|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Mechanotransduction by hair cells: models, molecules, and mechanisms. | Gillespie PG and Muller U, Cell. 2009 Oct 2;139(1):33-44. doi: 10.1016/j.cell.2009.09.010. |
3. | Sensing sound: molecules that orchestrate mechanotransduction by hair cells. | Kazmierczak P and Muller U, Trends Neurosci. 2012 Apr;35(4):220-9. doi: 10.1016/j.tins.2011.10.007. Epub 2011 Dec 15. |
4. | Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene. | Naoi K, etal., Exp Anim. 2009 Jan;58(1):1-10. |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | Calcium-dependent binding of HCN1 channel protein to hair cell stereociliary tip link protein protocadherin 15 CD3. | Ramakrishnan NA, etal., J Biol Chem. 2009 Jan 30;284(5):3227-38. doi: 10.1074/jbc.M806177200. Epub 2008 Nov 13. |
7. | HCN1 and HCN2 proteins are expressed in cochlear hair cells: HCN1 can form a ternary complex with protocadherin 15 CD3 and F-actin-binding filamin A or can interact with HCN2. | Ramakrishnan NA, etal., J Biol Chem. 2012 Nov 2;287(45):37628-46. doi: 10.1074/jbc.M112.375832. Epub 2012 Sep 4. |
8. | GOA pipeline | RGD automated data pipeline |
9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. | Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717. |
PMID:5093631 | PMID:9653653 | PMID:10430593 | PMID:10978835 | PMID:11124469 | PMID:11138007 | PMID:11398101 | PMID:11487575 | PMID:14570705 | PMID:15537665 | PMID:15811708 | PMID:16369489 |
PMID:16481439 | PMID:16679490 | PMID:16799054 | PMID:16887306 | PMID:16962269 | PMID:18339676 | PMID:21427143 | PMID:23217710 | PMID:23376485 | PMID:26754646 |
Pcdh15 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PCDH15 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pcdh15 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pcdh15 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PCDH15 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PCDH15 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pcdh15 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PCDH15 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PCDH15 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pcdh15 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Pcdh15
16640 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D20Rat60 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D20Got15 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D20Got14 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH142552 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH144278 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AU048858 |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9 | 9 | 27 | 146 | 49 | 44 | 17 | 25 | 17 | 6 | 150 | 77 | 4 | 125 | 39 | 82 | 27 | 17 | 17 |
RefSeq Transcripts | NM_001271377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_063279549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063279550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063279551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063279552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063279553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC129350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC132050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000067633 ⟹ ENSRNOP00000060829 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000098841 ⟹ ENSRNOP00000084743 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000100057 ⟹ ENSRNOP00000095831 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000103718 ⟹ ENSRNOP00000091654 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000105317 ⟹ ENSRNOP00000085814 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000109482 ⟹ ENSRNOP00000093215 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000112877 ⟹ ENSRNOP00000076657 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000117699 ⟹ ENSRNOP00000088506 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000117858 ⟹ ENSRNOP00000081741 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001271377 ⟹ NP_001258306 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_063279549 ⟹ XP_063135619 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063279550 ⟹ XP_063135620 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063279551 ⟹ XP_063135621 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063279552 ⟹ XP_063135622 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063279553 ⟹ XP_063135623 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001258306 | (Get FASTA) | NCBI Sequence Viewer |
XP_063135619 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063135620 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063135621 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063135622 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063135623 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000060829 | ||
ENSRNOP00000060829.4 | |||
ENSRNOP00000076657 | |||
ENSRNOP00000076657.1 | |||
ENSRNOP00000081741.1 | |||
ENSRNOP00000084743 | |||
ENSRNOP00000084743.1 | |||
ENSRNOP00000085814.1 | |||
ENSRNOP00000088506.1 | |||
ENSRNOP00000091654.1 | |||
ENSRNOP00000093215.1 | |||
ENSRNOP00000095831.1 |
RefSeq Acc Id: | NP_001258306 ⟸ NM_001271377 |
- Peptide Label: | precursor |
- UniProtKB: | F1LXN4 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000060829 ⟸ ENSRNOT00000067633 |
Ensembl Acc Id: | ENSRNOP00000081741 ⟸ ENSRNOT00000117858 |
Ensembl Acc Id: | ENSRNOP00000095831 ⟸ ENSRNOT00000100057 |
Ensembl Acc Id: | ENSRNOP00000076657 ⟸ ENSRNOT00000112877 |
Ensembl Acc Id: | ENSRNOP00000091654 ⟸ ENSRNOT00000103718 |
Ensembl Acc Id: | ENSRNOP00000084743 ⟸ ENSRNOT00000098841 |
Ensembl Acc Id: | ENSRNOP00000088506 ⟸ ENSRNOT00000117699 |
Ensembl Acc Id: | ENSRNOP00000085814 ⟸ ENSRNOT00000105317 |
Ensembl Acc Id: | ENSRNOP00000093215 ⟸ ENSRNOT00000109482 |
RefSeq Acc Id: | XP_063135619 ⟸ XM_063279549 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5Y0L1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063135621 ⟸ XM_063279551 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5Y0L1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063135620 ⟸ XM_063279550 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5Y0L1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063135622 ⟸ XM_063279552 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I5Y0L1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063135623 ⟸ XM_063279553 |
- Peptide Label: | isoform X3 |
- UniProtKB: | F1LXN4 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F1LXN4-F1-model_v2 | AlphaFold | F1LXN4 | 1-1551 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1590969 | AgrOrtholog |
BioCyc Gene | G2FUF-4091 | BioCyc |
Ensembl Genes | ENSRNOG00000000606 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000067633 | ENTREZGENE |
ENSRNOT00000067633.5 | UniProtKB/TrEMBL | |
ENSRNOT00000098841 | ENTREZGENE | |
ENSRNOT00000098841.1 | UniProtKB/TrEMBL | |
ENSRNOT00000100057.1 | UniProtKB/TrEMBL | |
ENSRNOT00000103718.1 | UniProtKB/TrEMBL | |
ENSRNOT00000105317.1 | UniProtKB/TrEMBL | |
ENSRNOT00000109482.1 | UniProtKB/TrEMBL | |
ENSRNOT00000112877 | ENTREZGENE | |
ENSRNOT00000112877.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117699.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117858.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.3430 | UniProtKB/TrEMBL |
Cadherins | UniProtKB/TrEMBL | |
InterPro | Cadherin | UniProtKB/TrEMBL |
Cadherin-domain_protein | UniProtKB/TrEMBL | |
Cadherin-like | UniProtKB/TrEMBL | |
Cadherin_CS | UniProtKB/TrEMBL | |
EC_dom | UniProtKB/TrEMBL | |
PCDH15_12th_dom | UniProtKB/TrEMBL | |
Protocadherin-15 | UniProtKB/TrEMBL | |
NCBI Gene | 690865 | ENTREZGENE |
PANTHER | DESMOGLEIN FAMILY MEMBER | UniProtKB/TrEMBL |
NEURAL-CADHERIN | UniProtKB/TrEMBL | |
Pfam | Cadherin | UniProtKB/TrEMBL |
ECD | UniProtKB/TrEMBL | |
PCDH15_12th | UniProtKB/TrEMBL | |
PhenoGen | Pcdh15 | PhenoGen |
PRINTS | CADHERIN | UniProtKB/TrEMBL |
PROSITE | CADHERIN_1 | UniProtKB/TrEMBL |
CADHERIN_2 | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000000606 | RatGTEx |
SMART | SM00112 | UniProtKB/TrEMBL |
Superfamily-SCOP | Cadherin | UniProtKB/TrEMBL |
UniProt | A0A8I5Y0L1 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZTI9_RAT | UniProtKB/TrEMBL | |
A0A8I5ZYQ7_RAT | UniProtKB/TrEMBL | |
A0A8I6A7Z6_RAT | UniProtKB/TrEMBL | |
A0A8I6AT55_RAT | UniProtKB/TrEMBL | |
A0A8I6B3E0_RAT | UniProtKB/TrEMBL | |
A0A8I6GEC2_RAT | UniProtKB/TrEMBL | |
A0A8I6GK65_RAT | UniProtKB/TrEMBL | |
F1LXN4 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2021-03-09 | Pcdh15 | protocadherin related 15 | NEWGENE_1590969 | protocadherin-related 15 | Data merged from RGD:9206894 | 737654 | PROVISIONAL |
2017-07-18 | Pcdh15 | protocadherin related 15 | Pcdh15 | protocadherin 15 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2014-08-25 | NEWGENE_1590969 | protocadherin-related 15 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2013-05-24 | Pcdh15 | protocadherin 15 | LOC687745 | similar to protocadherin 15 | Data merged from RGD:1597540 | 1643240 | APPROVED |
2008-03-06 | Pcdh15 | protocadherin 15 | LOC690865 | similar to protocadherin 15 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-11-20 | LOC690865 | similar to protocadherin 15 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2006-11-20 | LOC687745 | similar to protocadherin 15 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |