagttgctgaaacgtgctggtgagaggtctgctgtagagtgcagcaaccttctgcgg
accctccatggcctggaacaggagcacttgaggaagtctctcgctttgcaacaagaagaa
gactttgccaaagctcacagacagctggctgttttccagagaaatgaactgcacagtatc
ttttttacccagataaaaagtgctattttcaaaggggaattgaaaccagaggcagctaaa
atgctgctgcaaaattattctaaaatacaggagaatgtagaagagttaatggactttttc
caggctagtaagaggtatcatctaagtaaaagatttggccacagggaatatctggtccag
aacctccagtcatcagagacccgtgtgcagggccttctgagcaccgctgcagcccagctg
actcacctcattcagaagcacgagagagcagggtacctggatgaagaccaaatggaaatg
ctattggagcgggctcagacagaagtcttttcaatcaagcagaagttggacaatgactta
aagcaggaaaagaaaaagctccaccaaaaattaataactaagagaagacgagagttgcta
caaaagcacagggagcagcgtagggagcaggcgtccgtcggcgaggccttccgaacggtt
gaggatgccggccagtacctgcaccagaagaggagcctgatggaggagcacggtgccacc
ctggaggagctgcaggagcgtctggaccaggccgccctggacgatctcaggaccctgacc
ctttcgctgtttgaaaaggccaccgacgagctgcggcgcctgcagaactcagccatgacc
caggagctgctcaagcgtggggtgccctggctcttcctgcagcagatcctggaggagcac
ggcaaggagatggctgcacgggccgagcagctggagggggaggagagggacagggaccag
gagggtgtccagagcgtgaggcagagactgaaggatgacgctcctgaggccgtgacagag
gagcaggcagagctgcgacgctgggagcacctgatcttcatgaagctctgctcctcagtc
ttctccctgtctgaagaggagctgctcaggatgaggcaggaggtccatggctgctttgct
cagatggacaggagcttggccctccccaagatccgggcccgagttctgctgcagcaattt
cagactgcgtggcgagaagcagagttcgtgaagctggaccaggccgtggctgcccctgag
ctgcagcaacagtccaaggtgagaaagtcacggtccaagagtaaaagcaagggagagctt
ctgaagaagtgcatcgaagacaaaattcacctctgtgaggaacaggcctctgaagacctg
gtggaaaaggttcgaggtgaattgctgcgggagagagtgcagcggatggaggcacaggag
ggaggctttgcacagtcgcttgttgctctgcagttccagaaggcgtcccgggtgaccgag
actctgtcggcctacaccgccctcctcagcatccaggacttgctcctggaagagctgagt
gcatctgagatgctgaccaagtcggcctgcacacagatcctggagtcgcacagccgggag
ctccaggagttggagaggaagctggaggaccagctggtgcagcaggaggcagcccagcag
cagcaggccctggcgagctggcagcagtgggtggccgatgggcccgggattctgaacgaa
cctggggaggtggattctgaaaggcaggtctctactgtcctgcaccaagccctgagcaag
agccagacattactggagcaacatcagcagtgtttgagagaggaacaacagaacagtgtc
gtgctagaagacttgttggaaaacatggaggcagacacctttgcaaccctgtgcagccag
gagctgagactggcatcgtacctggcgaggatggccatggtgcccggggccacgcttcgc
cggctcctgagtgtggtactgcccacagcctcacagcctcagctgctggccctgctggat
tcggccaccgagagacatgtggaccacgcagctgagagcgatggcggagcggagcaggcc
gacgtgggcaggcggaggaaacaccagagctggtggcaagccttagatggcaaactgcga
ggagatctgataagcagaggattagaaaagatgctgtgggcccgcaagagaaagcagagc
atattaaagaagacatgtctccctctcagagagaggatgatattctctggaaaaggaagt
tggccacacctgtcactggagcccattggcgaactggcccctgtacccattgtaggggca
gaaaccattgatctattaaacacaggagagaagctctttatattcagaaatccaaaggag
ccagagatctcactgcacgttcctcccaggaaaaagaagaactttttgaatgccaaaaag
gccatgagggccttgggcatggactag

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