Gene
nr2f1a
- ID
- ZDB-GENE-980526-115
- Name
- nuclear receptor subfamily 2, group F, member 1a
- Symbol
- nr2f1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and nuclear receptor activity. Acts upstream of or within circulatory system development and endothelial cell proliferation. Predicted to be located in nucleus. Is expressed in several structures, including basal plate midbrain region; cardiovascular system; mesoderm; nervous system; and pharyngeal arch. Human ortholog(s) of this gene implicated in Bosch-Boonstra-Schaaf optic atrophy syndrome. Orthologous to human NR2F1 (nuclear receptor subfamily 2 group F member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 29 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:76864 (16 images)
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ci1009 | Allele with one deletion | Exon 2 | Premature Stop | CRISPR | |
| ci1017 | Allele with one delins | 5' UTR | Unknown | ENU | |
| el512 | Allele with one deletion | Exon 1 | Frameshift, Premature Stop | TALEN | |
| sa11358 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14691 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20527 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40551 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45227 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sud21 | Allele with one deletion | Exon 1 | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bosch-Boonstra-Schaaf optic atrophy syndrome | Alliance | Bosch-Boonstra-Schaaf optic atrophy syndrome | 615722 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000536 | Nuclear hormone receptor, ligand-binding domain |
| Domain | IPR001628 | Zinc finger, nuclear hormone receptor-type |
| Family | IPR001723 | Nuclear hormone receptor |
| Family | IPR050274 | Nuclear hormone receptor family NR2 subfamily |
| Homologous_superfamily | IPR013088 | Zinc finger, NHR/GATA-type |
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Domain Details Per Protein
| Protein | Length | Nuclear hormone receptor | Nuclear hormone receptor family NR2 subfamily | Nuclear hormone receptor, ligand-binding domain | Nuclear hormone receptor-like domain superfamily | Zinc finger, NHR/GATA-type | Zinc finger, nuclear hormone receptor-type |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q06725
|
411 | ||||||
|
UniProtKB:A0A8M9Q2V3
|
235 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nr2f1a-201
(1)
|
Ensembl | 2,994 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-nr2f1a | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-10A3 | ZFIN Curated Data | |
| Encodes | EST | fc10d05 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:65769 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:76864 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131180 (1) | 2937 nt | ||
| Genomic | GenBank:CR751602 (2) | 65729 nt | ||
| Polypeptide | UniProtKB:Q06725 (1) | 411 aa |
- Chowdhury, G., Umeda, K., Ohyanagi, T., Nasu, K., Yamasu, K. (2024) Involvement of nr2f genes in brain regionalization and eye development during early zebrafish development. Development, growth & differentiation. 66(2):145-160
- Umeda, K., Tanaka, K., Chowdhury, G., Nasu, K., Kuroyanagi, Y., Yamasu, K. (2024) Evolutionarily conserved roles of foxg1a in the developing subpallium of zebrafish embryos. Development, growth & differentiation. 66(3):219-234
- Gafranek, J.T., D'Aniello, E., Ravisankar, P., Thakkar, K., Vagnozzi, R.J., Lim, H.W., Salomonis, N., Waxman, J.S. (2023) Sinus venosus adaptation models prolonged cardiovascular disease and reveals insights into evolutionary transitions of the vertebrate heart. Nature communications. 14:55095509
- Martin, K.E., Ravisankar, P., Beerens, M., MacRae, C.A., Waxman, J.S. (2023) Nr2f1a maintains atrial nkx2.5 expression to repress pacemaker identity within venous atrial cardiomyocytes of zebrafish. eLIFE. 12:
- Okeke, C., Paulding, D., Riedel, A., Paudel, S., Phelan, C., Teng, C.S., Barske, L. (2022) Control of cranial ectomesenchyme fate by Nr2f nuclear receptors. Development (Cambridge, England). 149(23):
- Song, M., Yuan, X., Racioppi, C., Leslie, M., Stutt, N., Aleksandrova, A., Christiaen, L., Wilson, M.D., Scott, I.C. (2022) GATA4/5/6 family transcription factors are conserved determinants of cardiac versus pharyngeal mesoderm fate. Science advances. 8:eabg0834
- Buono, L., Corbacho, J., Naranjo, S., Almuedo-Castillo, M., Moreno-Marmol, T., de la Cerda, B., Sanbria-Reinoso, E., Polvillo, R., Díaz-Corrales, F.J., Bogdanovic, O., Bovolenta, P., Martínez-Morales, J.R. (2021) Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish. Nature communications. 12:3866
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- den Broeder, M.J., Ballangby, J., Kamminga, L.M., Aleström, P., Legler, J., Lindeman, L.C., Kamstra, J.H. (2020) Inhibition of methyltransferase activity of enhancer of zeste 2 leads to enhanced lipid accumulation and altered chromatin status in zebrafish. Epigenetics & chromatin. 13:5
- Espino-Saldaña, A.E., Durán-Ríos, K., Olivares-Hernandez, E., Rodríguez-Ortiz, R., Arellano-Carbajal, F., Martínez-Torres, A. (2020) Temporal and spatial expression of zebrafish mctp genes and evaluation of frameshift alleles of mctp2b. Gene. 738:144371
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