Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57526
Gene name	Protocadherin 19
Gene symbol	PCDH19
Synonyms (NCBI Gene)	DEE9EFMREIEE9
Chromosome	X
Chromosome location	Xq22.1
Summary	The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene

155

Show/Hide all (155)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34651888	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs132630323	A>T	Pathogenic	Coding sequence variant, missense variant
rs132630324	G>A	Pathogenic	Coding sequence variant, stop gained
rs132630325	G>C	Pathogenic	Coding sequence variant, stop gained
rs132630326	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137962077	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs138771033	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189342249	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs191333060	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, likely-benign	Missense variant, coding sequence variant
rs192354176	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Synonymous variant, coding sequence variant
rs193148631	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs201671718	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201713027	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs201810406	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201989363	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic, likely-benign	Missense variant, coding sequence variant
rs267606933	G>A,C	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs369638371	G>A,C	Likely-pathogenic, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs370859689	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs372006606	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376946966	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123603	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587784295	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587784299	T>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587784300	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs749662385	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs756414485	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs758946412	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs769967221	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs772837341	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773740606	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs779136255	->CTCTTTCCCCTTAGGCTCACTTTCTCC	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs794726896	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794726897	G>A	Pathogenic	Stop gained, coding sequence variant
rs796052794	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs796052795	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs796052796	G>A,C,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs796052797	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796052798	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796052799	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs796052801	G>C	Pathogenic	Stop gained, coding sequence variant
rs796052802	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs796052806	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796052807	A>T	Pathogenic	Missense variant, coding sequence variant
rs796052811	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs796052812	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs796052815	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs796052816	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796052817	G>C	Pathogenic	Stop gained, coding sequence variant
rs796052819	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs796052820	G>A	Pathogenic	Stop gained, coding sequence variant
rs796052822	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs796052825	ATG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs796052826	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052827	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052828	CACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052829	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052830	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052831	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052832	CTGTGATGACCGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052833	AGGTAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052834	->G	Pathogenic	Frameshift variant, coding sequence variant
rs796052835	GAGA>-,GA,GAGAGA	Pathogenic	Frameshift variant, coding sequence variant
rs796052836	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052837	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs796052839	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs796052841	->C	Pathogenic	Frameshift variant, coding sequence variant
rs796052842	->C	Pathogenic	Frameshift variant, coding sequence variant
rs796052844	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045873	G>A	Pathogenic	Stop gained, coding sequence variant
rs863224907	GC>AT	Likely-pathogenic	Missense variant, coding sequence variant
rs886039707	GCGCGGCGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039728	T>C	Pathogenic	Splice acceptor variant
rs886043572	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044166	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520761	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057521256	G>A,C	Likely-benign, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057524751	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1060502175	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs1060502176	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794762	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794763	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794781	AGCTGCTGG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1064795237	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795511	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795834	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797376	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064797377	AAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307873	AGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691362	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1131691509	CGGGAT>GGGAA	Pathogenic	Frameshift variant, coding sequence variant
rs1131691603	C>A	Pathogenic	Coding sequence variant, stop gained
rs1131691646	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1131692002	CGGCACGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1239794408	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1367823627	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555984437	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555984453	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555984946	A>G	Pathogenic	Splice donor variant
rs1555984947	C>T	Pathogenic	Splice donor variant
rs1555985105	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555985142	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555985163	CCAGGTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555985301	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555985368	T>A	Pathogenic	Missense variant, coding sequence variant
rs1555985372	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555985389	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555985416	->GGTCG	Pathogenic	Frameshift variant, coding sequence variant
rs1555985427	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555985475	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555985482	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555985543	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555985623	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555985639	GC>AT	Pathogenic	Stop gained, coding sequence variant
rs1555985689	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555985745	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555985780	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555985799	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555985820	GC>AA	Pathogenic	Stop gained, coding sequence variant
rs1555985864	CAGCAGCAGCAGCACCGGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569314119	T>A	Pathogenic	Coding sequence variant, stop gained
rs1569314152	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569314471	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1569314475	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569314809	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569315042	GA>-	Pathogenic	Coding sequence variant, stop gained
rs1569315156	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569315186	T>A	Pathogenic	Coding sequence variant, stop gained
rs1569315231	G>C	Pathogenic	Coding sequence variant, stop gained
rs1569315381	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569315508	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1569315842	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569315876	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1569315950	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1602595101	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602595136	T>C	Pathogenic	Intron variant
rs1602600561	C>T	Pathogenic	Splice acceptor variant
rs1602632270	C>T	Likely-pathogenic	Splice donor variant
rs1602635261	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602635282	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602635656	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602635781	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636059	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636096	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602636466	ACGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636591	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636925	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1602636952	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602637452	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602637517	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602637696	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602637774	T>A	Pathogenic	Coding sequence variant, stop gained
rs1602638228	GGGGCTCTGGCGGCACAGCAGATCACGGTCAAT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1602638456	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602638463	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602638594	GCGGCAGCCTGCGT>-	Pathogenic	Coding sequence variant, frameshift variant

189

Show/Hide all (189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT053730	hsa-miR-624-3p	Microarray	22942087
MIRT643749	hsa-miR-548m	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT635137	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT643749	hsa-miR-548m	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT635137	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1216820	hsa-miR-1256	CLIP-seq
MIRT1216821	hsa-miR-141	CLIP-seq
MIRT1216822	hsa-miR-200a	CLIP-seq
MIRT1216823	hsa-miR-3120-3p	CLIP-seq
MIRT1216824	hsa-miR-3682-3p	CLIP-seq
MIRT1216825	hsa-miR-3973	CLIP-seq
MIRT1216826	hsa-miR-4747-5p	CLIP-seq
MIRT1216827	hsa-miR-545	CLIP-seq
MIRT1216828	hsa-miR-562	CLIP-seq
MIRT1216829	hsa-miR-802	CLIP-seq
MIRT1216830	hsa-miR-124	CLIP-seq
MIRT1216831	hsa-miR-1303	CLIP-seq
MIRT1216832	hsa-miR-132	CLIP-seq
MIRT1216833	hsa-miR-1323	CLIP-seq
MIRT1216821	hsa-miR-141	CLIP-seq
MIRT1216834	hsa-miR-1470	CLIP-seq
MIRT1216835	hsa-miR-149	CLIP-seq
MIRT1216822	hsa-miR-200a	CLIP-seq
MIRT1216836	hsa-miR-212	CLIP-seq
MIRT1216837	hsa-miR-3064-5p	CLIP-seq
MIRT1216838	hsa-miR-3123	CLIP-seq
MIRT1216839	hsa-miR-338-5p	CLIP-seq
MIRT1216840	hsa-miR-3591-3p	CLIP-seq
MIRT1216841	hsa-miR-3607-3p	CLIP-seq
MIRT1216824	hsa-miR-3682-3p	CLIP-seq
MIRT1216842	hsa-miR-3692	CLIP-seq
MIRT1216843	hsa-miR-371b-5p	CLIP-seq
MIRT1216844	hsa-miR-3925-5p	CLIP-seq
MIRT1216845	hsa-miR-3942-5p	CLIP-seq
MIRT1216846	hsa-miR-4287	CLIP-seq
MIRT1216847	hsa-miR-4436b-5p	CLIP-seq
MIRT1216848	hsa-miR-4469	CLIP-seq
MIRT1216849	hsa-miR-4517	CLIP-seq
MIRT1216850	hsa-miR-4667-3p	CLIP-seq
MIRT1216851	hsa-miR-4685-3p	CLIP-seq
MIRT1216852	hsa-miR-4703-5p	CLIP-seq
MIRT1216853	hsa-miR-4713-5p	CLIP-seq
MIRT1216854	hsa-miR-4719	CLIP-seq
MIRT1216855	hsa-miR-4794	CLIP-seq
MIRT1216856	hsa-miR-4799-5p	CLIP-seq
MIRT1216857	hsa-miR-4803	CLIP-seq
MIRT1216858	hsa-miR-486-5p	CLIP-seq
MIRT1216859	hsa-miR-494	CLIP-seq
MIRT1216860	hsa-miR-500a	CLIP-seq
MIRT1216861	hsa-miR-501-5p	CLIP-seq
MIRT1216862	hsa-miR-506	CLIP-seq
MIRT1216863	hsa-miR-513b	CLIP-seq
MIRT1216864	hsa-miR-539	CLIP-seq
MIRT1216865	hsa-miR-548o	CLIP-seq
MIRT1216866	hsa-miR-760	CLIP-seq
MIRT1216829	hsa-miR-802	CLIP-seq
MIRT1216832	hsa-miR-132	CLIP-seq
MIRT2062570	hsa-miR-203	CLIP-seq
MIRT1216836	hsa-miR-212	CLIP-seq
MIRT2062571	hsa-miR-3148	CLIP-seq
MIRT2062572	hsa-miR-3662	CLIP-seq
MIRT2062573	hsa-miR-3919	CLIP-seq
MIRT1216825	hsa-miR-3973	CLIP-seq
MIRT2062574	hsa-miR-4265	CLIP-seq
MIRT2062575	hsa-miR-4296	CLIP-seq
MIRT2062576	hsa-miR-4310	CLIP-seq
MIRT2062577	hsa-miR-4322	CLIP-seq
MIRT2062578	hsa-miR-4772-5p	CLIP-seq
MIRT1216857	hsa-miR-4803	CLIP-seq
MIRT2291019	hsa-miR-34b	CLIP-seq
MIRT2291020	hsa-miR-4705	CLIP-seq
MIRT2291021	hsa-miR-507	CLIP-seq
MIRT2291022	hsa-miR-557	CLIP-seq
MIRT1216821	hsa-miR-141	CLIP-seq
MIRT1216822	hsa-miR-200a	CLIP-seq
MIRT1216824	hsa-miR-3682-3p	CLIP-seq
MIRT1216829	hsa-miR-802	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

MIM	HGNC	e!Ensembl
300460	14270	ENSG00000165194

Q8TAB3

Protein name

Protocadherin-19

Protein function

Calcium-dependent cell-adhesion protein.

PDB

6VFU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08266	Cadherin_2	24 → 109	Cadherin-like	Domain
PF00028	Cadherin	134 → 229	Cadherin domain	Domain
PF00028	Cadherin	243 → 337	Cadherin domain	Domain
PF00028	Cadherin	354 → 444	Cadherin domain	Domain
PF00028	Cadherin	458 → 554	Cadherin domain	Domain
PF00028	Cadherin	573 → 663	Cadherin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast

Sequence

MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASA
FRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIK
DLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKT
RGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSE
STYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTV
TGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSE
SAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN
LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDP
DLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGL
PSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGEN
GRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLI
YLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLT
ITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKK
ISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT
RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLE
GNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREE
CRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGK
DVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPS
VSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGV
KRLKDIVL

Sequence length

1148

Interactions

View interactions

1227

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bilateral tonic-clonic seizure	Likely pathogenic	rs2147539571, rs1569315842	RCV001808937 RCV000678822
Complex febrile seizure	Pathogenic	rs1926541478	RCV001089582
Developmental and epileptic encephalopathy, 9	Pathogenic; Likely pathogenic	rs796052819, rs1928459143, rs796052813, rs764650219, rs796052807, rs2147542056, rs2147543046, rs2147485040, rs2147492627, rs2147492697, rs2147532974, rs2147533148, rs2147533439, rs1555984947, rs2147537315 View all (268 more)	RCV001323634 RCV001320718 RCV001350410 RCV001368289 RCV001379622 RCV001378907 RCV001379045 RCV001386597 RCV001384363 RCV001387035 RCV001383067 RCV001388305 RCV001388302 RCV001389204 RCV001381936 RCV001383902 RCV001381147 RCV001383068 RCV001383802 RCV001386920 RCV001387616 RCV001383903 RCV001386056 RCV001388487 RCV001383905 RCV001385648 RCV001390870 RCV001383320 RCV001542635 RCV001667868 RCV001775238 RCV001775401 RCV001782577 RCV001782578 RCV001782579 RCV001785392 RCV001885229 RCV002039196 RCV001943080 RCV001943084 RCV001925597 RCV001930434 RCV001888771 RCV001960360 RCV002018261 RCV001908859 RCV001908866 RCV001903236 RCV001898593 RCV001972159 RCV002037884 RCV002024518 RCV002007471 RCV002009343 RCV001941916 RCV001941996 RCV001939331 RCV002000444 RCV001970055 RCV001946652 RCV001956151 RCV001956169 RCV001956170 RCV001915725 RCV001896392 RCV001896415 RCV001976942 RCV001928117 RCV002249121 RCV002250177 RCV002250178 RCV002250179 RCV002250180 RCV002264841 RCV003509707 RCV002275662 RCV000147084 RCV002291240 RCV002291241 RCV002291242 RCV002291243 RCV002291244 RCV002291245 RCV002291246 RCV002463407 RCV002466348 RCV004798965 RCV003064748 RCV003075003 RCV001054719 RCV002659205 RCV002517880 RCV000192451 RCV003621515 RCV001004686 RCV000698779 RCV000173240 RCV000533782 RCV002514025 RCV000560023 RCV001389178 RCV000641136 RCV002272165 RCV001857629 RCV005089946 RCV001378123 RCV003621514 RCV002821068 RCV002814539 RCV002819172 RCV002824192 RCV002824911 RCV002856880 RCV002833805 RCV002889611 RCV002880541 RCV002847907 RCV000193596 RCV002890130 RCV002942787 RCV002958066 RCV002962266 RCV002991419 RCV003013335 RCV003006136 RCV003038748 RCV003025210 RCV003059115 RCV003036709 RCV003048861 RCV003048222 RCV003040520 RCV003224933 RCV000011763 RCV000011764 RCV000011765 RCV000011766 RCV000011767 RCV000011768 RCV000011769 RCV001211095 RCV003318477 RCV003333500 RCV003509903 RCV003509868 RCV003510524 RCV003511236 RCV003509254 RCV003509062 RCV003509063 RCV003509064 RCV003509066 RCV003509417 RCV003509421 RCV003509457 RCV003510100 RCV003509333 RCV003510120 RCV003510232 RCV003510278 RCV003510279 RCV003510326 RCV003621780 RCV003622512 RCV003622645 RCV003622884 RCV003623062 RCV003623266 RCV003623173 RCV003623284 RCV003623314 RCV003623191 RCV003623391 RCV003623396 RCV003828537 RCV003988295 RCV002522713 RCV000476281 RCV000475650 RCV001242648 RCV001348836 RCV002524035 RCV001865562 RCV000660226 RCV000515722 RCV001064734 RCV001217491 RCV001383904 RCV005091194 RCV000763636 RCV001199428 RCV002525115 RCV000560645 RCV000529603 RCV000555563 RCV000534695 RCV000551347 RCV000689380 RCV000641125 RCV000641131 RCV000641139 RCV000660879 RCV000680057 RCV000699394 RCV000703107 RCV000700933 RCV000698231 RCV000685792 RCV000990909 RCV000797290 RCV000820009 RCV000758011 RCV000760237 RCV001379144 RCV000768278 RCV000790437 RCV000806239 RCV000815526 RCV000806933 RCV000802161 RCV000822182 RCV000802351 RCV000803969 RCV000792490 RCV000802921 RCV000813959 RCV000802924 RCV000853589 RCV000984505 RCV000990899 RCV000990900 RCV000990901 RCV000990902 RCV000990903 RCV000990904 RCV000990905 RCV000990906 RCV000990907 RCV000990908 RCV000990910 RCV000990911 RCV001199425 RCV001199424 RCV001199426 RCV001199419 RCV001199418 RCV001004688 RCV001004695 RCV001004683 RCV001089725 RCV001068713 RCV001047027 RCV001053803 RCV001054864 RCV001047468 RCV001063090 RCV001066952 RCV001043504 RCV001041816 RCV001052229 RCV001060254 RCV001039181 RCV001041094 RCV001071976 RCV001089699 RCV001089723 RCV001089697 RCV001089701 RCV001089724 RCV001089698 RCV001089726 RCV001089900 RCV005093464 RCV001194605 RCV001222059 RCV001223289 RCV001220917 RCV001218941 RCV001220105 RCV001224481 RCV001220445 RCV001211233 RCV001204207 RCV001201946 RCV001213098 RCV001234420 RCV001231311 RCV001231976 RCV001235367 RCV001235273 RCV001233401 RCV001233479 RCV001234629 RCV001238999 RCV001247902 RCV001247771 RCV001242738 RCV001244998 RCV001250740 RCV001252103 RCV001253589 RCV001262462 RCV001260930 RCV001291527 RCV001064429 RCV001298996
developmental delay with seizures	Likely pathogenic; Pathogenic	rs772837341	RCV000678823
Epilepsy	Pathogenic	rs796052839	RCV004017473
Epileptic encephalopathy	Likely pathogenic	rs775309866	RCV003485002
Focal-onset seizure	Pathogenic	rs796052800	RCV001836982
Glycine encephalopathy	Likely pathogenic	rs1555985142, rs1928356260, rs1928358562, rs748611349, rs1928431321, rs1928446616	RCV001199428 RCV001199425 RCV001199424 RCV001199426 RCV001199419 RCV001199418
Intellectual disability	Likely pathogenic	rs587784300, rs1928459143	RCV001257661 RCV001255348
Neurodevelopmental delay	Pathogenic	rs1928479952	RCV002274362
Nonpapillary renal cell carcinoma	Pathogenic	rs1555984947	RCV005898558
PCDH19-related epilepsy	Likely pathogenic; Pathogenic	rs2147485081	RCV001797562
PCDH19-related epilepsy syndrome	Pathogenic	rs796052839	RCV005250032
PCDH19-related epilespy	Likely pathogenic	rs2147542709	RCV001822990
Refractory epilepsy with Lennox Gastaut syndrome	Likely pathogenic	rs1928383077	RCV001199412
See cases	Likely pathogenic	rs2520986490	RCV004584546
Seizure	Pathogenic; Likely pathogenic	rs1928409516, rs796052802, rs762069884, rs2520978436, rs2520982829, rs2520988188, rs1569315876, rs796052796, rs772837341, rs758946412, rs1060502176, rs1924619294	RCV001328533 RCV005241240 RCV003384296 RCV004547422 RCV004547424 RCV004547425 RCV004556147 RCV005624406 RCV005624413 RCV005624423 RCV005624428 RCV001201165

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal cerebral morphology	Uncertain significance	rs1928381502, rs1928219474	RCV002275356 RCV002276345
Autism spectrum disorder	Likely benign	rs2520981398	RCV003128031
Developmental and epileptic encephalopathy, 1	Uncertain significance	rs2520985275, rs763059359	RCV002284150 RCV005863033
Familial GGE	Conflicting classifications of pathogenicity	rs200126728	RCV001199417
Intractable status epilepticus	Uncertain significance	rs1569315243	RCV000678824
Lung cancer	Uncertain significance	rs763006186	RCV005934744
Neurodevelopmental disorder with epilepsy	Conflicting classifications of pathogenicity; Uncertain significance	rs201671718, rs796052790	RCV001199413 RCV001199411
Non-lesional parietal lobe epilepsy	Uncertain significance	rs1928426496	RCV001199415
PCDH19-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs370150093, rs199628956, rs193148631, rs201713027, rs141816797, rs760947009, rs189342249, rs748581653, rs780704524, rs200728466, rs886043091, rs1345855480, rs2520447081, rs188745136, rs2520977555 View all (12 more)	RCV003395345 RCV003905212 RCV003935201 RCV003907550 RCV004752781 RCV003947578 RCV003947577 RCV003927743 RCV003955125 RCV003937663 RCV003947897 RCV003427823 RCV004731555 RCV003894456 RCV003949468 RCV003912746 RCV003942341 RCV003900023 RCV003960319 RCV003892372 RCV003892730 RCV004753042 RCV003908156 RCV003945795 RCV003393832 RCV003952500 RCV003925049
Periventricular nodular heterotopia and epilepsy	Uncertain significance	rs1928472700	RCV001199410
Self-limited epilepsy with centrotemporal spikes	Benign; Likely benign	rs191333060	RCV000656077
sporadic NAFE	Conflicting classifications of pathogenicity	rs201764553, rs201671718	RCV001199416 RCV001199414
Thyroid cancer, nonmedullary, 1	Benign	rs199628956	RCV005886751

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Febrile Encephalopathy	Associate	19214208, 21777234, 33399642
Alcohol Related Disorders	Associate	28669061
Aphasia	Associate	31205075
Autism Spectrum Disorder	Associate	29377098, 32366910, 32722525, 36980870
Autistic Disorder	Associate	21480887, 22946748, 28334947, 29377098, 30653859, 32314541, 33399642, 36980870, 38238304, 39457436
Blast Crisis	Associate	33557955
Body Dysmorphic Disorders	Associate	26993267
Brain Diseases	Associate	19214208, 21480887, 25818041, 29190809, 29866057, 33087045, 38238304, 39457436
Cerebral Palsy	Associate	33557955
Chronobiology Disorders	Associate	29377098
Cluster Headache	Associate	31714027, 32366910
Cognition Disorders	Associate	21480887, 21777234, 26765483, 28334947, 29064093, 33010346, 33399642
Developmental Disabilities	Associate	26993267, 30653859, 39187419, 39457436
Disease	Associate	38238304
Drug Resistant Epilepsy	Associate	21777234, 37956604
Dystonia	Associate	33557955
Epilepsies Myoclonic	Associate	19214208, 21053371, 25218114, 26820223, 39187419
Epilepsies Partial	Associate	27029629, 37390664
Epilepsy	Associate	21053371, 21480887, 21777234, 25218114, 26765483, 26802095, 26820223, 28334947, 28669061, 28837158, 29056246, 29064093, 29190809, 29377098, 29866057 View all (23 more)
Epilepsy Absence	Associate	19214208
Epilepsy Benign Neonatal	Associate	29064093
Epilepsy Female Restricted with Mental Retardation	Associate	22932693, 22946748, 26820223, 29377098, 30572518, 32314541, 36980870, 39187419
Epilepsy Partial Motor	Associate	39187419
Epileptic Encephalopathy Early Infantile 3	Associate	33557955, 37482918, 37867425, 38238304
Epileptic Syndromes	Associate	21053371, 25218114, 26765483, 36870093, 38238304
Febrile Seizures Associated with Afebrile Seizures	Associate	21480887
Fever	Associate	21053371, 21480887, 21777234, 28669061, 29064093, 29377098, 29866057, 31714027, 33399642, 37956604
Focal Cortical Dysplasia	Associate	35441233
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	21053371
Heredodegenerative Disorders Nervous System	Associate	26450854
Hippocampal Sclerosis	Associate	35441233, 39187419
Hyperkinesis	Associate	38238304
Infections	Associate	21777234
Intellectual Disability	Associate	21053371, 22946748, 25218114, 26820223, 28669061, 29866057, 30572518, 30653859, 31714027, 32314541, 33087045, 33262389, 33399642, 35715422, 36980870, 38238304, 39187419 View all (2 more)
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	34226156
Language Development Disorders	Associate	19214208
Leukoencephalopathies	Associate	30653859, 39187419
Lymphoproliferative Syndrome X Linked 2	Associate	30653859
Malformations of Cortical Development	Associate	29064093
Mental Disorders	Associate	33399642, 35978409, 38238304
Mental Retardation X Linked with Epilepsy	Associate	35978409
Motor Neuron Disease	Associate	33557955
Movement Disorders	Associate	32314541
Myoclonus	Associate	19214208
Myopathies Structural Congenital	Associate	29064093
Neoplasms	Associate	28334947
Nervous System Diseases	Associate	29866057
Neurodegenerative Diseases	Associate	28837158
Obsessive Compulsive Disorder	Associate	38238304
Pediatric acute onset neuropsychiatric syndrome	Associate	32366910
Post Acute COVID 19 Syndrome	Associate	29866057, 34226156, 39187419
Posterior Leukoencephalopathy Syndrome	Associate	30653859
Psychotic Disorders	Associate	31714027, 39950246
REM Sleep Behavior Disorder	Associate	29377098
Seizures	Associate	19214208, 21053371, 21480887, 22932693, 26765483, 26820223, 28669061, 29064093, 29377098, 29866057, 30572518, 32314541, 32366910, 32682289, 33087045 View all (9 more)
Seizures Febrile	Associate	33399642
Spasms Infantile	Associate	35715422
Status Epilepticus	Associate	33399642, 35914944
Voice Disorders	Associate	19214208, 28669061, 29866057

PCDH19 (protocadherin 19)