KEGG   Homo sapiens (human): 57526Help
Entry
57526             CDS       T01001                                 

Gene name
PCDH19, EFMR, EIEE9
Definition
(RefSeq) protocadherin 19
  KO
K16499  protocadherin delta 2
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
H01775  PCDH19-related epilepsy syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    57526 (PCDH19)
Cell adhesion molecules [BR:hsa04515]
 Cadherins
  Protocadherins
   57526 (PCDH19)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Cadherin Cadherin_2 Cadherin_C_2
Motif
Other DBs
NCBI-GeneID: 57526
NCBI-ProteinID: NP_001171809
OMIM: 300460
HGNC: 14270
Ensembl: ENSG00000165194
Vega: OTTHUMG00000022000
Pharos: Q8TAB3(Tbio)
UniProt: Q8TAB3
Position
Xq22.1
AA seq 1148 aa AA seqDB search
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASA
FRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIK
DLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKT
RGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSE
STYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTV
TGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSE
SAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN
LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDP
DLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGL
PSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGEN
GRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLI
YLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLT
ITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKK
ISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT
RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLE
GNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREE
CRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGK
DVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPS
VSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGV
KRLKDIVL
NT seq 3447 nt NT seq  +upstreamnt  +downstreamnt
atggagtcgctcctgctgccggtgctgctgctgctggccatactgtggacgcaggctgcc
gccctcattaatctcaagtactcggtagaagaggagcagcgcgccgggacggtgattgcc
aacgtggccaaagacgcgcgagaggcgggcttcgcgctggacccccggcaggcttcagcc
tttcgcgtggtgtccaactcggctccacacctagtggacatcaatcccagctctggcctg
ctggtcaccaagcagaagattgaccgtgatctgctgtgccgccagagccccaagtgcatc
atctcgctcgaggtcatgtccagctcaatggaaatctgcgtgataaaggtggagatcaag
gacctgaacgacaatgcgcccagtttcccggcagcacagatcgagctggagatctcggag
gcagccagccctggcacgcgcatcccgctggacagcgcttacgatccagactcaggaagc
tttggcgtgcagacttacgagctcacgcccaacgagctgttcggcctggagatcaagacg
cgcggcgacggctcccgctttgccgaactcgtggtggaaaagagcctggaccgcgagacg
cagtcgcactacagcttccgaatcactgcgctagacggtggcgacccgccgcgcctgggc
accgttggccttagtatcaaggtgaccgactccaatgacaacaacccggtgtttagcgag
tccacctacgcggtgagcgtgccagaaaactcgcctcccaacacacccgtcatccgcctc
aacgccagcgatccagacgagggcaccaacggccaggtggtctactccttctatggctac
gtcaacgaccgcacgcgcgagctctttcagatcgacccgcacagtggcctggtcactgtc
actggcgctttagactacgaagaggggcacgtgtacgaactggacgtgcaggctaaggac
ttggggcccaattccatcccggcacactgcaaggtcaccgtcagcgtgctggacaccaat
gacaatccgccggtcatcaacctgctgtcagtcaacagtgagcttgtggaggtcagcgag
agcgcccccccgggctacgtgatcgccttggtgcgggtgtctgatcgcgactcaggcctc
aatggacgtgtgcagtgccgtttgctgggcaatgtgccctttcgactgcaggaatatgag
agcttctccactattctggtggacggacggctggaccgcgagcagcacgaccaatacaac
ctcacaattcaggcacgcgacggcggcgtgcccatgctgcagagtgccaagtcctttacc
gtgctcatcactgacgaaaatgacaaccacccgcacttttccaagccctactaccaggtc
attgtgcaggagaacaacacgcctggcgcctatctgctctctgtgtctgctcgcgacccc
gacctgggtctcaacggcagtgtctcctaccagatcgtgccgtcgcaggtgcgggacatg
cctgtcttcacctatgtctccatcaatcccaactcaggcgacatctacgcgctgcgatcc
tttaaccacgagcagaccaaggcgttcgaattcaaggtgctggccaaggacggcggcctt
ccctcactgcaaagcaacgctacggtgcgggtcatcatcctcgacgtcaacgacaacacc
ccggtcatcacagccccacctctgattaacggcactgccgaggtctacataccccgcaac
tctggcataggctacctggtgactgttgtcaaggcagaagactacgatgagggcgaaaat
ggccgagtcacctacgacatgaccgagggcgaccgcggcttctttgaaatagaccaggtc
aatggcgaagtcagaaccacccgcaccttcggggagagctccaagtcctcctatgagctt
atcgtggtggctcacgaccacggcaagacatctctctctgcctctgctctcgtcctaatc
tacttgtcccctgctctcgatgcccaagagtcaatgggctctgtgaacttgtccttgatt
ttcattattgccctgggctccattgcgggcatcctctttgtaactatgatcttcgtggca
atcaagtgcaagcgagacaacaaagagatccggacctacaactgcagtaattgtttaacc
atcacttgtctcctcggctgttttataaaaggacaaaacagcaagtgtctgcattgcatc
tcggtttctcccattagcgaggagcaagacaaaaagacagaggagaaagtgagcctaagg
ggaaagagaattgctgagtactcctatgggcatcaaaagaaatcaagcaagaagaaaaaa
atcagtaagaatgacatccgcctggtaccccgggatgtggaggagacagacaagatgaac
gttgtcagttgctcttccctgacctcctccctcaactattttgactaccaccagcagacg
ctgcccctgggctgccgccgctctgagagcactttcctgaatgtggagaaccagaatacc
cgcaacaccagtgctaaccacatctaccatcactctttcaacagccaggggccccagcag
cctgacctgattatcaacggtgtgcctctgcctgagactgaaaactattcttttgactcc
aactacgtgaatagccgagcccatttaatcaagagcagctccaccttcaaggacttagag
ggcaacagcctgaaggatagtggacatgaggagagtgaccaaactgacagtgagcatgat
gtccagcggagcctgtattgtgatactgctgtcaacgatgtgctgaacaccagtgtgacc
tccatgggatctcagatgcctgatcatgatcagaatgaaggatttcattgccgggaagaa
tgccggattcttggccactctgacaggtgctggatgccccggaaccccatgcccatccgt
tccaagtcccctgagcatgtgaggaacatcatcgcgctgtctattgaagctactgctgct
gatgtcgaggcttatgacgactgcggccccaccaaacggactttcgcaacctttgggaaa
gatgtcagcgaccacccggctgaggagaggcctaccctgaaaggcaagaggactgtcgat
gtgaccatctgcagccccaaggtcaacagcgttatccgggaggcaggcaatggctgtgag
gcgattagccctgtcacctcccccctccacctcaagagctctctgcccaccaagccttcc
gtgtcttacaccattgccctggctcccccagcccgtgatctggagcagtatgtcaacaat
gtcaacaatggccctactcgtccctctgaagctgagccccgtggagctgatagcgagaaa
gtcatgcatgaggtcagccccattctgaaggaaggtcgcaacaaagagtcccctggtgtg
aagcgtctgaaggatatcgttctctaa

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