Gene
sez6l2
- ID
- ZDB-GENE-091204-189
- Name
- seizure related 6 homolog (mouse)-like 2
- Symbol
- sez6l2 Nomenclature History
- Previous Names
-
- si:dkey-282h22.6
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Acts upstream of or within brain development and cranial skeletal system development. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum and neuronal cell body. Is expressed in brain. Orthologous to human SEZ6L2 (seizure related 6 homolog like 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Blaker-Lee et al., 2012
- 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 |
|---|---|---|---|---|---|
| a328 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa6029 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa7540 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa7541 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa10464 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12488 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa26012 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40018 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 8 of 8
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sez6l2 | Thyme et al., 2019 | |
| CRISPR2-sez6l2 | Thyme et al., 2019 | |
| CRISPR3-sez6l2 | Thyme et al., 2019 | |
| CRISPR4-sez6l2 | Thyme et al., 2019 | |
| CRISPR5-sez6l2 | Qiu et al., 2019 | |
| MO1-sez6l2 | N/A | (2) |
| MO2-sez6l2 | N/A | (2) |
1 - 7 of 7
Show
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CUB domain | SEZ6/CSMD/C4BPB Neuronal & Immune Regulators | Spermadhesin, CUB domain superfamily | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9P8A5 | InterPro | 894 | |||||
| UniProtKB:A0A8N7USW0 | InterPro | 894 |
1 - 2 of 2
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sez6l2-201
(1)
|
Ensembl | 2,697 nt | ||
| mRNA |
sez6l2-202
(1)
|
Ensembl | 3,171 nt |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-14K23 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-282H22 | ZFIN Curated Data |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_680990 (1) | 3588 nt | ||
| Genomic | GenBank:AL929124 (1) | 165243 nt | ||
| Polypeptide | UniProtKB:A0A8M9P8A5 (1) | 894 aa |
- Qiu, Y., Arbogast, T., Lorenzo, S.M., Li, H., Tang, S.C., Richardson, E., Hong, O., Cho, S., Shanta, O., Pang, T., Corsello, C., Deutsch, C.K., Chevalier, C., Davis, E.E., Iakoucheva, L.M., Herault, Y., Katsanis, N., Messer, K., Sebat, J. (2019) Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Reports. 28:3320-3328.e4
- 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
- McCammon, J.M., Blaker-Lee, A., Chen, X., Sive, H. (2017) The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes. Human molecular genetics. 26:3699-3712
- 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
- Blaker-Lee, A., Gupta, S., McCammon, J.M., De Rienzo, G., and Sive, H. (2012) Zebrafish homologs of 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Disease models & mechanisms. 5(6):834-851
1 - 6 of 6
Show