KEGG   Homo sapiens (human): 132884
Entry
132884            CDS       T01001                                 
Symbol
EVC2, LBN, WAD
Name
(RefSeq) EvC ciliary complex subunit 2
  KO
K19608  ellis van creveld syndrome protein 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04340  Hedgehog signaling pathway
Network
nt06217  HH signaling (cancer)
nt06269  Basal cell carcinoma
nt06501  HH signaling
  Element
N00062  Hedgehog signaling pathway
Disease
H00503  Ellis-van Creveld syndrome
H01376  Acrofacial dysostosis
H02158  Weyers acrofacial dysostosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    132884 (EVC2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    132884 (EVC2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  EVC complex
   132884 (EVC2)
SSDB
Motif
Pfam: EVC2_like Frag1
Other DBs
NCBI-GeneID: 132884
NCBI-ProteinID: NP_667338
OMIM: 607261
HGNC: 19747
Ensembl: ENSG00000173040
UniProt: Q86UK5
Position
4:complement(5529011..5709548)
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

  All links  
Disease (3)   
   OMIM (3)   
Gene (29)   
   RefGene (24)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (26)   
   RefSeq(nuc) (12)   
   GenBank (7)   
   EMBL (7)   
Protein domain (2)   
   Pfam (2)   
All databases (74)   

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