PCDH19
entrez
57526
canonical
uniprot
Q8TAB3
canonical
ensembl
ENSG00000165194
resolver
ensp
ENSP00000255531
resolver
ensp
ENSP00000362125
resolver
ensp
ENSP00000400327
resolver
genesymbol
PCDH19
resolver
genesymbol_syn
KIAA1313
resolver
hgnc
HGNC:14270
resolver
uniprot
B0LDS4
resolver
uniprot
B3KU71
resolver
uniprot
E9PAM6
resolver
uniprot
Q5JTG1
resolver
uniprot
Q5JTG2
resolver
uniprot
Q68DT7
resolver
uniprot
Q9P2N3
resolver
uniprot_entry
B3KU71_HUMAN
resolver
uniprot_entry
PCD19_HUMAN
resolver
uniprot_sec
B0LDS4
resolver
uniprot_sec
E9PAM6
resolver
uniprot_sec
Q5JTG1
resolver
uniprot_sec
Q5JTG2
resolver
uniprot_sec
Q68DT7
resolver
uniprot_sec
Q9P2N3
resolver
amino_acid_sequence
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. {ECO:0000269|PubMed:18469813, ECO:0000269|PubMed:19214208, ECO:0000269|PubMed:19752159, ECO:0000269|PubMed:20713952, ECO:0000269|PubMed:20830798, ECO:0000269|PubMed:21053371, ECO:0000269|PubMed:21480887, ECO:0000269|PubMed:21519002, ECO:0000269|PubMed:22050978, ECO:0000269|PubMed:22267240, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-dependent cell-adhesion protein. {ECO:0000250|UniProtKB:F8W3X3}.
uniprot
proteins
mass_dalton
126253
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
11549318
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18469813
uniprot
proteins
pubmed
19214208
uniprot
proteins
pubmed
19752159
uniprot
proteins
pubmed
20713952
uniprot
proteins
pubmed
20830798
uniprot
proteins
pubmed
21053371
uniprot
proteins
pubmed
21480887
uniprot
proteins
pubmed
21519002
uniprot
proteins
pubmed
22050978
uniprot
proteins
pubmed
22267240
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27864847
uniprot
proteins
sequence_length
1148
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:F8W3X3}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 679..699; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins