Gene
rab3gap2
- ID
- ZDB-GENE-030616-610
- Name
- RAB3 GTPase activating protein subunit 2 (non-catalytic)
- Symbol
- rab3gap2 Nomenclature History
- Previous Names
-
- si:ch211-214p16.5 (1)
- si:zc214p16.5
- wu:fb94b08
- zgc:158161
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable small GTPase binding activity. Predicted to contribute to enzyme regulator activity. Predicted to be involved in establishment of protein localization to endoplasmic reticulum membrane; macroautophagy; and synaptic signaling. Predicted to be located in cytoplasm. Predicted to be active in autophagosome and presynaptic membrane. Human ortholog(s) of this gene implicated in Martsolf syndrome and Warburg micro syndrome 2. Orthologous to human RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 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
- 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 |
|---|---|---|---|
| Martsolf syndrome | Alliance | Martsolf syndrome 1 | 212720 |
| Warburg micro syndrome 2 | Alliance | Warburg micro syndrome 2 | 614225 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Rab3GAP regulatory subunit | Rab3GAP regulatory subunit, C-terminal | Rab3-GAP regulatory subunit, N-terminal |
|---|---|---|---|---|---|
| UniProtKB:Q7ZYZ0 | InterPro | 1270 | |||
| UniProtKB:K7DYN0 | InterPro | 1345 | |||
| UniProtKB:A0A8M6YTS4 | InterPro | 1360 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rab3gap2-201
(1)
|
Ensembl | 4,672 nt | ||
| mRNA |
rab3gap2-202
(1)
|
Ensembl | 5,242 nt | ||
| mRNA |
rab3gap2-203
(1)
|
Ensembl | 4,920 nt | ||
| ncRNA |
rab3gap2-002
(1)
|
Ensembl | 952 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 | CH211-214P16 | ZFIN Curated Data | |
| Contains | SNP | rs3728863 | ZFIN Curated Data | |
| Contains | SNP | rs3728864 | ZFIN Curated Data | |
| Encodes | EST | fb94b08 | ||
| Encodes | cDNA | MGC:158161 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001004528 (1) | 4672 nt | ||
| Genomic | GenBank:AL929207 (1) | 70206 nt | ||
| Polypeptide | UniProtKB:A0A8M6YTS4 (1) | 1360 aa |
- Luo, H., Zhang, Y., Deng, Y., Li, L., Sheng, Z., Yu, Y., Lin, Y., Chen, X., Feng, P. (2021) Nxhl Controls Angiogenesis by Targeting VE-PTP Through Interaction With Nucleolin. Frontiers in cell and developmental biology. 9:728821
- 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
- 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
- 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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