Gene
chd7
- ID
- ZDB-GENE-070912-179
- Name
- chromodomain helicase DNA binding protein 7
- Symbol
- chd7 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity. Involved in myelination and neuron development. Acts upstream of or within several processes, including embryonic organ development; mesenchymal cell differentiation; and nervous system development. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including central nervous system; digestive system; gonad; musculature system; and somite. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in CHARGE syndrome; hypogonadotropic hypogonadism 5 with or without anosmia; and idiopathic scoliosis. Orthologous to human CHD7 (chromodomain helicase DNA binding protein 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 77 figures from 17 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ah517 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| ck004a | Allele with one deletion | Exon 2 | Unknown | zinc finger nuclease | |
| hsi3 | Allele with one deletion | Exon 2 | Frameshift | CRISPR | |
| iaf17 | Allele with one insertion | Unknown | Frameshift, Premature Stop | CRISPR | |
| la011094Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la014852Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la023507Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la023508Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la028757Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| ncu101 | Allele with one deletion | Exon 9 | Frameshift, Premature Stop | not specified |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| CHARGE syndrome | Alliance | CHARGE syndrome | 214800 |
| hypogonadotropic hypogonadism 5 with or without anosmia | Alliance | Hypogonadotropic hypogonadism 5 with or without anosmia | 612370 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BRK domain | BRK domain superfamily | Chromo/chromo shadow domain | Chromo domain | Chromodomain-helicase-DNA-binding | Chromo-like domain superfamily | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QGL1
|
3140 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-chd7 | polyclonal | IgG | Rabbit |
|
Boster Biological
|
2 | |
| Ab1-chd7 | polyclonal | IgG | Rabbit |
|
Santa Cruz Biotechnology, Inc.
|
2 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-197O6 | ZFIN Curated Data | |
| Encodes | EST | cegs2051 | Rauch et al., 2003 | |
| Encodes | EST | fb37f10 | ||
| Encodes | EST | fb39h04 | ||
| Encodes | EST | fd19h06 | ||
| Has Artifact | EST | fc87d04 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_692864 (1) | 10911 nt | ||
| Genomic | GenBank:CR450710 (2) | 201624 nt | ||
| Polypeptide | UniProtKB:F1QGL1 (1) | 3140 aa |
- Breuer, M., Rummler, M., Singh, J., Maher, S., Zaouter, C., Jamadagni, P., Pilon, N., Willie, B.M., Patten, S.A. (2024) CHD7 regulates craniofacial cartilage development via controlling HTR2B expression. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 39(4):498-512
- Hodorovich, D.R., Fryer Harris, T., Burton, D.F., Neese, K.M., Bieler, R.A., Chudasama, V., Marsden, K.C. (2024) Effects of 4 Testing Arena Sizes and 11 Types of Embryo Media on Sensorimotor Behaviors in Wild-Type and chd7 Mutant Zebrafish Larvae. Zebrafish. 21(1):1-14
- Hodorovich, D.R., Lindsley, P.M., Berry, A.A., Burton, D.F., Marsden, K.C. (2023) Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent. Genes, brain, and behavior. 22(3):e12839
- MacLean, J.E., Wertman, J.N., Prykhozhij, S.V., Chedrawe, E., Langley, S., Steele, S.L., Ban, K., Blake, K., Berman, J.N. (2023) phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes. Genes. 14(5):
- Shi, L., Wang, Z., Li, Y., Song, Z., Yin, W., Hu, B. (2023) Deletion of the chd7 Hinders Oligodendrocyte Progenitor Cell Development and Myelination in Zebrafish. International Journal of Molecular Sciences. 24(17):
- 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
- Krueger, L.A., Bills, J.D., Lim, Z.Y., Skidmore, J.M., Martin, D.M., Morris, A.C. (2022) Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length. Experimental Eye Research. 226:109299
- Sun, Y., Kumar, S.R., Wong, C.E.D., Tian, Z., Bai, H., Crump, J.G., Bajpai, R., Lien, C.L. (2022) Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome. Frontiers in cell and developmental biology. 10:10305871030587
- Fazio, M., van Rooijen, E., Dang, M., van de Hoek, G., Ablain, J., Mito, J.K., Yang, S., Thomas, A., Michael, J., Fabo, T., Modhurima, R., Pessina, P., Kaufman, C.K., Zhou, Y., White, R.M., Zon, L.I. (2021) SATB2 induction of a neural crest mesenchyme-like program drives melanoma invasion and drug resistance. eLIFE. 10:
- Jamadagni, P., Breuer, M., Schmeisser, K., Cardinal, T., Kassa, B., Parker, J.A., Pilon, N., Samarut, E., Patten, S.A. (2021) Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression. EMBO reports. 22(6):e50958
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