Gene
ptch2
- ID
- ZDB-GENE-980526-44
- Name
- patched 2
- Symbol
- ptch2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable hedgehog family protein binding activity; hedgehog receptor activity; and smoothened binding activity. Acts upstream of or within several processes, including negative regulation of smoothened signaling pathway; osteoblast differentiation; and retinal ganglion cell axon guidance. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; digestive system; head; mesoderm; and musculature system. Used to study coloboma. Human ortholog(s) of this gene implicated in basal cell carcinoma and medulloblastoma. Orthologous to human PTCH2 (patched 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 210 figures from 150 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu467 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 29 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| au1 | Allele with one point mutation | Acceptor Splice Site of Intron 4 | Unknown | ENU | |
| hu1602 | Allele with one point mutation | Donor Splice Site of Intron 10 | Unknown | ENU | |
| la010757Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la014919Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la028797Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa19807 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38340 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39869 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44536 | Allele with one point mutation | Unknown | Unknown | ENU | |
| tc294z | unknown | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-ptch2 | N/A | (12) |
| MO2-ptch2 | N/A | Wolff et al., 2003 |
| MO3-ptch2 | N/A | (2) |
| MO4-ptch2 | N/A | Kaur et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| medulloblastoma | Alliance | Medulloblastoma, somatic | 155255 |
| Basal cell carcinoma, somatic | 605462 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| coloboma | ptch2tc294z/tc294z | standard conditions | Gordon et al., 2018 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | HMGCR/SNAP/NPC1-like, sterol-sensing domain | Sterol-sensing domain | Transmembrane receptor, patched |
|---|---|---|---|---|---|
| UniProtKB:Q98864 | InterPro | 1220 | |||
| UniProtKB:F1Q8S0 | InterPro | 1442 |
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Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-ptch2 | Goat |
|
Everest Biotech
|
2 |
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Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(ptch2:GAL4-VP16) |
|
| 1 | Jacobs et al., 2022 | |
| TgBAC(ptch2:HA-EGFP) |
|
| 1 | (3) | |
| TgBAC(ptch2:Kaede) |
|
| 1 | (14) | |
| Tg(GBS-ptch2:EGFP) |
|
| 1 | (9) | |
| Tg(GBS-ptch2:EGFP-CAAX) |
|
| 1 | (2) | |
| Tg(GBS-ptch2:h2az2a-mCherry) |
|
| 1 | Gordon et al., 2018 | |
| Tg(GBS-ptch2:mCherry) |
|
| 1 | (3) | |
| Tg(GBS-ptch2:mCherry-CAAX) |
|
| 1 | (2) | |
| Tg(GBS-ptch2:NLS-EGFP) |
|
| 1 | (7) | |
| Tg(GBS-ptch2:NLS-mCherry) |
|
| 1 | (3) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-226H23 | ZFIN Curated Data | |
| Encodes | EST | eu467 | Thisse et al., 2005 | |
| Encodes | cDNA | MGC:162571 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_130988 (1) | 4853 nt | ||
| Genomic | GenBank:BX649493 (2) | 175551 nt | ||
| Polypeptide | UniProtKB:F1Q8S0 (1) | 1442 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | PTCH2 | 1 | Phylogenetic tree (2) Conserved genome location (synteny) (1) Amino acid sequence comparison (2) | |
| Mouse | Ptch2 | 4 | Amino acid sequence comparison (5) Phylogenetic tree (2) Conserved genome location (synteny) (1) | |
| Fruit fly | ptc | 2R | Amino acid sequence comparison (1) |
- Guggeri, L., Sosa-Redaelli, I., Cárdenas-Rodríguez, M., Alonso, M., González, G., Naya, H., Prieto-Echagüe, V., Lepanto, P., Badano, J.L. (2024) Follistatin like-1 (Fstl1) regulates adipose tissue development in zebrafish. Adipocyte. 13:24358622435862
- Lusk, S., LaPotin, S., Presnell, J.S., Kwan, K.M. (2024) Increased Netrin downstream of overactive Hedgehog signaling disrupts optic fissure formation. Developmental Dynamics : an official publication of the American Association of Anatomists. :
- Noble, A.R., Masek, M., Hofmann, C., Cuoco, A., Rusterholz, T.D.S., Özkoc, H., Greter, N.R., Phelps, I.G., Vladimirov, N., Kollmorgen, S., Stoeckli, E., Bachmann-Gagescu, R. (2024) Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open. 13(11):
- Umeda, K., Tanaka, K., Chowdhury, G., Nasu, K., Kuroyanagi, Y., Yamasu, K. (2024) Evolutionarily conserved roles of foxg1a in the developing subpallium of zebrafish embryos. Development, growth & differentiation. 66(3):219-234
- Cao, S., Dong, Z., Dong, X., Jia, W., Zhou, F., Zhao, Q. (2023) Zebrafish sox2 Is Required for the Swim Bladder Inflation by Controlling the Swim-Up Behavior. Zebrafish. 20:101810-18
- Chen, X., Liu, F., Li, B., Wang, Y., Yuan, L., Yin, A., Chen, Q., Hu, W., Yao, Y., Zhang, M., Wu, Y., Chen, K. (2022) Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function. Cell & Bioscience. 12:103
- George, A., Lee, J., Liu, J., Kim, S., Brooks, B.P. (2022) Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(4):495-509
- Hernández-Bejarano, M., Gestri, G., Monfries, C., Tucker, L., Dragomir, E.I., Bianco, I.H., Bovolenta, P., Wilson, S.W., Cavodeassi, F. (2022) Foxd1-dependent induction of a temporal retinal character is required for visual function. Development (Cambridge, England). 149(24):
- Jacobs, C.T., Kejriwal, A., Kocha, K.M., Jin, K.Y., Huang, P. (2022) Temporal cell fate determination in the spinal cord is mediated by the duration of Notch signalling. Developmental Biology. 489:1-13
- Li, Y., Wang, C., Zhang, L., Chen, B., Mo, Y., Zhang, J. (2022) Claudin-5a is essential for the functional formation of both zebrafish blood-brain barrier and blood-cerebrospinal fluid barrier. Fluids and barriers of the CNS. 19:40
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