AFG2B

Chr 15

AAA ATPase AFG2B

Also known as: DFNB119, NEDHLS, SPATA5L1

NCBI Gene: 79029 ENSG00000171763 UniProt: Q9BVQ7

This protein functions as an ATP-dependent chaperone essential for ribosomal large subunit biogenesis and maintains replication fork progression and genome stability as part of a chromatin-associated ATPase complex. Mutations cause autosomal recessive nonsyndromic deafness and a neurodevelopmental disorder with hearing loss and spasticity. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

Enables identical protein binding activity and preribosome binding activity. Involved in DNA replication; regulation of ribosome biogenesis; and ribosomal large subunit biogenesis. Located in cytoplasm; nucleus; and spindle. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 119

UniProtNeurodevelopmental disorder with hearing loss and spasticity

Clinical highlights

Gene-disease validity (ClinGen)

hearing loss, autosomal recessive 119 · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.07

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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