Gene
mapre2
- ID
- ZDB-GENE-071004-41
- Name
- microtubule-associated protein, RP/EB family, member 2
- Symbol
- mapre2 Nomenclature History
- Previous Names
-
- zgc:171788 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable microtubule plus-end binding activity. Acts upstream of or within embryonic cranial skeleton morphogenesis. Predicted to be located in anchoring junction; cytoplasm; and microtubule. Predicted to be active in microtubule cytoskeleton. Human ortholog(s) of this gene implicated in congenital symmetric circumferential skin creases 2. Orthologous to human MAPRE2 (microtubule associated protein RP/EB family member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Isrie et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-mapre2 | Chiang et al., 2023 | |
| MO1-mapre2 | N/A | Isrie et al., 2015 |
| MO2-mapre2 | N/A | Isrie et al., 2015 |
| MO3-mapre2 | N/A | Chiang et al., 2023 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital symmetric circumferential skin creases 2 | Alliance | Symmetric circumferential skin creases, congenital, 2 | 616734 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Calponin homology domain | CH domain superfamily | EB1, C-terminal | EB1, C-terminal domain superfamily | Microtubule-associated protein RP/EB |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AW64 | InterPro | 335 | |||||
| UniProtKB:A0A8M2BA49 | InterPro | 291 | |||||
| UniProtKB:A7MC00 | InterPro | 343 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mapre2-201
(1)
|
Ensembl | 639 nt | ||
| mRNA |
mapre2-202
(1)
|
Ensembl | 1,032 nt | ||
| mRNA |
mapre2-203
(1)
|
Ensembl | 1,366 nt |
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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 | CH211-176D9 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:171788 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001109702 (1) | 1734 nt | ||
| Genomic | GenBank:BX005079 (2) | 157845 nt | ||
| Polypeptide | UniProtKB:A7MC00 (1) | 343 aa |
- Chiang, D.Y., Verkerk, A.O., Victorio, R., Shneyer, B.I., van der Vaart, B., Jouni, M., Narendran, N., Kc, A., Sampognaro, J.R., Vetrano-Olsen, F., Oh, J.S., Buys, E., de Jonge, B., Shah, D.A., Kiviniemi, T., Burridge, P.W., Bezzina, C.R., Akhmanova, A., MacRae, C.A. (2023) The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction. Circulation research. 134(1):46-59
- Marchal, G.A., Jouni, M., Chiang, D.Y., Pérez-Hernández Duran, M., Podliesna, S., Yu, N., Casini, S., Potet, F., Veerman, C.C., Klerk, M., Lodder, E.M., Mengarelli, I., Guan, K., Vanoye, C.G., Rothenberg, E., Charpentier, F., Redon, R., George, A., Verkerk, A.O., Bezzina, C.R., MacRae, C.A., Burridge, P., Delmar, M., Galjart, N.J., Portero, V., Remme, C.A. (2021) Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs. Circulation research. 129(3):349-365
- 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
- Isrie, M., Breuss, M., Tian, G., Hansen, A.H., Cristofoli, F., Morandell, J., Kupchinsky, Z.A., Sifrim, A., Rodriguez-Rodriguez, C.M., Dapena, E.P., Doonanco, K., Leonard, N., Tinsa, F., Moortgat, S., Ulucan, H., Koparir, E., Karaca, E., Katsanis, N., Marton, V., Vermeesch, J.R., Davis, E.E., Cowan, N.J., Keays, D.A., Van Esch, H. (2015) Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. American journal of human genetics. 97:790-800
- 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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