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This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
PCDH18 (Protocadherin 18) is a Protein Coding gene. Diseases associated with PCDH18 include Patent Foramen Ovale. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH17.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J137527 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +2.1 | 2083 | 8.1 | CTCF PRDM10 PRDM1 PATZ1 ZNF341 PKNOX1 CEBPB FOXA2 ZBTB17 ZFHX2 | PCDH18 piR-50399-022 | |
GH04J137609 | Enhancer | 0.6 | ENCODE CraniofacialAtlas | 11.2 | -77.8 | -77819 | 2 | CTCF NR2F2 ETS1 RAD21 NANOG POLR2A | PCDH18 ENSG00000280352 RF00017-4415 LOC101927414 SLC7A11 | |
GH04J137614 | Enhancer | 0.4 | ENCODE | 9.5 | -82.2 | -82172 | 0.2 | FOXA1 CTBP1 FOXA2 SIX4 | PCDH18 RF00017-4415 ENSG00000280352 LOC101927414 SLC7A11 | |
GH04J137310 | Enhancer | 0.8 | Ensembl ENCODE CraniofacialAtlas | 4.5 | +221.8 | 221788 | 2.3 | JUND ZNF10 FOS POLR2A | LINC02511 PCDH18 lnc-NOCT-17 | |
GH04J137612 | Enhancer | 0.3 | CraniofacialAtlas | 9.5 | -79.8 | -79817 | 0.6 | POLR2A | PCDH18 ENSG00000280352 RF00017-4415 LOC101927414 SLC7A11 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA,IBA | 21873635 |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0007420 | brain development | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PCDH18 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PCDH18 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PCDH18 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pcdh18 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pcdh18 30 |
|
||
Dog (Canis familiaris) |
Mammalia | PCDH18 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PCDH18 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PCDH18 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PCDH18 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pcdh18 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pcdh18a 31 |
|
OneToMany | |
pcdh18b 31 |
|
OneToMany | |||
Dr.19441 30 |
|
Disorder | Aliases | PubMed IDs |
---|---|---|
patent foramen ovale |
|
|