Gene
stxbp2
- ID
- ZDB-GENE-040426-2482
- Name
- syntaxin binding protein 2
- Symbol
- stxbp2 Nomenclature History
- Previous Names
-
- zgc:85807
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable syntaxin-1 binding activity and syntaxin-3 binding activity. Predicted to be involved in intracellular protein transport; presynaptic dense core vesicle exocytosis; and vesicle docking involved in exocytosis. Predicted to act upstream of or within vesicle-mediated transport. Predicted to be active in plasma membrane and secretory granule. Is expressed in brain; epidermis; liver; periderm; and sensory system. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 5. Orthologous to human STXBP2 (syntaxin binding protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85807 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2104 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12115 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13874 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa20143 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hemophagocytic lymphohistiocytosis 5 | Alliance | Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease | 613101 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PTU9 | InterPro | 343 | |||||
| UniProtKB:Q6NUX6 | InterPro | 595 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
stxbp2-201
(1)
|
Ensembl | 2,529 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 | CH211-280H11 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-61H1 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:85807 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213289 (1) | 2542 nt | ||
| Genomic | GenBank:AL954361 (1) | 161681 nt | ||
| Polypeptide | UniProtKB:Q6NUX6 (1) | 595 aa |
- 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
- Coppola, U., Annona, G., D'Aniello, S., Ristoratore, F. (2016) Rab32 and Rab38 genes in chordate pigmentation: an evolutionary perspective. BMC Evolutionary Biology. 16:26
- 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
- Hoffman, G.G., Branam, A.M., Huang, G., Pelegri, F., Cole, W.G., Wenstrup, R.M., and Greenspan, D.S. (2010) Characterization of the Six Zebrafish Clade B Fibrillar Procollagen Genes, with Evidence for Evolutionarily Conserved Alternative Splicing within the pro-alpha1(V) C-propeptide. Matrix biology : journal of the International Society for Matrix Biology. 29(4):261-275
- Jelen, N., Ule, J., Ivin, M., and Darnell, R.B. (2007) Evolution of Nova-Dependent Splicing Regulation in the Brain. PLoS Genetics. 3(10):1838-1847
- 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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