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  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (4)   
   KEGG NETWORK (4)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (30)   
   KEGG ORTHOLOGY (1)   
   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 (86)   

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