Gene
pcdh19
- ID
- ZDB-GENE-030131-4218
- Name
- protocadherin 19
- Symbol
- pcdh19 Nomenclature History
- Previous Names
-
- fc83e05
- wu:fc83e05
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Enables cadherin binding activity; calcium ion binding activity; and identical protein binding activity. Involved in cell-cell adhesion and neural tube formation. Acts upstream of or within several processes, including brain morphogenesis; excitatory postsynaptic potential; and regulation of neuronal action potential. Located in plasma membrane. Is expressed in several structures, including brain; eye; immature eye; posterior neural keel; and spinal cord. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 25 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la011465Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la012600Tg | Transgenic insertion | Unknown | Unknown | DNA | |
os50 | Allele with one deletion | Unknown | Unknown | TALEN | |
os51 | Allele with one deletion | Unknown | Unknown | TALEN | |
os52 | Allele with one deletion | Unknown | Unknown | TALEN | |
s3027 | Allele with one insertion | Exon 1 | Unknown | CRISPR | |
sa952 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa12445 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa22530 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa22531 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 9 | Alliance | Developmental and epileptic encephalopathy 9 | 300088 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily | Cadherin, N-terminal | Protocadherin/Cadherin-related Cell Adhesion |
---|---|---|---|---|---|---|---|
UniProtKB:A1L1W7 | InterPro | 1078 | |||||
UniProtKB:A0A8M3AP82 | InterPro | 1023 | |||||
UniProtKB:A0A2R8QME5 | InterPro | 1094 | |||||
UniProtKB:F8W3X3 | InterPro PDB | 1088 | |||||
UniProtKB:A0A8M1NJM2 | InterPro | 1088 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
pcdh19-201
(1)
|
Ensembl | 6,346 nt | ||
mRNA |
pcdh19-202
(1)
|
Ensembl | 3,054 nt | ||
mRNA |
pcdh19-203
(1)
|
Ensembl | 7,503 nt |
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Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-pcdh19 | polyclonal | Rabbit |
|
1 |
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Plasmids
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
TgBAC(pcdh19-0.5hsp70l:H2A-GFP) |
|
| 1 | Zebrafish Nomenclature Committee | |
TgBAC(pcdh19:GAL4-VP16-FRT,5xUAS:LIFEACT-GFP) |
|
| 1 | (2) |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-237H22 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-359P3 | ZFIN Curated Data | |
Encodes | EST | fc83e05 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001127519 (1) | 6322 nt | ||
Genomic | GenBank:BX511013 (1) | 161346 nt | ||
Polypeptide | UniProtKB:A0A2R8QME5 (1) | 1094 aa |
- Locubiche, S., Ordóñez, V., Abad, E., Scotto di Mase, M., Di Donato, V., De Santis, F. (2024) A Zebrafish-Based Platform for High-Throughput Epilepsy Modeling and Drug Screening in F0. International Journal of Molecular Sciences. 25(5):
- Chen, F., Köhler, M., Cucun, G., Takamiya, M., Kizil, C., Cosacak, M.I., Rastegar, S. (2023) sox1a:eGFP transgenic line and single-cell transcriptomics reveal the origin of zebrafish intraspinal serotonergic neurons. iScience. 26:107342107342
- Robens, B.K., Yang, X., McGraw, C.M., Turner, L.H., Robens, C., Thyme, S., Rotenberg, A., Poduri, A. (2022) Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish. Neurobiology of disease. 169:105738
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Hudson, J.D., Tamilselvan, E., Sotomayor, M., Cooper, S.R. (2021) A complete Protocadherin-19 ectodomain model for evaluating epilepsy-causing mutations and potential protein interaction sites. Structure (London, England : 1993). 29(10):1128-1143.e4
- Tsai, T.Y., Sikora, M., Xia, P., Colak-Champollion, T., Knaut, H., Heisenberg, C.P., Megason, S.G. (2020) An adhesion code ensures robust pattern formation during tissue morphogenesis. Science (New York, N.Y.). 370:113-116
- Light, S.E.W., Jontes, J.D. (2019) Multiplane calcium imaging reveals disrupted development of network topology in zebrafish pcdh19 mutants. eNeuro. 6(3):
- Samarut, E., Chalopin, D., Riché, R., Allard, M., Liao, M., Drapeau, P. (2019) Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish. PLoS One. 14:e0216159
- Hung, K.S., Hsiao, C.C., Pai, T.W., Hu, C.H., Tzou, W.S., Wang, W.D., Chen, Y.R. (2018) Functional enrichment analysis based on long noncoding RNA associations. BMC systems biology. 12:45
- Williams, J.S., Hsu, J.Y., Rossi, C.C., Artinger, K.B. (2018) Requirement of zebrafish pcdh10a and pcdh10b in melanocyte precursor migration. Developmental Biology. 444 Suppl 1:S274-S286
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