AFG2B
AFG2 AAA ATPase family member B
Gene Information Card
| Symbol | AFG2B |
|---|---|
| Full Name | AFG2 AAA ATPase family member B |
| Gene Type | Protein coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617433 |
| HGNC ID | HGNC:25951 |
| Aliases | SPAF, SPATA5L1, AFG2B |
Description
AFG2B encodes a member of the AAA ATPase family, involved in ribosome assembly and quality control. The protein is localized to the cytoplasm and nucleus, and mutations in this gene are associated with neurodevelopmental disorders and hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive deafness 100 | Loss-of-function mutations impair ribosome assembly in hair cells | ClinVar, OMIM |
| Neurodevelopmental disorder with hearing loss and spasticity | Biallelic missense variants disrupt ATPase activity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152C>T (p.Pro51Leu) | Missense | Rare | Likely loss of function |
| c.1003G>A (p.Gly335Arg) | Missense | Rare | Impaired ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause autosomal recessive deafness and neurodevelopmental disorders.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • ribosome assembly | • cytoplasm |
| • nucleus |
Pathways
• Ribosome biogenesis in eukaryotes
Protein Summary
AFG2B is a 789-amino acid AAA ATPase that forms a complex with AFG2A and other factors to facilitate the release of ribosome biogenesis factors during maturation. It is essential for proper ribosome function and cellular homeostasis.
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