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This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
PCDH15 (Protocadherin Related 15) is a Protein Coding gene. Diseases associated with PCDH15 include Deafness, Autosomal Recessive 23 and Usher Syndrome, Type If. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH10.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH10J055627 | Promoter/Enhancer | 1.3 | Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.2 | 1193 | 1.3 | PRDM10 ZNF341 RAD21 CTCF ZBTB26 ZBTB17 ZNF189 ZNF335 TRIM28 TAF1 | PCDH15 piR-55361-054 MTRNR2L5 | |
GH10J055629 | Promoter/Enhancer | 1.1 | ENCODE CraniofacialAtlas | 600.7 | -1.4 | -1416 | 2.4 | CREB1 CTCF PRDM10 RFX5 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 SCRT2 | PCDH15 piR-61945-048 ZWINT | |
GH10J054801 | Promoter | 0.9 | EPDnew Ensembl | 600 | +828.6 | 828556 | 1.3 | CTCF RAD21 TRIM28 SMARCA4 | PCDH15 piR-31199-032 ENSG00000236958 MTRNR2L5 | |
GH10J054739 | Promoter | 0.3 | EPDnew | 600 | +889.9 | 889938 | 0.1 | PCDH15 piR-59136-007 piR-31199-032 MTRNR2L5 | ||
GH10J055602 | Promoter | 0.4 | CraniofacialAtlas | 0.3 | +27.3 | 27341 | 0.4 | ZNF341 | piR-33432-052 piR-55361-054 MTRNR2L5 PCDH15 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO:0047485 | protein N-terminus binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001750 | photoreceptor outer segment | IDA | 14570705 |
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001964 | startle response | IEA | -- |
GO:0002009 | morphogenesis of an epithelium | IEA | -- |
GO:0007015 | actin filament organization | IEA | -- |
GO:0007155 | cell adhesion | IEA,IBA | 21873635 |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: |
ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||
SP2: | |||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PCDH15 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC100140108 30 |
|
||
PCDH15 31 |
|
OneToOne | |||
Oppossum (Monodelphis domestica) |
Mammalia | PCDH15 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PCDH15 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Pcdh15 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pcdh15 30 |
|
||
Chicken (Gallus gallus) |
Aves | PCDH15 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PCDH15 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pcdh15 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pcdh15b 30 31 |
|
OneToMany | |
pcdh15a 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002310 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cad99C 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | cdh-5 30 |
|
||
cdh-3 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636185 | Likely Pathogenic: Progressive cone dystrophy (without rod involvement) | 53,821,877(-) | CTG/C | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
641407 | Pathogenic: not provided | 53,840,356(-) | TG/T | FRAMESHIFT_VARIANT | |
641711 | Pathogenic: not provided | 54,195,779(-) | A/C | NONSENSE | |
650649 | Pathogenic: not provided | 54,183,558(-) | T/TG | FRAMESHIFT_VARIANT | |
650919 | Pathogenic: not provided | 53,866,698(-) | G/A | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 23 |
|
|
usher syndrome, type if |
|
|
usher syndrome, type id |
|
|
usher syndrome, type i |
|
|
usher syndrome, type ig |
|