NUMBL NUMB like endocytic adaptor protein
Gene ID: 9253, updated on 4-Aug-2024Gene type: protein coding
Also known as: NBL; CAG3A; CTG3a; NUMBR; NUMB-R; TNRC23; NUMBLIKE
- See all available tests in GTR for this gene
- Go to complete Gene record for NUMBL
- Go to Variation Viewer for NUMBL variants
Summary
Involved in cytokine-mediated signaling pathway and protein metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide association study identifies three new risk loci for Kawasaki disease. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (40665905..40690651, complement)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for NUMBL variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.