Gene
foxc1b
- ID
- ZDB-GENE-010302-2
- Name
- forkhead box C1b
- Symbol
- foxc1b Nomenclature History
- Previous Names
-
- id:ibd5079 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including determination of left/right symmetry; embryonic retina morphogenesis in camera-type eye; and vasculature development. Predicted to be located in nucleus. Is expressed in several structures, including brain; head; head mesenchyme; paraxial mesoderm; and vasculature. Human ortholog(s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Orthologous to human FOXC1 (forkhead box C1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 32 figures from 20 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 |
|---|---|---|---|---|---|
| el620 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| ion156d | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| mw712 | Allele with one insertion | Unknown | Unknown | CRISPR | |
| mw713 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| mw722 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| mw723 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| ua1018 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-foxc1b | Chen et al., 2017 | |
| CRISPR2-foxc1b | (6) | |
| CRISPR3-foxc1b | Xu et al., 2018 | |
| CRISPR4-foxc1b | (4) | |
| CRISPR5-foxc1b | Ferre-Fernández et al., 2020 | |
| CRISPR6-foxc1b | Zi et al., 2024 | |
| CRISPR7-foxc1b | Zi et al., 2024 | |
| MO1-foxc1b | N/A | (12) |
| MO2-foxc1b | N/A | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| anterior segment dysgenesis 3 | Alliance | Anterior segment dysgenesis 3, multiple subtypes | 601631 |
| Axenfeld-Rieger syndrome type 3 | Alliance | Axenfeld-Rieger syndrome, type 3 | 602482 |
| iridogoniodysgenesis syndrome | Alliance | Anterior segment dysgenesis 3, multiple subtypes | 601631 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018122 | Fork head domain conserved site1 |
| Conserved_site | IPR030456 | Fork head domain conserved site 2 |
| Domain | IPR001766 | Fork head domain |
| Domain | IPR047391 | Forkhead box protein C1/C2-like, forkhead domain |
| Family | IPR050211 | Forkhead box domain-containing protein |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Forkhead box domain-containing protein | Forkhead box protein C1/C2-like, forkhead domain | Fork head domain | Fork head domain conserved site1 | Fork head domain conserved site 2 | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q9DE24 | InterPro | 433 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
foxc1b-201
(1)
|
Ensembl | 1,955 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-5foxc1b:GAL4-VP16) |
|
| 1 | Miesfeld et al., 2015 | |
| Tg(foxc1b:EGFP) |
|
| 1 | (7) | |
| Tg(foxc1b:Eos) |
|
| 1 | Qiu et al., 2016 | |
| Tg(foxc1b:GAL4FF,myl7:EGFP) |
|
| 1 | Whitesell et al., 2019 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-100F21 | ZFIN Curated Data | |
| Encodes | EST | ibd5079 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:56256 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131729 (1) | 1967 nt | ||
| Genomic | GenBank:BX510653 (1) | 90530 nt | ||
| Polypeptide | UniProtKB:Q9DE24 (1) | 433 aa |
- Zi, H., Peng, X., Shen, X., Chen, M., Hua, Y., Li, J., Sun, L., Li, H., Deng, Q., Du, J. (2024) Foxc1b regulates brain pericyte proliferation in zebrafish larvae. Journal of genetics and genomics = Yi chuan xue bao. 51(11):1334-1337
- O'Brown, N.M., Patel, N.B., Hartmann, U., Klein, A.M., Gu, C., Megason, S.G. (2023) The secreted neuronal signal spock1 promotes blood-brain barrier development. Developmental Cell. 58(17):1534-1547.e6
- Shin, M., Yin, H.M., Shih, Y.H., Nozaki, T., Portman, D., Toles, B., Kolb, A., Luk, K., Isogai, S., Ishida, K., Hanasaka, T., Parsons, M.J., Wolfe, S.A., Burns, C.E., Burns, C.G., Lawson, N.D. (2023) Generation and application of endogenously floxed alleles for cell-specific knockout in zebrafish. Developmental Cell. 58(22):2614-2626.e7
- Fabian, P., Tseng, K.C., Thiruppathy, M., Arata, C., Chen, H.J., Smeeton, J., Nelson, N., Crump, J.G. (2022) Lifelong single-cell profiling of cranial neural crest diversification in zebrafish. Nature communications. 13:13
- Ferre-Fernández, J.J., Muheisen, S., Thompson, S., Semina, E.V. (2022) CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements. Human genomics. 16:49
- Hawkey-Noble, A., Pater, J.A., Kollipara, R., Fitzgerald, M., Maekawa, A.S., Kovacs, C.S., Young, T.L., French, C.R. (2022) Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis. Genes. 13(7):
- Vöcking, O., Van Der Meulen, K., Patel, M.K., Famulski, J.K. (2022) Zebrafish anterior segment mesenchyme progenitors are defined by function of tfap2a but not sox10. Differentiation; research in biological diversity. 130:324232-42
- Watson, C.J., Tang, W.J., Rojas, M.F., Fiedler, I.A.K., Morfin Montes de Oca, E., Cronrath, A.R., Callies, L.K., Swearer, A.A., Ahmed, A.R., Sethuraman, V., Addish, S., Farr, G.H., Gómez, A.E., Rai, J., Monstad-Rios, A.T., Gardiner, E.M., Karasik, D., Maves, L., Busse, B., Hsu, Y.H., Kwon, R.Y. (2022) wnt16 regulates spine and muscle morphogenesis through parallel signals from notochord and dermomyotome. PLoS Genetics. 18:e1010496
- Chrystal, P.W., French, C.R., Jean, F., Havrylov, S., van Baarle, S., Peturson, A.M., Xu, P., Crump, J.G., Pilgrim, D.B., Lehmann, O.J., Waskiewicz, A.J. (2021) The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning. Genes. 12(2):
- Fowler, G., French, D., Rose, A., Squires, P., Anecito da Silva, C., Ohata, S., Okamoto, H., French, C.R. (2021) Protein fucosylation is required for Notch dependent vascular integrity in zebrafish. Developmental Biology. 480:62-68
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