Gene
atp6ap2
- ID
- ZDB-GENE-040426-1960
- Name
- ATPase H+ transporting accessory protein 2
- Symbol
- atp6ap2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable signaling receptor activity. Acts upstream of or within apical protein localization and intrahepatic bile duct development. Predicted to be located in bounding membrane of organelle; dendritic spine membrane; and endoplasmic reticulum membrane. Predicted to be active in external side of plasma membrane. Is expressed in central nervous system; digestive system; mucus secreting cell; notochord; and yolk syncytial layer. Human ortholog(s) of this gene implicated in X-linked parkinsonism-spasticity syndrome; congenital disorder of glycosylation type IIr; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73194 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital disorder of glycosylation type IIr | Alliance | Congenital disorder of glycosylation, type IIr | 301045 |
| syndromic X-linked intellectual disability Hedera type | Alliance | Intellectual developmental disorder, X-linked syndromic, Hedera type | 300423 |
| X-linked parkinsonism-spasticity syndrome | Alliance | ?Parkinsonism with spasticity, X-linked | 300911 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR012493 | Renin receptor-like |
Domain Details Per Protein
| Protein | Additional Resources | Length | Renin receptor-like |
|---|---|---|---|
| UniProtKB:A0A286YA30 | InterPro | 398 | |
| UniProtKB:F1QIH1 | InterPro | 386 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6ap2-201
(1)
|
Ensembl | 841 nt | ||
| mRNA |
atp6ap2-202
(1)
|
Ensembl | 1,619 nt | ||
| mRNA |
atp6ap2-203
(1)
|
Ensembl | 658 nt | ||
| mRNA |
atp6ap2-204
(1)
|
Ensembl | 1,731 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-119G10 | ZFIN Curated Data | |
| Encodes | EST | fj36c03 | ZFIN Curated Data | |
| Encodes | EST | fq15e04 | Rauch et al., 2003 | |
| Encodes | cDNA | MGC:73194 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213023 (1) | 1627 nt | ||
| Genomic | GenBank:BX649485 (2) | 77573 nt | ||
| Polypeptide | UniProtKB:A0A286YA30 (1) | 398 aa |
- Kapuria, S., Bai, H., Fierros, J., Huang, Y., Ma, F., Yoshida, T., Aguayo, A., Kok, F., Wiens, K.M., Yip, J.K., McCain, M.L., Pellegrini, M., Nagashima, M., Hitchcock, P.F., Mochizuki, N., Lawson, N.D., Harrison, M.M.R., Lien, C.L. (2022) Heterogeneous pdgfrβ+ cells regulate coronary vessel development and revascularization during heart regeneration. Development (Cambridge, England). 149(4):
- Kim, G.J., Mo, H., Liu, H., Wu, Z., Chen, S., Zheng, J., Zhao, X., Nucum, D., Shortland, J., Peng, L., Elepano, M., Tang, B., Olson, S., Paras, N., Li, H., Renslo, A.R., Arkin, M.R., Huang, B., Lu, B., Sirota, M., Guo, S. (2021) A zebrafish screen reveals Renin-angiotensin system inhibitors as neuroprotective via mitochondrial restoration in dopamine neurons. eLIFE. 10:
- Tatarakis, D., Cang, Z., Wu, X., Sharma, P.P., Karikomi, M., MacLean, A.L., Nie, Q., Schilling, T.F. (2021) Single-cell transcriptomic analysis of zebrafish cranial neural crest reveals spatiotemporal regulation of lineage decisions during development. Cell Reports. 37:110140
- Levic, D.S., Ryan, S., Marjoram, L., Honeycutt, J., Bagwell, J., Bagnat, M. (2020) Distinct roles for luminal acidification in apical protein sorting and trafficking in zebrafish. The Journal of cell biology. 219(4):
- Xue, Y., Liu, D., Cui, G., Ding, Y., Ai, D., Gao, S., Zhang, Y., Suo, S., Wang, X., Lv, P., Zhou, C., Li, Y., Chen, X., Peng, G., Jing, N., Han, J.J., Liu, F. (2019) A 3D Atlas of Hematopoietic Stem and Progenitor Cell Expansion by Multi-dimensional RNA-Seq Analysis. Cell Reports. 27:1567-1578.e5
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Eauclaire, S.F., Cui, S., Ma, L., Matous, J., Marlow, F.L., Gupta, T., Burgess, H.A., Abrams, E.W., Kapp, L.D., Granato, M., Mullins, M.C., and Matthews, R.P. (2012) Mutations in vacuolar H(+)-ATPase subunits lead to biliary developmental defects in zebrafish. Developmental Biology. 365(2):434-444
- Nissen, R.M., Amsterdam, A., and Hopkins, N. (2006) A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for Endothelin-1 expression. BMC Developmental Biology. 6:28
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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