AFG2B AFG2 AAA ATPase homolog B
Gene ID: 79029, updated on 5-Mar-2024Gene type: protein coding
Also known as: NEDHLS; DFNB119; SPATA5L1
- See all available tests in GTR for this gene
- Go to complete Gene record for AFG2B
- Go to Variation Viewer for AFG2B variants
Summary
Predicted to enable ATP binding activity. Located in cytoplasm and spindle. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hearing loss, autosomal recessive 119 | See labs |
| Multiple loci associated with indices of renal function and chronic kidney disease. GeneReviews: Not available | |
| Neurodevelopmental disorder with hearing loss and spasticity | See labs |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
| Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. GeneReviews: Not available |
Genomic context
- Location:
- 15q21.1
- Sequence:
- Chromosome: 15; NC_000015.10 (45402336..45421415)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AFG2B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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
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