Gene
reep6
- ID
- ZDB-GENE-040912-98
- Name
- receptor accessory protein 6
- Symbol
- reep6 Nomenclature History
- Previous Names
-
- zgc:101529
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Involved in embryonic retina morphogenesis in camera-type eye and retina layer formation. Predicted to be located in clathrin-coated vesicle membrane and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in retinitis pigmentosa 77. Orthologous to human REEP6 (receptor accessory protein 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101529 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Hao et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-reep6 | N/A | Hao et al., 2014 |
| MO2-reep6 | N/A | Hao et al., 2014 |
| MO3-reep6 | N/A | Lee et al., 2020 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 77 | Alliance | Retinitis pigmentosa 77 | 617304 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR004345 | TB2/DP1/HVA22 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | TB2/DP1/HVA22 |
|---|---|---|---|
| UniProtKB:Q66IF1 | InterPro | 208 | |
| UniProtKB:A0A8M9QD21 | InterPro | 208 | |
| UniProtKB:A0A8M3BDI2 | InterPro | 213 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-238C9 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101529 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192315 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001004656 (1) | 1087 nt | ||
| Genomic | GenBank:CR678040 (1) | 119986 nt | ||
| Polypeptide | UniProtKB:A0A8M3BDI2 (1) | 213 aa |
- Lee, S.H., Hadipour-Lakmehsari, S., Murthy, H.R., Gibb, N., Miyake, T., Teng, A.C.T., Cosme, J., Yu, J.C., Moon, M., Lim, S., Wong, V., Liu, P., Billia, F., Fernandez-Gonzalez, R., Stagljar, I., Sharma, P., Kislinger, T., Scott, I.C., Gramolini, A.O. (2020) REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects. Nature communications. 11:965
- Hao, H., Veleri, S., Sun, B., Kim, D.S., Keeley, P.W., Kim, J.W., Yang, H.J., Yadav, S.P., Manjunath, S.H., Sood, R., Liu, P., Reese, B.E., Swaroop, A. (2014) Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. Human molecular genetics. 23(16):4260-71
- 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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