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English
PCDH19
protein-coding gene in the species Homo sapiens
EFMR
EIEE9
protocadherin 19
DEE9
In more languages
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Statements
instance of
gene
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
subclass of
protein-coding gene
1 reference
stated in
Ensembl Release 87
Ensembl gene ID
ENSG00000165194
found in taxon
Homo sapiens
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
encodes
Protocadherin 19
1 reference
stated in
UniProt
retrieved
6 July 2017
UniProt protein ID
Q8TAB3
genetic association
epilepsy
2 references
stated in
ClinGen
retrieved
8 December 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/c00aad39-c6c4-4a46-af84-613592b166a3--2018-09-04T16:00:00
stated in
ClinGen
retrieved
26 January 2021
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c00aad39-c6c4-4a46-af84-613592b166a3-2018-09-04T160000.000Z
X-linked intellectual disability-epilepsy syndrome
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000165194/Orphanet_2076
based on heuristic
inferred from an Open Targets association score over 0.7
chromosome
human X chromosome
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
strand orientation
reverse strand
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
genomic start
100291644
chromosome
human X chromosome
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
99546642
chromosome
human X chromosome
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
genomic end
100410273
chromosome
human X chromosome
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
99665271
chromosome
human X chromosome
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
cytogenetic location
Xq22.1
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
HomoloGene ID
18916
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
ortholog
Pcdh19
found in taxon
house mouse
1 reference
stated in
HomoloGene build68
HomoloGene ID
18916
Pcdh19
found in taxon
brown rat
1 reference
stated in
HomoloGene build68
HomoloGene ID
18916
pcdh19
found in taxon
Danio rerio
1 reference
stated in
HomoloGene build68
HomoloGene ID
18916
expressed in
entorhinal cortex
series ordinal
1
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
middle temporal gyrus
series ordinal
2
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
superior frontal gyrus
series ordinal
3
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
Brodmann area 46
series ordinal
4
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
hippocampus proper
series ordinal
5
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
Brodmann area 23
series ordinal
6
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
postcentral gyrus
series ordinal
7
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
amygdala
series ordinal
8
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
hypothalamus
series ordinal
9
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
dorsolateral prefrontal cortex
series ordinal
10
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000165194
exact match
http://identifiers.org/ncbigene/57526
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Identifiers
RefSeq RNA ID
XM_011530997
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
NM_001105243
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
NM_001184880
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
NM_020766
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
Entrez Gene ID
57526
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
Ensembl gene ID
ENSG00000165194
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
Ensembl transcript ID
ENST00000464981
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
ENST00000255531
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
ENST00000373034
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
ENST00000420881
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
ENST00000636150
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000165194
Google Knowledge Graph ID
/g/11gblf2zqr
0 references
HGNC gene symbol
PCDH19
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
HGNC ID
14270
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
57526
OMIM ID
300460
1 reference
stated in
Online Mendelian Inheritance in Man
retrieved
19 August 2019
UMLS CUI
C1422530
1 reference
based on heuristic
inferred by common HGNC mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
15 June 2023
Sitelinks
Wikipedia
(2 entries)
edit
ttwiki
PCDH19
ukwiki
PCDH19
Wikibooks
(0 entries)
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Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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