PCDH19

Functionⁱ

Potential calcium-dependent cell-adhesion protein.

GO - Molecular functionⁱ

calcium ion binding Source: InterPro

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

brain development Source: InterPro
cell adhesion
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
  Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
  Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cell adhesion
Ligand	Calcium

Enzyme and pathway databases

PathwayCommonsⁱ	Q8TAB3

PathwayCommonsⁱ

Q8TAB3

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Protocadherin-19
Gene namesⁱ	Name:PCDH19 Synonyms:KIAA1313
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000165194.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:14270, PCDH19
MIMⁱ	300460, gene
neXtProtⁱ	NX_Q8TAB3

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	22 – 678	ExtracellularSequence analysisAdd BLAST	657
Transmembraneⁱ	679 – 699	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	700 – 1148	CytoplasmicSequence analysisAdd BLAST	449

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Epileptic encephalopathy, early infantile, 9 (EIEE9)12 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067472	25	L → P in EIEE9. 1 Publication	1
Natural variantⁱVAR_067473	72	V → G in EIEE9. 1 Publication	1
Natural variantⁱVAR_064840	81	L → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1569316056EnsemblClinVar.	1
Natural variantⁱVAR_064481	121	D → N in EIEE9; disease features overlapping with Dravet syndrome. 1 PublicationCorresponds to variant dbSNP:rs796052795EnsemblClinVar.	1
Natural variantⁱVAR_064841	141	A → ASEA in EIEE9.	1
Natural variantⁱVAR_064842	146	T → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052799EnsemblClinVar.	1
Natural variantⁱVAR_067474	153	A → T in EIEE9. 1 Publication	1
Natural variantⁱVAR_078722	158 – 1148	Missing in EIEE9. 1 PublicationAdd BLAST	991
Natural variantⁱVAR_067475	190	L → R in EIEE9. 1 Publication	1
Natural variantⁱVAR_067476	191	V → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs753757730EnsemblClinVar.	1
Natural variantⁱVAR_064482	199	E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_064483	203	H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication	1
Natural variantⁱVAR_064484	206	F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 PublicationCorresponds to variant dbSNP:rs746274631EnsemblClinVar.	1
Natural variantⁱVAR_064843	206	F → Y in EIEE9. 1 Publication	1
Natural variantⁱVAR_078723	230	D → N in EIEE9; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_067477	232	N → S in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs587784299EnsemblClinVar.	1
Natural variantⁱVAR_067478	234	N → S in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985475EnsemblClinVar.	1
Natural variantⁱVAR_078724	236	P → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1060502176EnsemblClinVar.	1
Natural variantⁱVAR_067479	236	P → S in EIEE9. 1 Publication	1
Natural variantⁱVAR_064844	249	E → D in EIEE9. 1 Publication	1
Natural variantⁱVAR_067480	262	A → D in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985448EnsemblClinVar.	1
Natural variantⁱVAR_064485	276	S → P in EIEE9. 1 Publication	1
Natural variantⁱVAR_064486	340	N → S in EIEE9; disease features overlapping with Dravet syndrome. 5 PublicationsCorresponds to variant dbSNP:rs796052839EnsemblClinVar.	1
Natural variantⁱVAR_064845	341	D → E in EIEE9. 1 Publication	1
Natural variantⁱVAR_067481	344	P → R in EIEE9. 1 Publication	1
Natural variantⁱVAR_067482	377	D → E in EIEE9. 1 Publication	1
Natural variantⁱVAR_064487	377	D → H in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_064488	404	T → I in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_064489	414	E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_067483	433	L → P in EIEE9. 1 Publication	1
Natural variantⁱVAR_046484	441	V → E in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs132630323EnsemblClinVar.	1
Natural variantⁱVAR_067484	513	G → R in EIEE9. 1 Publication	1
Natural variantⁱVAR_064490	543	L → P in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_046485	557	N → K in EIEE9. 2 PublicationsCorresponds to variant dbSNP:rs267606933EnsemblClinVar.	1
Natural variantⁱVAR_064846	561	P → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052819EnsemblClinVar.	1
Natural variantⁱVAR_064847	567	P → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs201989363EnsemblClinVar.	1
Natural variantⁱVAR_064848	618	D → N in EIEE9. 1 Publication	1
Natural variantⁱVAR_067485	642	V → M in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1221643775Ensembl.	1

Keywords - Diseaseⁱ

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	57526
MalaCards human disease database More...MalaCardsⁱ	PCDH19
MIMⁱ	300088, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000165194
Orphanetⁱ	33069, Dravet syndrome 101039, Female restricted epilepsy with intellectual disability
PharmGKBⁱ	PA33003

Miscellaneous databases

Pharosⁱ	Q8TAB3, Tbio

Pharosⁱ

Q8TAB3, Tbio

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB01373, Calcium

DrugBankⁱ

DB01373, Calcium

Polymorphism and mutation databases

BioMutaⁱ	PCDH19
DMDMⁱ	73620979

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 21	Sequence analysisAdd BLAST		21
ChainⁱPRO_0000004003	22 – 1148	Protocadherin-19Add BLAST		1127

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	261	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	420	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	485	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	546	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	570	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	676	N-linked (GlcNAc...) asparagineSequence analysis	1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	Q8TAB3
jPOSTⁱ	Q8TAB3
MassIVEⁱ	Q8TAB3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q8TAB3
PaxDbⁱ	Q8TAB3
PeptideAtlas More...PeptideAtlasⁱ	Q8TAB3
PRIDEⁱ	Q8TAB3
ProteomicsDBⁱ	19048 73850 [Q8TAB3-1] 73851 [Q8TAB3-2]
TopDownProteomicsⁱ	Q8TAB3-3 [Q8TAB3-3]

PTM databases

GlyGenⁱ	Q8TAB3, 6 sites
iPTMnetⁱ	Q8TAB3
PhosphoSitePlusⁱ	Q8TAB3

Expressionⁱ

Tissue specificityⁱ

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.2 Publications

Developmental stageⁱ

Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000165194, Expressed in frontal cortex and 148 other tissues
ExpressionAtlasⁱ	Q8TAB3, baseline and differential
Genevisibleⁱ	Q8TAB3, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000165194, Tissue enriched (brain)

HPAⁱ

ENSG00000165194, Tissue enriched (brain)

Interactionⁱ

Protein-protein interaction databases

BioGRIDⁱ	121586, 3 interactors
IntActⁱ	Q8TAB3, 4 interactors
STRINGⁱ	9606.ENSP00000362125

Miscellaneous databases

RNActⁱ	Q8TAB3, protein

RNActⁱ

Q8TAB3, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	23 – 32	Combined sources	10
Beta strandⁱ	38 – 40	Combined sources	3
Helixⁱ	42 – 49	Combined sources	8
Beta strandⁱ	61 – 67	Combined sources	7
Turnⁱ	69 – 71	Combined sources	3
Beta strandⁱ	72 – 74	Combined sources	3
Turnⁱ	76 – 78	Combined sources	3
Beta strandⁱ	81 – 85	Combined sources	5
Helixⁱ	89 – 92	Combined sources	4
Beta strandⁱ	100 – 107	Combined sources	8
Beta strandⁱ	112 – 120	Combined sources	9
Beta strandⁱ	130 – 139	Combined sources	10
Beta strandⁱ	147 – 149	Combined sources	3
Helixⁱ	159 – 161	Combined sources	3
Beta strandⁱ	162 – 168	Combined sources	7
Beta strandⁱ	172 – 184	Combined sources	13
Beta strandⁱ	186 – 192	Combined sources	7
Turnⁱ	198 – 200	Combined sources	3
Beta strandⁱ	203 – 212	Combined sources	10
Beta strandⁱ	219 – 229	Combined sources	11
Beta strandⁱ	237 – 239	Combined sources	3
Beta strandⁱ	241 – 248	Combined sources	8
Beta strandⁱ	253 – 259	Combined sources	7
Helixⁱ	268 – 271	Combined sources	4
Beta strandⁱ	273 – 277	Combined sources	5
Helixⁱ	284 – 288	Combined sources	5
Beta strandⁱ	289 – 291	Combined sources	3
Turnⁱ	293 – 295	Combined sources	3
Beta strandⁱ	297 – 300	Combined sources	4
Turnⁱ	306 – 308	Combined sources	3
Beta strandⁱ	310 – 324	Combined sources	15
Beta strandⁱ	328 – 337	Combined sources	10
Beta strandⁱ	345 – 349	Combined sources	5
Beta strandⁱ	356 – 361	Combined sources	6
Beta strandⁱ	367 – 374	Combined sources	8
Helixⁱ	379 – 381	Combined sources	3
Beta strandⁱ	384 – 388	Combined sources	5
Beta strandⁱ	393 – 399	Combined sources	7
Beta strandⁱ	402 – 407	Combined sources	6
Turnⁱ	413 – 415	Combined sources	3
Beta strandⁱ	417 – 431	Combined sources	15
Beta strandⁱ	434 – 445	Combined sources	12

Show more details

3D structure databases

SMRⁱ	Q8TAB3
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	22 – 129	Cadherin 1PROSITE-ProRule annotationAdd BLAST	108
Domainⁱ	130 – 238	Cadherin 2PROSITE-ProRule annotationAdd BLAST	109
Domainⁱ	239 – 346	Cadherin 3PROSITE-ProRule annotationAdd BLAST	108
Domainⁱ	350 – 453	Cadherin 4PROSITE-ProRule annotationAdd BLAST	104
Domainⁱ	454 – 563	Cadherin 5PROSITE-ProRule annotationAdd BLAST	110
Domainⁱ	569 – 672	Cadherin 6PROSITE-ProRule annotationAdd BLAST	104

Keywords - Domainⁱ

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3594, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000159162
HOGENOMⁱ	CLU_006480_1_1_1
InParanoidⁱ	Q8TAB3
KEGG Orthology (KO) More...KOⁱ	K16499
OMAⁱ	NAGSNHI
Database of Orthologous Groups More...OrthoDBⁱ	64478at2759
PhylomeDBⁱ	Q8TAB3
TreeFamⁱ	TF352008

Family and domain databases

InterProⁱ	View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR013164, Cadherin_N IPR030716, Protocadherin-19
PANTHERⁱ	PTHR24028:SF40, PTHR24028:SF40, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00028, Cadherin, 5 hits PF08266, Cadherin_2, 1 hit
PRINTSⁱ	PR00205, CADHERIN
SMARTⁱ	View protein in SMART SM00112, CA, 6 hits
SUPFAMⁱ	SSF49313, SSF49313, 5 hits
PROSITEⁱ	View protein in PROSITE PS00232, CADHERIN_1, 5 hits PS50268, CADHERIN_2, 6 hits

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q8TAB3-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG 
        60         70         80         90        100
FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI 
       110        120        130        140        150
ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL 
       160        170        180        190        200
DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET 
       210        220        230        240        250
QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN 
       260        270        280        290        300
SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV 
       310        320        330        340        350
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS 
       360        370        380        390        400
VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE 
       410        420        430        440        450
SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH 
       460        470        480        490        500
PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM 
       510        520        530        540        550
PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR 
       560        570        580        590        600
VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN 
       610        620        630        640        650
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT 
       660        670        680        690        700
SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA 
       710        720        730        740        750
IKCKRDNKEI RTYNCSNCLT ITCLLGCFIK GQNSKCLHCI SVSPISEEQD 
       760        770        780        790        800
KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK ISKNDIRLVP RDVEETDKMN 
       810        820        830        840        850
VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT RNTSANHIYH 
       860        870        880        890        900
HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE 
       910        920        930        940        950
GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD 
       960        970        980        990       1000
QNEGFHCREE CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA 
      1010       1020       1030       1040       1050
DVEAYDDCGP TKRTFATFGK DVSDHPAEER PTLKGKRTVD VTICSPKVNS 
      1060       1070       1080       1090       1100
VIREAGNGCE AISPVTSPLH LKSSLPTKPS VSYTIALAPP ARDLEQYVNN 
      1110       1120       1130       1140 
VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV KRLKDIVL

Length:1,148

Mass (Da):126,253

Last modified:August 16, 2005 - v3

Checksum:ⁱAF8721355A33C1C2

GO

Isoform 2 (identifier: Q8TAB3-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
716-762: Missing.

« Hide

        10         20         30         40         50
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG 
        60         70         80         90        100
FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI 
       110        120        130        140        150
ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL 
       160        170        180        190        200
DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET 
       210        220        230        240        250
QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN 
       260        270        280        290        300
SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV 
       310        320        330        340        350
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS 
       360        370        380        390        400
VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE 
       410        420        430        440        450
SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH 
       460        470        480        490        500
PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM 
       510        520        530        540        550
PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR 
       560        570        580        590        600
VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN 
       610        620        630        640        650
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT 
       660        670        680        690        700
SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA 
       710        720        730        740        750
IKCKRDNKEI RTYNCRIAEY SYGHQKKSSK KKKISKNDIR LVPRDVEETD 
       760        770        780        790        800
KMNVVSCSSL TSSLNYFDYH QQTLPLGCRR SESTFLNVEN QNTRNTSANH 
       810        820        830        840        850
IYHHSFNSQG PQQPDLIING VPLPETENYS FDSNYVNSRA HLIKSSSTFK 
       860        870        880        890        900
DLEGNSLKDS GHEESDQTDS EHDVQRSLYC DTAVNDVLNT SVTSMGSQMP 
       910        920        930        940        950
DHDQNEGFHC REECRILGHS DRCWMPRNPM PIRSKSPEHV RNIIALSIEA 
       960        970        980        990       1000
TAADVEAYDD CGPTKRTFAT FGKDVSDHPA EERPTLKGKR TVDVTICSPK 
      1010       1020       1030       1040       1050
VNSVIREAGN GCEAISPVTS PLHLKSSLPT KPSVSYTIAL APPARDLEQY 
      1060       1070       1080       1090       1100
VNNVNNGPTR PSEAEPRGAD SEKVMHEVSP ILKEGRNKES PGVKRLKDIV 

L

Show »

Length:1,101

Mass (Da):121,101

Checksum:ⁱ7457D37FD53992B2

GO

Isoform 3 (identifier: Q8TAB3-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
716-762: Missing.
892-892: Missing.

« Hide

        10         20         30         40         50
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG 
        60         70         80         90        100
FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI 
       110        120        130        140        150
ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL 
       160        170        180        190        200
DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET 
       210        220        230        240        250
QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN 
       260        270        280        290        300
SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV 
       310        320        330        340        350
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS 
       360        370        380        390        400
VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE 
       410        420        430        440        450
SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH 
       460        470        480        490        500
PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM 
       510        520        530        540        550
PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR 
       560        570        580        590        600
VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN 
       610        620        630        640        650
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT 
       660        670        680        690        700
SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA 
       710        720        730        740        750
IKCKRDNKEI RTYNCRIAEY SYGHQKKSSK KKKISKNDIR LVPRDVEETD 
       760        770        780        790        800
KMNVVSCSSL TSSLNYFDYH QQTLPLGCRR SESTFLNVEN QNTRNTSANH 
       810        820        830        840        850
IYHHSFNSQG PQQPDLIING VPLPETENYS FDSNYVNSRA HLIKSSTFKD 
       860        870        880        890        900
LEGNSLKDSG HEESDQTDSE HDVQRSLYCD TAVNDVLNTS VTSMGSQMPD 
       910        920        930        940        950
HDQNEGFHCR EECRILGHSD RCWMPRNPMP IRSKSPEHVR NIIALSIEAT 
       960        970        980        990       1000
AADVEAYDDC GPTKRTFATF GKDVSDHPAE ERPTLKGKRT VDVTICSPKV 
      1010       1020       1030       1040       1050
NSVIREAGNG CEAISPVTSP LHLKSSLPTK PSVSYTIALA PPARDLEQYV 
      1060       1070       1080       1090       1100
NNVNNGPTRP SEAEPRGADS EKVMHEVSPI LKEGRNKESP GVKRLKDIVL

Show »

Length:1,100

Mass (Da):121,014

Checksum:ⁱA7EAAFE2004383D7

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A1B0GVC8	A0A1B0GVC8_HUMAN	Protocadherin-19 Protocadherin-19	PCDH19	53	Annotation score:
A0A1Y8EN23	A0A1Y8EN23_HUMAN	Protocadherin-19 Protocadherin-19	PCDH19	7	Annotation score:

Sequence cautionⁱ

The sequence CAH18133 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	868	V → A in CAH18133 (PubMed:17974005).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067472	25	L → P in EIEE9. 1 Publication	1
Natural variantⁱVAR_067473	72	V → G in EIEE9. 1 Publication	1
Natural variantⁱVAR_064840	81	L → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1569316056EnsemblClinVar.	1
Natural variantⁱVAR_064481	121	D → N in EIEE9; disease features overlapping with Dravet syndrome. 1 PublicationCorresponds to variant dbSNP:rs796052795EnsemblClinVar.	1
Natural variantⁱVAR_064841	141	A → ASEA in EIEE9.	1
Natural variantⁱVAR_064842	146	T → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052799EnsemblClinVar.	1
Natural variantⁱVAR_067474	153	A → T in EIEE9. 1 Publication	1
Natural variantⁱVAR_078722	158 – 1148	Missing in EIEE9. 1 PublicationAdd BLAST	991
Natural variantⁱVAR_067475	190	L → R in EIEE9. 1 Publication	1
Natural variantⁱVAR_067476	191	V → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs753757730EnsemblClinVar.	1
Natural variantⁱVAR_064482	199	E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_064483	203	H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication	1
Natural variantⁱVAR_064484	206	F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 PublicationCorresponds to variant dbSNP:rs746274631EnsemblClinVar.	1
Natural variantⁱVAR_064843	206	F → Y in EIEE9. 1 Publication	1
Natural variantⁱVAR_078723	230	D → N in EIEE9; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_067477	232	N → S in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs587784299EnsemblClinVar.	1
Natural variantⁱVAR_067478	234	N → S in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985475EnsemblClinVar.	1
Natural variantⁱVAR_078724	236	P → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1060502176EnsemblClinVar.	1
Natural variantⁱVAR_067479	236	P → S in EIEE9. 1 Publication	1
Natural variantⁱVAR_064844	249	E → D in EIEE9. 1 Publication	1
Natural variantⁱVAR_067480	262	A → D in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985448EnsemblClinVar.	1
Natural variantⁱVAR_064485	276	S → P in EIEE9. 1 Publication	1
Natural variantⁱVAR_064486	340	N → S in EIEE9; disease features overlapping with Dravet syndrome. 5 PublicationsCorresponds to variant dbSNP:rs796052839EnsemblClinVar.	1
Natural variantⁱVAR_064845	341	D → E in EIEE9. 1 Publication	1
Natural variantⁱVAR_067481	344	P → R in EIEE9. 1 Publication	1
Natural variantⁱVAR_067482	377	D → E in EIEE9. 1 Publication	1
Natural variantⁱVAR_064487	377	D → H in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_064488	404	T → I in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_064489	414	E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_067483	433	L → P in EIEE9. 1 Publication	1
Natural variantⁱVAR_046484	441	V → E in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs132630323EnsemblClinVar.	1
Natural variantⁱVAR_078227	447	N → H Probable disease-associated variant found in a patient with drug-resistant epilepsy. 1 Publication	1
Natural variantⁱVAR_067484	513	G → R in EIEE9. 1 Publication	1
Natural variantⁱVAR_064490	543	L → P in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication	1
Natural variantⁱVAR_046485	557	N → K in EIEE9. 2 PublicationsCorresponds to variant dbSNP:rs267606933EnsemblClinVar.	1
Natural variantⁱVAR_064846	561	P → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052819EnsemblClinVar.	1
Natural variantⁱVAR_064847	567	P → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs201989363EnsemblClinVar.	1
Natural variantⁱVAR_064848	618	D → N in EIEE9. 1 Publication	1
Natural variantⁱVAR_067485	642	V → M in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs1221643775Ensembl.	1
Natural variantⁱVAR_064491	958	R → Q1 PublicationCorresponds to variant dbSNP:rs748581653EnsemblClinVar.	1
Natural variantⁱVAR_067486	980	R → C1 PublicationCorresponds to variant dbSNP:rs3764758EnsemblClinVar.	1
Natural variantⁱVAR_067487	1094	L → V1 PublicationCorresponds to variant dbSNP:rs184545774EnsemblClinVar.	1
Natural variantⁱVAR_064492	1107	R → G2 PublicationsCorresponds to variant dbSNP:rs191333060EnsemblClinVar.	1
Natural variantⁱVAR_067488	1107	R → H1 PublicationCorresponds to variant dbSNP:rs200021840EnsemblClinVar.	1
Natural variantⁱVAR_067489	1134	N → H2 PublicationsCorresponds to variant dbSNP:rs141816797EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_015081	716 – 762	Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST		47
Alternative sequenceⁱVSP_054046	892	Missing in isoform 3. Curated		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	EF676096 mRNA Translation: ABX58058.1 AL355593 Genomic DNA No translation available. CR749278 mRNA Translation: CAH18133.1 Different initiation. AB037734 mRNA Translation: BAA92551.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS43976.1 [Q8TAB3-2] CCDS48141.1 [Q8TAB3-3] CCDS55462.1 [Q8TAB3-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001098713.1, NM_001105243.1 [Q8TAB3-2] NP_001171809.1, NM_001184880.1 [Q8TAB3-1] NP_065817.2, NM_020766.2 [Q8TAB3-3]

Genome annotation databases

Ensemblⁱ	ENST00000255531; ENSP00000255531; ENSG00000165194 [Q8TAB3-2] ENST00000373034; ENSP00000362125; ENSG00000165194 [Q8TAB3-1] ENST00000420881; ENSP00000400327; ENSG00000165194 [Q8TAB3-3]
GeneIDⁱ	57526
KEGGⁱ	hsa:57526
UCSC genome browser More...UCSCⁱ	uc004efw.5, human [Q8TAB3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8TAB3	Uncharacterized protein		PANPA		1148	UniRef100_Q8TAB3
Protocadherin-19 isoform c (Fragment)		MACMU		169
Q8TAB3-2	Uncharacterized protein		PANPA		1101	UniRef100_A0A2R9BTF5

Protein	Similar proteins		Species	Score	Length	Source
Q8TAB3	Protocadherin-19		MOUSE		1145	UniRef90_Q8TAB3
Uncharacterized protein		PANPA		1148
Protocadherin-19 isoform c (Fragment)		MACMU		169
Protocadherin-19		PTEAL		1195
PCDH19 isoform 2		PANTR		1148
+311
Q8TAB3-2	Uncharacterized protein		PANPA		1101	UniRef90_A0A2R9BTF5
PCDH19 protein		HUMAN		602
PCDH19 isoform 2		PONAB		1101

Protein	Similar proteins		Species	Score	Length	Source
Q8TAB3	Protocadherin-19		MOUSE		1145	UniRef50_Q8TAB3
Uncharacterized protein		PANPA		1148
Protocadherin-19 isoform c (Fragment)		MACMU		169
Protocadherin-19		PTEAL		1195
Uncharacterized protein		PAPAN		1148
+606

Cross-referencesⁱ

Web resourcesⁱ

X-chromosome gene database Protocadherin 19 (PCDH19)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	EF676096 mRNA Translation: ABX58058.1 AL355593 Genomic DNA No translation available. CR749278 mRNA Translation: CAH18133.1 Different initiation. AB037734 mRNA Translation: BAA92551.1
CCDSⁱ	CCDS43976.1 [Q8TAB3-2] CCDS48141.1 [Q8TAB3-3] CCDS55462.1 [Q8TAB3-1]
RefSeqⁱ	NP_001098713.1, NM_001105243.1 [Q8TAB3-2] NP_001171809.1, NM_001184880.1 [Q8TAB3-1] NP_065817.2, NM_020766.2 [Q8TAB3-3]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	6VFU	X-ray	3.50	A/B/C	22-445	[»]
SMRⁱ	Q8TAB3
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	121586, 3 interactors
IntActⁱ	Q8TAB3, 4 interactors
STRINGⁱ	9606.ENSP00000362125

Chemistry databases

DrugBankⁱ	DB01373, Calcium

DrugBankⁱ

DB01373, Calcium

PTM databases

GlyGenⁱ	Q8TAB3, 6 sites
iPTMnetⁱ	Q8TAB3
PhosphoSitePlusⁱ	Q8TAB3

Polymorphism and mutation databases

BioMutaⁱ	PCDH19
DMDMⁱ	73620979

Proteomic databases

EPDⁱ	Q8TAB3
jPOSTⁱ	Q8TAB3
MassIVEⁱ	Q8TAB3
MaxQBⁱ	Q8TAB3
PaxDbⁱ	Q8TAB3
PeptideAtlasⁱ	Q8TAB3
PRIDEⁱ	Q8TAB3
ProteomicsDBⁱ	19048 73850 [Q8TAB3-1] 73851 [Q8TAB3-2]
TopDownProteomicsⁱ	Q8TAB3-3 [Q8TAB3-3]

Protocols and materials databases

Antibodypediaⁱ	429, 43 antibodies

Antibodypediaⁱ

429, 43 antibodies

Genome annotation databases

Ensemblⁱ	ENST00000255531; ENSP00000255531; ENSG00000165194 [Q8TAB3-2] ENST00000373034; ENSP00000362125; ENSG00000165194 [Q8TAB3-1] ENST00000420881; ENSP00000400327; ENSG00000165194 [Q8TAB3-3]
GeneIDⁱ	57526
KEGGⁱ	hsa:57526
UCSCⁱ	uc004efw.5, human [Q8TAB3-1]

Organism-specific databases

CTDⁱ	57526
DisGeNETⁱ	57526
EuPathDBⁱ	HostDB:ENSG00000165194.14
GeneCardsⁱ	PCDH19
HGNCⁱ	HGNC:14270, PCDH19
HPAⁱ	ENSG00000165194, Tissue enriched (brain)
MalaCardsⁱ	PCDH19
MIMⁱ	300088, phenotype 300460, gene
neXtProtⁱ	NX_Q8TAB3
OpenTargetsⁱ	ENSG00000165194
Orphanetⁱ	33069, Dravet syndrome 101039, Female restricted epilepsy with intellectual disability
PharmGKBⁱ	PA33003
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3594, Eukaryota
GeneTreeⁱ	ENSGT00940000159162
HOGENOMⁱ	CLU_006480_1_1_1
InParanoidⁱ	Q8TAB3
KOⁱ	K16499
OMAⁱ	NAGSNHI
OrthoDBⁱ	64478at2759
PhylomeDBⁱ	Q8TAB3
TreeFamⁱ	TF352008

Enzyme and pathway databases

PathwayCommonsⁱ	Q8TAB3

PathwayCommonsⁱ

Q8TAB3

Miscellaneous databases

BioGRID-ORCSⁱ	57526, 2 hits in 491 CRISPR screens
ChiTaRSⁱ	PCDH19, human
GenomeRNAiⁱ	57526
Pharosⁱ	Q8TAB3, Tbio
Protein Ontology More...PROⁱ	PR:Q8TAB3
RNActⁱ	Q8TAB3, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000165194, Expressed in frontal cortex and 148 other tissues
ExpressionAtlasⁱ	Q8TAB3, baseline and differential
Genevisibleⁱ	Q8TAB3, HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR013164, Cadherin_N IPR030716, Protocadherin-19
PANTHERⁱ	PTHR24028:SF40, PTHR24028:SF40, 1 hit
Pfamⁱ	View protein in Pfam PF00028, Cadherin, 5 hits PF08266, Cadherin_2, 1 hit
PRINTSⁱ	PR00205, CADHERIN
SMARTⁱ	View protein in SMART SM00112, CA, 6 hits
SUPFAMⁱ	SSF49313, SSF49313, 5 hits
PROSITEⁱ	View protein in PROSITE PS00232, CADHERIN_1, 5 hits PS50268, CADHERIN_2, 6 hits
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PCD19_HUMAN
Accessionⁱ	Q8TAB3Primary (citable) accession number: Q8TAB3 Secondary accession number(s): B0LDS4 , E9PAM6, Q5JTG1, Q5JTG2, Q68DT7, Q9P2N3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 16, 2004
	Last sequence update:	August 16, 2005
	Last modified:	October 7, 2020
	This is version 167 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations

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UniProtKB - Q8TAB3 (PCD19_HUMAN)

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Protocadherin-19

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

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Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

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<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

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<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Keywords - Coding sequence diversityi

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Sequence databases

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Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ