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 PCDHA8.
UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J054801 | Promoter | 0.7 | EPDnew | 650 | +826.7 | 826720 | 0.1 | CTCF RAD21 MIXL1 | PCDH15 GC10P054784 GC10P054817 | |
| GH10J055628 | Enhancer | 0.6 | ENCODE | 650.7 | -0.5 | -474 | 0.2 | CTCF L3MBTL2 ZNF189 ZNF335 GLIS2 ZNF341 PRDM10 ZBTB17 | PCDH15 GAPDHP21 | |
| GH10J055629 | Enhancer | 0.5 | ENCODE | 650.7 | -1.8 | -1830 | 0.8 | CTCF RCOR1 RAD21 EZH2 | PCDH15 GAPDHP21 | |
| GH10J054739 | Promoter | 0.5 | EPDnew | 650 | +888.7 | 888698 | 0.1 | PCDH15 GC10P054784 GC10P054626 | ||
| GH10J055627 | Enhancer | 0.2 | ENCODE | 650.7 | +0.3 | 311 | 0.6 | PCDH15 MTRNR2L5 |
- 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
- Top Transcription factor binding sites by QIAGEN in the PCDH15 gene promoter:
-
- AML1a
- PPAR-gamma2
- PPAR-gamma1
- POU2F1a
- POU2F1
- GATA-1
- C/EBPbeta
- IRF-2
- Evi-1
- FOXD3
Regulatory Element Products
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 Entrez Gene
- 10q21.1 by HGNC
- 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};
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
- R&D Systems Antibodies for PCDH15 (Protocadherin-15)
- Novus Biologicals Antibodies for PCDH15
-
Abcam antibodies for PCDH15
- Invitrogen Antibodies for PCDH15 (AFLGC-PCDH15)
- GeneTex PCDH15 Antibody for 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
- Search GeneTex for Proteins for PCDH15
Assay Products
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
- Predicted secreted proteins
Protein Domains for PCDH15 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PCDH15 Gene
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 | -- |
Phenotypes for PCDH15 Gene
- MGI mutant phenotypes for PCDH15:
- inferred from 18 alleles
- GenomeRNAi human phenotypes for PCDH15:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCDH15
-
CRISPR Products
-
OriGene CRISPR knockouts for PCDH15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCDH15
- genomics-online: gRNA clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
- Applied Biological Materials CRISPR for PCDH15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCDH15
- GenScript: Design CRISPR guide RNA sequences 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 results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for PCDH15
- RC216005
- RC226513
- RC226546
- RC226598
- RC226671
- RC226748
- RC226827
- RC226910
- RC227022
- RC227022L1
- RC227022L2
- RC227022L3
- RC227022L4
- RC227096
- RC227171
- RC227376
- RG216005
- RG226513
- RG226546
- RG226598
- RG226671
- RG226748
- RG226827
- RG226910
- RG227022
- RG227096
- RG227171
- RG227376
- RC227022L1V
- RC227022L2V
- 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
- genomics-online: cdna clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
- orf clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
- Applied Biological Materials Clones for PCDH15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCDH15 Gene
Pathways & Interactions for PCDH15 Gene
No Data Available
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 | IBA,IEA | -- |
| 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 | 0 |
Drug Products
Transcripts for PCDH15 Gene
mRNA/cDNA for PCDH15 Gene
- (18) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (12) Selected AceView cDNA sequences:
- (36) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000373965 9237 bps (uc057thu.1)
- ENST00000644397 9426 bps
- ENST00000616114 5846 bps (uc010qhr.4)
- ENST00000621708 5700 bps (uc057thx.1)
- ENST00000495484 1896 bps (uc057thy.1)
Unigene Clusters for PCDH15 Gene
- Protocadherin-related 15:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PCDH15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCDH15
- genomics-online: gRNA clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
- Applied Biological Materials CRISPR for PCDH15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCDH15
- GenScript: Design CRISPR guide RNA sequences 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 results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for PCDH15
- RC216005
- RC226513
- RC226546
- RC226598
- RC226671
- RC226748
- RC226827
- RC226910
- RC227022
- RC227022L1
- RC227022L2
- RC227022L3
- RC227022L4
- RC227096
- RC227171
- RC227376
- RG216005
- RG226513
- RG226546
- RG226598
- RG226671
- RG226748
- RG226827
- RG226910
- RG227022
- RG227096
- RG227171
- RG227376
- RC227022L1V
- RC227022L2V
- 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
- genomics-online: cdna clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
- orf clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
- Applied Biological Materials Clones for PCDH15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of PCDH15 Gene:
PCDH15SOURCE 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
- genomics-online: primer clones - Search results for 170 available PCDH15 gene related products
- Overview of 170 available PCDH15 gene related products
-
Recommended
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LOC100140108 33 |
|
||
| PCDH15 34 |
|
OneToOne | |||
| oppossum (Monodelphis domestica) |
Mammalia | PCDH15 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PCDH15 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Pcdh15 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pcdh15 33 |
|
||
| chicken (Gallus gallus) |
Aves | PCDH15 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PCDH15 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pcdh15 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pcdh15b 34 33 |
|
OneToMany | |
| pcdh15a 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002310 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cad99C 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | cdh-5 33 |
|
||
| cdh-3 34 |
|
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
(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
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1056396947 | pathogenic, Deafness, autosomal recessive 23 | 53,809,339(-) | G/A | 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, stop_gained | |
| rs1057516268 | likely-pathogenic, Usher syndrome, type 1F | 53,866,706(-) | AA/A | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1057516342 | likely-pathogenic, Usher syndrome, type 1F | 53,995,732(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs1057516351 | likely-pathogenic, Usher syndrome, type 1F | 53,827,447(-) | GG/G | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1057516470 | likely-pathogenic, Usher syndrome, type 1F | 54,346,364(-) | C/A | splice_donor_variant |
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
(25) MalaCards diseases for PCDH15 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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 |
|
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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 22 44 58
- 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 22 58
- 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 22 58
- 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 22 44 58
- 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 22 58
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