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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 ha... See more...
Aliases for PCDH15 Gene
Aliases for PCDH15 Gene
External Ids for PCDH15 Gene
- HGNC: 14674
- Entrez Gene: 65217
- Ensembl: ENSG00000150275
- OMIM: 605514
- UniProtKB: Q96QU1
Previous HGNC Symbols for PCDH15 Gene
- USH1F
- DFNB23
Previous GeneCards Identifiers for PCDH15 Gene
- GC10M054397
- GC10M054586
- GC10M055473
- GC10M054925
- GC10M055250
- GC10M049544
Summaries for PCDH15 Gene
-
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]
GeneCards Summary for PCDH15 Gene
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 PCDHA2.
UniProtKB/Swiss-Prot Summary for PCDH15 Gene
-
Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
Additional gene information for PCDH15 Gene
- Monarch Initiative
- Search for PCDH15 at DataMed
- Search for PCDH15 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCDH15 Gene
Genomics for PCDH15 Gene
GeneHancer (GH) Regulatory Elements for PCDH15 Gene
Promoters and enhancers for PCDH15 Gene
| 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 | 500.7 | 0.0 | -47 | 1.3 | ZBTB26 MXI1 ZNF341 SMC3 ZBTB17 CTCF ZNF335 ZNF189 TRIM28 TAF1 | PCDH15 piR-61945-048 | |
| GH10J054801 | Promoter | 1 | EPDnew Ensembl | 500 | +827.3 | 827316 | 1.3 | EP300 CTCF SMC3 MYC RAD21 SMARCA4 TRIM28 MAX | PCDH15 piR-31199-032 ENSG00000236958 | |
| GH10J054739 | Promoter | 0.3 | EPDnew | 500 | +888.7 | 888698 | 0.1 | PCDH15 piR-59136-007 piR-31199-032 | ||
| GH10J055629 | Promoter/Enhancer | 1.1 | ENCODE CraniofacialAtlas | 0.7 | -2.7 | -2656 | 2.4 | CTCF ZIC2 ZNF423 ZBTB26 TRIM28 CTBP1 MXI1 ZNF341 POLR2A OSR2 | PCDH15 piR-61945-048 | |
| GH10J055602 | Promoter | 0.6 | CraniofacialAtlas | 0.3 | +26.1 | 26101 | 0.4 | EP300 ZNF341 SMC3 | piR-33432-052 piR-55361-054 RF02541-004 PCDH15 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PCDH15 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCDH15
- Top Transcription factor binding sites by QIAGEN in the PCDH15 gene promoter:
-
- AML1a
- C/EBPbeta
- Evi-1
- FOXD3
- GATA-1
- IRF-2
- POU2F1
- POU2F1a
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for PCDH15 Gene
Genomic Locations for PCDH15 Gene
- chr10:53,802,771-55,627,942
- (GRCh38/hg38)
- Size:
- 1,825,172 bases
- Orientation:
- Minus strand
- chr10:55,562,531-57,387,702
- (GRCh37/hg19)
- Size:
- 1,825,172 bases
- Orientation:
- Minus strand
Genomic View for PCDH15 Gene
Genes around PCDH15 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q21.1 by HGNC
- 10q21.1 by Entrez Gene
- 10q21.1 by Ensembl
PCDH15 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PCDH15 Gene
Proteins for PCDH15 Gene
-
Protein details for PCDH15 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96QU1-PCD15_HUMAN
- Recommended name:
- Protocadherin-15
- Protein Accession:
- Q96QU1
- A6NL19
- C6ZEF5
- C6ZEF6
- C6ZEF7
- Q5VY38
- Q5VY39
- Q6TRH8
- Q8NDB9
- Q96QT8
Protein attributes for PCDH15 Gene
- Size:
- 1955 amino acids
- Molecular mass:
- 216069 Da
- Quaternary structure:
-
- Antiparallel heterodimer with CDH23. Found in a complex with TMIE and LHFPL5. Interacts with LHFPL5/TMHS; this interaction is required for efficient localization to hair bundles. Interacts with MYO7A. Interacts with USH1G; this interaction may recruit USH1G to the plasma membrane. Interacts with TOMT. Isoforms CD1 and CD3 interact with TMC1 (via N-terminus) and TMC2 (via N-terminus).
- SequenceCaution:
-
- Sequence=ACF76477.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Probable cloning artifact.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for PCDH15 Gene
Protein Expression for PCDH15 Gene
Post-translational modifications for PCDH15 Gene
Other Protein References for PCDH15 Gene
- ENSEMBL proteins:
-
- ENSP00000484454
- ENSP00000481211
- ENSP00000478551
- ENSP00000495195
- ENSP00000495930
- ENSP00000412531
- ENSP00000378818
- ENSP00000480780
- ENSP00000483745
- ENSP00000363076
- ENSP00000378829
- ENSP00000378826
- ENSP00000378827
- ENSP00000378820
- ENSP00000378821
- ENSP00000484703
- ENSP00000482794
- ENSP00000412320
- ENSP00000412628
- ENSP00000482921
- ENSP00000482329
- ENSP00000322604
- ENSP00000363067
- ENSP00000363066
- ENSP00000363068
- ENSP00000378832
- ENSP00000378833
- ENSP00000386693
- ENSP00000482780
- ENSP00000478076
- ENSP00000354950
- ENSP00000410304
- ENSP00000478512
- ENSP00000394465
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents PCDH15 Antibody / Protocadherin 15
- Creative Biolabs Recombinant Anti-Human PCDH15 Antibody
- Creative Diagnostics Anti-PCDH15 polyclonal antibody
- Novus Biologicals Antibodies for PCDH15
-
Abcam antibodies for PCDH15
- Invitrogen Antibodies for PCDH15 (AFLGC-PCDH15)
-
Boster Bio Antibodies for PCDH15
-
Santa Cruz Biotechnology (SCBT) Antibodies for PCDH15
Protein Products
-
OriGene Purified Proteins for PCDH15
- Search Origene for MassSpec and Protein Over-expression Lysates for PCDH15
- Origene Custom Protein Services for PCDH15
- Novus Biologicals lysates for PCDH15
Assay Products
- G Biosciences Immunotag™ Human PCDH15 (Protocadherin 15) ELISA
- Aviva Systems Biology PCDH15 ELISA Kit (Human) (OKCD01801)
No data available for DME Specific Peptides for PCDH15 Gene
Domains & Families for PCDH15 Gene
Gene Families for PCDH15 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PCDH15 Gene
- Blocks:
-
- Cadherin
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PCDH15 Gene
- GenScript: Design optimal peptide antigens:
-
- Protocadherin 15 (A2A3D8_HUMAN)
- Protocadherin-15-CD2 isoform 1 (C6ZEF5_HUMAN)
- Protocadherin-15-CD2 isoform 2 (C6ZEF6_HUMAN)
- Protocadherin-15-CD3 isoform 1 (C6ZEF7_HUMAN)
- Protocadherin-15 (PCD15_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96QU1UniProtKB/Swiss-Prot:
PCD15_HUMAN :- Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23.
- Domain:
-
- Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23.
- Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Function for PCDH15 Gene
Molecular function for PCDH15 Gene
- UniProtKB/Swiss-Prot Function:
- Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
Phenotypes From GWAS Catalog for PCDH15 Gene
| 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 | -- |
Phenotypes for PCDH15 Gene
- MGI mutant phenotypes for PCDH15:
- inferred from 19 alleles
- GenomeRNAi human phenotypes for PCDH15:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PCDH15 - Select products 50% OFF >
- * PCDH15 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PCDH15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCDH15
- genomics-online: gRNA clones - Search for available PCDH15 gRNA products
- Overview of 196 available PCDH15 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCDH15
miRNA for PCDH15 Gene
- miRTarBase miRNAs that target PCDH15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCDH15
- Browse OriGene Inhibitory RNA Products For PCDH15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDH15
- genomics-online: shRNA clones - Search for available PCDH15 shRNA products
- Overview of 196 available PCDH15 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for PCDH15 - Select products 50% OFF >
- * PCDH15 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- SC209608
- SC209609
- SC209613
- SC209617
- SC209619
- SC209621
- SC209622
- SC209623
- SC209887
- MC223818
- MC223819
- MC224629
- MC224811
- MC224812
- MC224928
- MC224987
- MC225018
- MC225034
- MC225044
- MC225049
- MC225057
- MC225058
- MC225073
- RN217693
- SC305544
- SC326387
- SC326395
- SC326396
- SC326403
- SC326407
- SC326410
- SC326413
- SC326414
- SC326415
- SC326416
- SC326417
-
- MG227161
- MG227164
- MG227169
- MG227177
- MG227180
- MG227191
- MG227198
- MG227204
- MG227209
- MG227212
- MG227226
- MG227230
- MG227232
- MG227267
- MR227161
- MR227164
- MR227169
- MR227177
- MR227180
- MR227191
- MR227198
- MR227204
- MR227209
- MR227212
- MR227212L3
- MR227212L4
- MR227226
- MR227230
- MR227230L3
- MR227230L4
- MR227232
- MR227232L3
- MR227232L4
- MR227267
- RC216005
- RC226513
- RC226546
- RC226598
- RC226671
- RC226748
- RC226827
- RC226910
- RC227022
- RC227022L3
- RC227022L4
- RC227096
- RC227171
- RC227376
- RG216005
- RG226513
- RG226546
- RG226598
- RG226671
- RG226748
- RG226827
- RG226910
- RG227022
- RG227096
- RG227171
- RG227376
- RR217693
- MR227212L3V
- MR227212L4V
- MR227230L3V
- MR227230L4V
- MR227232L3V
- MR227232L4V
- RC227022L3V
- RC227022L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCDH15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCDH15
Cell Line Products
-
Horizon Cell Lines for PCDH15
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDH15 Gene
Localization for PCDH15 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PCDH15 Gene
- Cell membrane; Single-pass type I membrane protein. Note=Efficient localization to the plasma membrane requires the presence of LHFPL5. {ECO:0000250}.
- [Isoform 3]: Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCDH15 Gene
Pathways & Interactions for PCDH15 Gene
Interacting Proteins for PCDH15 Gene
GPS-Prot Interaction Network for PCDH15
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for PCDH15 Gene
Drugs & Compounds for PCDH15 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Approved | Nutra | 7884 |
Transcripts for PCDH15 Gene
mRNA/cDNA for PCDH15 Gene
- 17 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000320301 6845 bps (ENST00000320301.10)
- ENST00000361849 7017 bps (ENST00000361849.7)
- ENST00000373955 4230 bps (ENST00000373955.5)
- ENST00000373956 6931 bps (ENST00000373956.7)
- ENST00000373957 7032 bps (ENST00000373957.7)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PCDH15 - Select products 50% OFF >
- * PCDH15 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PCDH15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCDH15
- genomics-online: gRNA clones - Search for available PCDH15 gRNA products
- Overview of 196 available PCDH15 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCDH15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCDH15
- Browse OriGene Inhibitory RNA Products For PCDH15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDH15
- genomics-online: shRNA clones - Search for available PCDH15 shRNA products
- Overview of 196 available PCDH15 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for PCDH15 - Select products 50% OFF >
- * PCDH15 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- SC209608
- SC209609
- SC209613
- SC209617
- SC209619
- SC209621
- SC209622
- SC209623
- SC209887
- MC223818
- MC223819
- MC224629
- MC224811
- MC224812
- MC224928
- MC224987
- MC225018
- MC225034
- MC225044
- MC225049
- MC225057
- MC225058
- MC225073
- RN217693
- SC305544
- SC326387
- SC326395
- SC326396
- SC326403
- SC326407
- SC326410
- SC326413
- SC326414
- SC326415
- SC326416
- SC326417
-
- MG227161
- MG227164
- MG227169
- MG227177
- MG227180
- MG227191
- MG227198
- MG227204
- MG227209
- MG227212
- MG227226
- MG227230
- MG227232
- MG227267
- MR227161
- MR227164
- MR227169
- MR227177
- MR227180
- MR227191
- MR227198
- MR227204
- MR227209
- MR227212
- MR227212L3
- MR227212L4
- MR227226
- MR227230
- MR227230L3
- MR227230L4
- MR227232
- MR227232L3
- MR227232L4
- MR227267
- RC216005
- RC226513
- RC226546
- RC226598
- RC226671
- RC226748
- RC226827
- RC226910
- RC227022
- RC227022L3
- RC227022L4
- RC227096
- RC227171
- RC227376
- RG216005
- RG226513
- RG226546
- RG226598
- RG226671
- RG226748
- RG226827
- RG226910
- RG227022
- RG227096
- RG227171
- RG227376
- RR217693
- MR227212L3V
- MR227212L4V
- MR227230L3V
- MR227230L4V
- MR227232L3V
- MR227232L4V
- RC227022L3V
- RC227022L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCDH15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCDH15
| 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: |
Relevant External Links for PCDH15 Gene
- GeneLoc Exon Structure for
- PCDH15
Expression for PCDH15 Gene
mRNA differential expression in normal tissues according to GTEx for PCDH15 Gene
This gene is overexpressed in Brain - Amygdala (x6.1), Brain - Substantia nigra (x5.3), Brain - Hypothalamus (x4.9), Brain - Hippocampus (x4.8), and Brain - Anterior cingulate cortex (BA24) (x4.4).
This gene is overexpressed in Fetal Brain (32.9), Blymphocyte (8.5), and Tlymphocyte (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCDH15 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCDH15
SOURCE GeneReport for Unigene cluster for PCDH15 Gene:
Hs.280209mRNA Expression by UniProt/SwissProt for PCDH15 Gene:
Q96QU1-PCD15_HUMAN
Tissue specificity:
Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed in cytotoxic tumor-derived T- and NK-cell lines as well as biopsies of nasal NK/T-cell lymphomas. Not detected in normal or in vitro activated peripheral blood cells, CD4 or CD8 lymphocytes or NK cells. Isoform 3 is expressed in brain, heart, cerebellum and kidney. CD1 isoforms, such as isoform 1, have a limited pattern of expression and is detected in testis, retina and cochlea. CD2 isoforms, such as isoforms 4 and 5, are expressed in heart, kidney, thymus, spleen, testis, retina and cochlea. CD3 isoforms, such as isoform 6, are widely expressed.
Evidence on tissue expression from TISSUES for PCDH15 Gene
- Eye(4.4)
- Nervous system(4.3)
- Lymph node(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDH15 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- immune
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- head
- inner ear
- middle ear
- nose
- outer ear
- skull
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for PCDH15
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for PCDH15 Gene
Orthologs for PCDH15 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PCDH15 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LOC100140108 30 |
|
||
| PCDH15 31 |
|
OneToOne | |||
| oppossum (Monodelphis domestica) |
Mammalia | PCDH15 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PCDH15 31 30 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Pcdh15 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pcdh15 30 |
|
||
| chicken (Gallus gallus) |
Aves | PCDH15 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PCDH15 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pcdh15 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pcdh15b 31 30 |
|
OneToMany | |
| pcdh15a 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002310 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cad99C 31 30 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | cdh-5 30 |
|
||
| cdh-3 31 |
|
OneToOne |
- Species where no ortholog for PCDH15 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for PCDH15 Gene
- ENSEMBL:
- Gene Tree for PCDH15 (if available)
- TreeFam:
- Gene Tree for PCDH15 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PCDH15: view image
Paralogs for PCDH15 Gene
Paralogs for PCDH15 Gene
- PCDHA2 5
- PCDHA4 5
- PCDHA5 5
- PCDHA12 5
- PCDHA6 5
- PCDHA8 5
- PCDHA9 5
- PCDHA3 5
- PCDHA13 5
- PCDHA7 5
- PCDHA11 5
- PCDHA1 5
- PCDHA10 5
- PCDHAC2 5
- PCDHGB1 5
- PCDHGA9 5
- PCDHGA6 5
- PCDHGA8 5
- PCDH12 5
- PCDHGB2 5
- PCDHGB5 5
- PCDH10 5
- PCDHGA4 5
- PCDH8 5
- PCDHGA3 5
- PCDHAC1 5
- PCDH18 5
- PCDHGC4 5
- PCDHB9 5
- PCDHGA10 5
- PCDHB14 5
- PCDHGB6 5
- PCDHGB4 5
- PCDHGB3 5
- PCDHGA7 5
- PCDHGA12 5
- PCDHB2 5
- PCDHB16 5
- PCDHB11 5
- PCDHGA2 5
- PCDHGA5 5
- PCDHB4 5
- PCDH17 5
- PCDHGB7 5
- PCDHB6 5
- PCDHB12 5
- PCDHGC5 5
- PCDHGA1 5
- PCDH19 5
- PCDHB5 5
- PCDHB3 5
- PCDHB8 5
- PCDHB7 5
- PCDHGA11 5
- PCDHB15 5
- PCDHGC3 5
- PCDHB13 5
- PCDHB10 5
- PCDHB1 5
- CDH16 5
- CDHR4 5
(3) SIMAP similar genes for PCDH15 Gene using alignment to 19 proteins:
- PCD15_HUMAN
- A2A3D8_HUMAN
- A2A3D9_HUMAN
- A2A3E1_HUMAN
- A2A3E2_HUMAN
- A2A3E3_HUMAN
- A2A3E4_HUMAN
- A2A3E5_HUMAN
- A2A3E6_HUMAN
- A2A3E7_HUMAN
- A2A3E8_HUMAN
- A9Z1W1_HUMAN
- B7ZBT8_HUMAN
- C9J4F3_HUMAN
- E7EM53_HUMAN
- E7EM97_HUMAN
- E7EMG0_HUMAN
- E7EMG8_HUMAN
- F8WCD8_HUMAN
Variants for PCDH15 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCDH15 Gene
| 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 |
Residual Variation Intolerance Score:
92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
21.81;
99.34% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PCDH15 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH15 Gene
Disorders for PCDH15 Gene
(46) MalaCards diseases for PCDH15 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 23 |
|
|
| usher syndrome, type if |
|
|
| usher syndrome, type id |
|
|
| usher syndrome, type i |
|
|
| usher syndrome, type ig |
|
Search PCDH15 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PCD15_HUMAN- Usher syndrome 1F (USH1F) [MIM:602083]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269 PubMed:15660226, ECO:0000269 PubMed:22815625}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. {ECO:0000269 PubMed:15537665, ECO:0000269 PubMed:18719945}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
- Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:14570705, ECO:0000269 PubMed:18719945, ECO:0000269 PubMed:28281779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PCDH15
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PCDH15 Gene
Publications for PCDH15 Gene
- Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID: 15660226) Ouyang XM … Liu XZ (Human genetics 2005) 3 4 23 41 54
- PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. (PMID: 14570705) Ahmed ZM … Wilcox ER (Human molecular genetics 2003) 2 3 4 23 54
- Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (PMID: 11398101) Ahmed ZM … Wilcox ER (American journal of human genetics 2001) 2 3 4 23 54
- A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. (PMID: 19816713) Huertas-Vazquez A … Pajukanta P (Human genetics 2010) 3 23 41 54
- Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (PMID: 18719945) Ahmed ZM … Friedman TB (Human genetics 2008) 3 4 23 54
ExternalLinks
Products for PCDH15 Gene
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- genomics-online: cdna clones - Search for available PCDH15 CDNA products
- Overview of 196 available PCDH15 gene related products
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- Overview of 196 available PCDH15 gene related products
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- Overview of 196 available PCDH15 gene related products
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- Overview of 196 available PCDH15 gene related products
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- Boster Bio Antibodies for PCDH15
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Sources for PCDH15 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
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- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
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- (179) Signalway Antibody