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

Gene name
EVC2, LBN
Definition
Ellis van Creveld syndrome 2
Organism
hsa  Homo sapiens (human)
Disease
H00503  
EVC-related disorders
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
4p16.2-p16.1
AA seq 1228 aa AA seqDB search
MIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASSGPWAHSLFAFIPSWPKKNLF
KRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEAQTARIWLLVNNTKTTSSANL
SELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAFAVSYAATLQAGDLGNGESLK
LPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAAGFFIAFLLSLVLTWAALFLM
VRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSLNDQMIDILSSEDPGSMLQAL
EELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHLSPQVERKMSAVFKKQFLLLE
NEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEAEELLKRAGERSAVECSNLLR
TLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSIFFTQIKSAIFKGELKPEAAK
MLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQNLQSSETRVQGLLSTAAAQL
THLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDLKQEKKKLHQKLITKRRRELL
QKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGATLEELQERLDQAALDDLRTLT
LSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEHGKEMAARAEQLEGEERDRDQ
EGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSVFSLSEEELLRMRQEVHGCFA
QMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPELQQQSKVRKSRSKSKSKGEL
LKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQEGGFAQSLVALQFQKASRVTE
TLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRELQELERKLEDQLVQQEAAQQ
QQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSKSQTLLEQHQQCLREEQQNSV
VLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLRRLLSVVLPTASQPQLLALLD
SATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLRGDLISRGLEKMLWARKRKQS
ILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGAETIDLLNTGEKLFIFRNPKE
PEISLHVPPRKKKNFLNAKKAMRALGMD
NT seq 3687 nt NT seq  +upstreamnt  +downstreamnt
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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