Details for: PCDH19
Associated with
Other Information
Genular Protein ID: 3273508289
Symbol: PCD19_HUMAN
Name: Protocadherin-19
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 18469813
Title: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
PubMed ID: 18469813
DOI: 10.1038/ng.149
PubMed ID: 15772651
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 10718198
Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10718198
PubMed ID: 11549318
Title: Identification and characterization of three members of a novel subclass of protocadherins.
PubMed ID: 11549318
PubMed ID: 20830798
Title: Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
PubMed ID: 20830798
DOI: 10.1002/ajmg.a.33611
PubMed ID: 19214208
Title: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PubMed ID: 19214208
PubMed ID: 19752159
Title: Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
PubMed ID: 19752159
PubMed ID: 20713952
Title: Protocadherin 19 mutations in girls with infantile-onset epilepsy.
PubMed ID: 20713952
PubMed ID: 21480887
Title: Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
PubMed ID: 21480887
PubMed ID: 21053371
Title: Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
PubMed ID: 21053371
DOI: 10.1002/humu.21373
PubMed ID: 21519002
Title: Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
PubMed ID: 21519002
PubMed ID: 22050978
Title: PCDH19 mutation in Japanese females with epilepsy.
PubMed ID: 22050978
PubMed ID: 22267240
Title: PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder.
PubMed ID: 22267240
DOI: 10.1002/humu.22029
PubMed ID: 25818041
Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
PubMed ID: 25818041
DOI: 10.1111/epi.12954
PubMed ID: 26993267
Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PubMed ID: 26993267
PubMed ID: 27864847
Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
PubMed ID: 27864847
DOI: 10.1002/humu.23149
Sequence Information:
- Length: 1148
- Mass: 126253
- Checksum: AF8721355A33C1C2
- Sequence:
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA IKCKRDNKEI RTYNCSNCLT ITCLLGCFIK GQNSKCLHCI SVSPISEEQD KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK ISKNDIRLVP RDVEETDKMN VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT RNTSANHIYH HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD QNEGFHCREE CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA DVEAYDDCGP TKRTFATFGK DVSDHPAEER PTLKGKRTVD VTICSPKVNS VIREAGNGCE AISPVTSPLH LKSSLPTKPS VSYTIALAPP ARDLEQYVNN VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV KRLKDIVL
Genular Protein ID: 710277866
Symbol: B3KU71_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
Sequence Information:
- Length: 602
- Mass: 66614
- Checksum: 6989369240381CDC
- Sequence:
MPVFTYVSIN PNSGDIYALR SFNHEQTKAF EFKVLAKDGG LPSLQSNATV RVIILDVNDN TPVITAPPLI NGTAEVYIPR NSGIGYLVTV VKAEDYDEGE NGRVTYDMTE GDRGFFEIDQ VNGEVRTTRT FGESSKSSYE LIVVAHDHGK TSLSASALVL IYLSPALDAQ ESMGSVNLSL IFIIALGSIA GILFVTMIFV AIKCKRDNKE IRTYNCRIAE YSYGHQKKSS KKKKISKNDI RLVPRDVEET DKMNVVSCSS LTSSLNYFDY HQQTLPLGCR RSESTFLNVE NQNTRNTSAN HIYHHSFNSQ GPQQPDLIIN GVPLPETENY SFDSNYVNSR AHLIKSSSTF KDLEGNSLKD SGHEESDQTD SEHDVQRSLY CDTAVNDVLN TSVTSMGSQM PDHDQNEGFH CREECRILGH SDRCWMPRNP MPIRSKSPEH VRNIIALSIE ATAADVEAYD DCGPTKRTFA TFGKDVSDHP AEERPTLKGK RTVDVTICSP KVNSVIREAG NGCEAISPVT SPLHLKSSLP TKPSVSYTIA LAPPARDLEQ YVNNVNNGPT RPSEAEPRGA DSEKVMHEVS PILKEGRNKE SPGVKRLKDI VL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.