Gene
syngap1b
- ID
- ZDB-GENE-100921-2
- Name
- synaptic Ras GTPase activating protein 1b
- Symbol
- syngap1b Nomenclature History
- Previous Names
-
- syngap1
- si:dkey-246f6.1
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Acts upstream of or within brain morphogenesis and swimming behavior. Is expressed in hindbrain and optic tectum. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 5. Orthologous to human SYNGAP1 (synaptic Ras GTPase activating protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a371 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| s3039 | Allele with one delins | Unknown | Unknown | CRISPR | |
| sa18055 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30692 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36251 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39127 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tup1a | Allele with one deletion | Unknown | Frameshift | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-syngap1b | (2) | |
| CRISPR2-syngap1b | (2) | |
| CRISPR3-syngap1b | (2) | |
| CRISPR4-syngap1b | (2) | |
| CRISPR5-syngap1b | Colón-Rodríguez et al., 2020 | |
| CRISPR6-syngap1b | Griffin et al., 2021 | |
| MO1-syngap1b | N/A | Kozol et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 5 | Alliance | Intellectual developmental disorder, autosomal dominant 5 | 612621 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023152 | Ras GTPase-activating protein, conserved site |
| Domain | IPR000008 | C2 domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR001936 | Ras GTPase-activating domain |
| Domain | IPR021887 | Disabled homolog 2-interacting protein, C-terminal domain |
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Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | Disabled homolog 2-interacting protein, C-terminal domain | PH-like domain superfamily | Pleckstrin homology domain | Ras GTPase-activating domain | Ras GTPase-activating protein | Ras GTPase-activating protein, conserved site | Rho GTPase activation protein |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9NZ00
|
1391 | |||||||||
|
UniProtKB:A0A8M9NZ04
|
1355 | |||||||||
|
UniProtKB:A0A8M9PM32
|
1419 | |||||||||
|
UniProtKB:A0A8M9PM37
|
1380 | |||||||||
|
UniProtKB:A0A8M9PCU4
|
1428 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syngap1b-201
(1)
|
Ensembl | 7,229 nt | ||
| mRNA |
syngap1b-202
(1)
|
Ensembl | 7,300 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 | DKEY-246F6 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-246M23 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-107B17 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-226L2 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001326467 (1) | |||
| Genomic | GenBank:CR933818 (1) | 243546 nt | ||
| Polypeptide | UniProtKB:E7F1U4 (1) | 1507 aa |
- Comparative Orthology
- Alliance
- Sumathipala, S.H., Khan, S., Kozol, R.A., Araki, Y., Syed, S., Huganir, R.L., Dallman, J.E. (2024) Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related disorder. Frontiers in molecular neuroscience. 17:14017461401746
- Geng, Y., Zhang, T., Alonzo, I.G., Godar, S.C., Yates, C., Pluimer, B.R., Harrison, D.L., Nath, A.K., Yeh, J.J., Drummond, I.A., Bortolato, M., Peterson, R.T. (2022) Top2a promotes the development of social behavior via PRC2 and H3K27me3. Science advances. 8:eabm7069
- Gonçalves, C., Kareklas, K., Teles, M.C., Varela, S.A.M., Costa, J., Leite, R.B., Paixão, T., Oliveira, R.F. (2022) Phenotypic architecture of sociality and its associated genetic polymorphisms in zebrafish. Genes, brain, and behavior. 21(5):e12809
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Colón-Rodríguez, A., Uribe-Salazar, J.M., Weyenberg, K.B., Sriram, A., Quezada, A., Kaya, G., Jao, E., Radke, B., Lein, P.J., Dennis, M.Y. (2020) Assessment of Autism Zebrafish Mutant Models Using a High-Throughput Larval Phenotyping Platform. Frontiers in cell and developmental biology. 8:586296
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- 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
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Kozol, R.A., Cukier, H.N., Zou, B., Mayo, V., De Rubeis, S., Cai, G., Griswold, A.J., Whitehead, P.L., Haines, J.L., Gilbert, J.R., Cuccaro, M.L., Martin, E.R., Baker, J.D., Buxbaum, J.D., Pericak-Vance, M.A., Dallman, J.E. (2015) Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Human molecular genetics. 24(14):4006-23
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