Gene
lrp2a
- ID
- ZDB-GENE-050119-2
- Name
- low density lipoprotein receptor-related protein 2a
- Symbol
- lrp2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable hormone binding activity. Acts upstream of or within several processes, including glomerular filtration; regulation of receptor-mediated endocytosis; and renal absorption. Predicted to be located in several cellular components, including axon; dendrite; and endosome lumen. Predicted to be part of receptor complex. Predicted to be active in apical plasma membrane. Is expressed in several structures, including gut epithelium; nervous system; otic vesicle; pronephros; and radial glial cell. Used to study myopia. Human ortholog(s) of this gene implicated in Donnai-Barrow syndrome and autoimmune thyroiditis. Orthologous to human LRP2 (LDL receptor related protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la016624Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027052Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| mw1 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| mw90 | Allele with one insertion | Unknown | Unknown | CRISPR | |
| p5bnc | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa17023 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18967 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21599 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21600 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-lrp2a | Collery et al., 2019 | |
| CRISPR2-lrp2a | Theis et al., 2020 | |
| MO1-lrp2a | N/A | (7) |
| MO2-lrp2a | N/A | (2) |
| TALEN1-lrp2a | Chen et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Donnai-Barrow syndrome | Alliance | Donnai-Barrow syndrome | 222448 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myopia | lrp2amw90/mw90 | standard conditions | Collery et al., 2019 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | LDLR class B repeat | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A, conserved site | Low-density lipoprotein (LDL) receptor class A repeat | Low-density lipoprotein receptor-related | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E0AE56 | InterPro | 4673 | ||||||||||||
| UniProtKB:A0A8M1NV12 | InterPro | 4673 | ||||||||||||
| UniProtKB:A0AB32TUV2 | InterPro | 4635 | ||||||||||||
| UniProtKB:A0AB32U0H0 | InterPro | 4654 | ||||||||||||
| UniProtKB:A0AB32U1G2 | InterPro | 4673 |
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Interactions and Pathways
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(rpe65a:GAL4,UAS:lrp2a-EGFP) |
| 1 | Collery et al., 2019 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-81D5 | ZFIN Curated Data | |
| Contained in | BAC | CH211-121K8 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-311N13 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-380O14 | ZFIN Curated Data | |
| Contains | STS | zfishfos432h10.q1k | ZFIN Curated Data | |
| Encodes | EST | IMAGE:680590 | Woods et al., 2005 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001194987 (1) | 14269 nt | ||
| Genomic | GenBank:BX927361 (2) | 119117 nt | ||
| Polypeptide | UniProtKB:A0A8M1NV12 (1) | 4673 aa |
- Liu, Z., Zhang, N., Wang, C., Shi, L., Hu, Y., Wang, Y., Li, J. (2024) Lrp13a and Lrp13b serve as vitellogenin receptors in the ovary of zebrafish†. Biology of reproduction. 111(1):123-134
- Zhai, Y., Zhang, X., Zhao, C., Geng, R., Wu, K., Yuan, M., Ai, N., Ge, W. (2023) Rescue of bmp15 deficiency in zebrafish by mutation of inha reveals mechanisms of BMP15 regulation of folliculogenesis. PLoS Genetics. 19:e1010954e1010954
- Morgan, J., Yarwood, R., Starborg, T., Yan, G., Lowe, M. (2022) Pacsin2 is required for endocytosis in the zebrafish pronephric tubule. Biology Open. 11(6):
- Naylor, R.W., Lemarie, E., Jackson-Crawford, A., Davenport, J.B., Mironov, A., Lowe, M., Lennon, R. (2022) A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish. Kidney International. 102(4):815-827
- Williams, D.M., Gungordu, L., Jackson-Crawford, A., Lowe, M. (2022) Assessment of endocytic traffic and Ocrl function in the developing zebrafish neuroepithelium. Journal of Cell Science. 135(18)
- Quint, W.H., Tadema, K.C.D., de Vrieze, E., Lukowicz, R.M., Broekman, S., Winkelman, B.H.J., Hoevenaars, M., de Gruiter, H.M., van Wijk, E., Schaeffel, F., Meester-Smoor, M., Miller, A.C., Willemsen, R., Klaver, C.C.W., Iglesias, A.I. (2021) Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish. Communications biology. 4:676
- Zhao, G., Zhu, Y., Hu, J., Gao, M., Hong, Y. (2021) l-selenomethionine induces zebrafish embryo cardiovascular defects via down-regulating expression of lrp2b. Chemosphere. 290:133351
- Theis, J.L., Vogler, G., Missinato, M.A., Li, X., Nielsen, T., Zeng, X.I., Martinez-Fernandez, A., Walls, S.M., Kervadec, A., Kezos, J.N., Birker, K., Evans, J.M., O'Byrne, M.M., Fogarty, Z.C., Terzic, A., Grossfeld, P., Ocorr, K., Nelson, T.J., Olson, T.M., Colas, A.R., Bodmer, R. (2020) Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. eLIFE. 9:
- Chen, Z., Luciani, A., Mateos, J.M., Barmettler, G., Giles, R.H., Neuhauss, S.C.F., Devuyst, O. (2019) Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases. Kidney International. 97(6):1150-1163
- Collery, R.F., Link, B.A. (2019) Precise Short Sequence Insertion in Zebrafish Using a CRISPR/Cas9 Approach to Generate a Constitutively Soluble Lrp2 Protein. Frontiers in cell and developmental biology. 7:167
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