Gene
prph2a
- ID
- ZDB-GENE-000616-8
- Name
- peripherin 2a (retinal degeneration, slow)
- Symbol
- prph2a Nomenclature History
- Previous Names
-
- rds2
- zgc:92295
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to be involved in protein localization to plasma membrane and protein maturation. Predicted to act upstream of or within visual perception. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in retina. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| fundus albipunctatus | Alliance | Retinitis punctata albescens | 136880 |
| partial central choroid dystrophy | Alliance | Choroidal dystrophy, central areolar 2 | 613105 |
| patterned macular dystrophy 1 | Alliance | Macular dystrophy, patterned, 1 | 169150 |
| retinitis pigmentosa 7 | Alliance | Leber congenital amaurosis 18 | 608133 |
| retinitis pigmentosa 7 | Alliance | Retinitis pigmentosa 7 and digenic form | 608133 |
| vitelliform macular dystrophy | Alliance | Macular dystrophy, vitelliform, 3 | 608161 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Peripherin, extracellular domain | Peripherin/rom-1 | Peripherin/rom-1, conserved site | Tetraspanin, EC2 domain superfamily | Tetraspanin/Peripherin |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q66HW7 | InterPro | 345 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prph2a-201
(1)
|
Ensembl | 2,484 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-21C1 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-21E13 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:92295 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131566 (1) | 2456 nt | ||
| Genomic | GenBank:CR854979 (1) | 207513 nt | ||
| Polypeptide | UniProtKB:Q66HW7 (1) | 345 aa |
- Lu, Z., Hu, X., Reilly, J., Jia, D., Liu, F., Yu, S., Liu, X., Xie, S., Qu, Z., Qin, Y., Huang, Y., Lv, Y., Li, J., Gao, P., Wong, F., Shu, X., Tang, Z., Liu, M. (2019) Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration. The Journal of biological chemistry. 294(38):13953-13963
- Zhou, X., Cao, C.Y., Wan, A.T., Yue, G.G., Kwok, F.H., Fung, K.P., Sun, H., Lau, C.B., Puno, P.T., Tsui, S.K. (2018) Functional roles of eriocalyxin B in zebrafish revealed by transcriptome analysis. Molecular omics. 14(3):156-169
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Maugars, G., Dufour, S. (2015) Demonstration of the Coexistence of Duplicated LH Receptors in Teleosts, and Their Origin in Ancestral Actinopterygians. PLoS One. 10:e0135184
- O'Quin, K.E., Yoshizawa, M., Doshi, P., and Jeffery, W.R. (2013) Quantitative Genetic Analysis of Retinal Degeneration in the Blind Cavefish Astyanax mexicanus. PLoS One. 8(2):e57281
- Kassahn, K.S., Dang, V.T., Wilkins, S.J., Perkins, A.C., and Ragan, M.A. (2009) Evolution of gene function and regulatory control after whole-genome duplication: Comparative analyses in vertebrates. Genome research. 19(8):1404-1418
- Trede, N.S., Medenbach, J., Damianov, A., Hung, L.H., Weber, G.J., Paw, B.H., Zhou, Y., Hersey, C., Zapata, A., Keefe, M., Barut, B.A., Stuart, A.B., Katz, T., Amemiya, C.T., Zon, L.I., and Bindereif, A. (2007) Network of coregulated spliceosome components revealed by zebrafish mutant in recycling factor p110. Proceedings of the National Academy of Sciences of the United States of America. 104(16):6608-6613
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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