Gene
cdk5rap2
- ID
- ZDB-GENE-030131-6392
- Name
- CDK5 regulatory subunit associated protein 2
- Symbol
- cdk5rap2 Nomenclature History
- Previous Names
-
- cep215 (1)
- fi74c05
- wu:fi74c05
- zgc:55582
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable molecular adaptor activity. Predicted to be involved in centrosome cycle and regulation of Golgi organization. Predicted to be located in cytoplasm and microtubule organizing center. Predicted to be active in Golgi apparatus and centrosome. Human ortholog(s) of this gene implicated in Seckel syndrome; microcephaly; and primary autosomal recessive microcephaly 3. Orthologous to human CDK5RAP2 (CDK5 regulatory subunit associated protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55582 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa8639 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9261 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12833 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23848 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23849 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23850 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31053 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32328 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37217 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37218 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 10 of 17
Show
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 3 | Alliance | Microcephaly 3, primary, autosomal recessive | 604804 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Centrosomin, N-terminal motif 1 | Microtubule-associated AKAP9-binding protein |
|---|---|---|---|---|
| UniProtKB:A0A8M3ALW0 | InterPro | 2873 | ||
| UniProtKB:A0A8M3AWK4 | InterPro | 2871 | ||
| UniProtKB:A0A8M3AL71 | InterPro | 2912 | ||
| UniProtKB:A0A8M3ATJ9 | InterPro | 2913 | ||
| UniProtKB:Q802Z7 | InterPro | 1208 |
1 - 5 of 16 Show all
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zgc:55582-201
(1)
|
Ensembl | 3,835 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-102G19 | ZFIN Curated Data | |
| Encodes | EST | fi74c05 | ||
| Encodes | cDNA | MGC:55582 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001430821 (1) | 8787 nt | ||
| Genomic | GenBank:BX469935 (1) | 171507 nt | ||
| Polypeptide | UniProtKB:A0A8M3ATJ9 (1) | 2913 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | CDK5RAP2 | 9 | Amino acid sequence comparison (1) |
- Sepulveda, G., Antkowiak, M., Brust-Mascher, I., Mahe, K., Ou, T., Castro, N.M., Christensen, L.N., Cheung, L., Jiang, X., Yoon, D., Huang, B., Jao, L.E. (2018) Co-translational protein targeting facilitates centrosomal recruitment of PCNT during centrosome maturation in vertebrates. eLIFE. 7
- 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
- Wang, Z., Wu, T., Shi, L., Zhang, L., Zheng, W., Qu, J.Y., Niu, R., and Qi, R.Z. (2010) Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex. The Journal of biological chemistry. 285(29):22658-22665
- 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
1 - 4 of 4
Show