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CILD47
Chr 1ARtumor protein p73
Also known as: CILD47, P73
This gene encodes a member of the p53 family of transcription factors that regulates cellular stress responses and development. Mutations cause autosomal recessive primary ciliary dyskinesia type 47 and lissencephaly, affecting both respiratory cilia function and brain development. The combination of ciliary dysfunction and cortical malformation represents a rare phenotype involving both pulmonary and central nervous systems.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CILD47?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CILD47 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for CILD47
External Resources
Links to major genomics databases and tools