AFG2B — AAA ATPase AFG2B

6 sources retrieved · Most recent: April 2026 · Index updated 22 days ago

70PubMed Papers

#6,759 · top 35% of 19K genes

22Diseases

top 6%

0Drugs

21Pathogenic Variants

top 39%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

ribosomal large subunit biogenesisprotein bindingidentical protein bindingregulation of ribosome biogenesisneurodevelopmental disorder with hearing loss and spasticityhearing loss, autosomal recessive 119genetic disorderhearing loss, autosomal recessive

AI Summary

Based on limited published evidence, AFG2B is an ATP-dependent chaperone within the 55LCC heterohexameric complex that maintains replication fork progression and genome stability 1. It processes replisome substrates during S-phase through ATPase activity coupled to proteolytic cleavage, particularly in response to replication fork damage 1. AFG2B also promotes cytoplasmic maturation of pre-60S ribosomal particles by facilitating RSL24D1/RLP24 release 2. Bi-allelic AFG2B variants cause neurodevelopmental disorder with hearing loss, spasticity, and microcephaly 3, establishing its essential roles in DNA replication fidelity and ribosomal biogenesis.

Sources cited

AFG2B ATPase activity processes replisome substrates and couples to protease-dependent cleavage in response to replication fork damage

PMID: 38554706

AFG2B promotes RSL24D1/RLP24 release during pre-60S ribosomal particle maturation

PMID: 35354024

Bi-allelic AFG2B missense variants cause neurodevelopmental disorder with hearing loss, intellectual disability, and microcephaly

PMID: 37902276

⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.

Disease Associations22

neurodevelopmental disorder with hearing loss and spasticityOpen Targets

0.72Strong

hearing loss, autosomal recessive 119Open Targets

0.65Moderate

genetic disorderOpen Targets

0.45Moderate

hearing loss, autosomal recessiveOpen Targets

0.37Weak

Neurodevelopmental delayOpen Targets

0.33Weak

kidney failureOpen Targets

0.29Weak

chronic kidney diseaseOpen Targets

0.29Weak

hypertensive heart diseaseOpen Targets

0.24Weak

kidney diseaseOpen Targets

0.23Weak

COVID-19Open Targets

0.20Weak

congestive heart failureOpen Targets

0.14Weak

albuminuriaOpen Targets

0.13Weak

Abnormality of the skeletal systemOpen Targets

0.09Suggestive

musculoskeletal system diseaseOpen Targets

0.08Suggestive

benign neoplasm of eyeOpen Targets

0.07Suggestive

hair anomalyOpen Targets

0.02Suggestive

Neurodevelopmental disorderOpen Targets

0.02Suggestive

Intellectual disabilityOpen Targets

0.01Suggestive

microcephalyOpen Targets

0.01Suggestive

epilepsyOpen Targets

0.01Suggestive

Deafness, autosomal recessive, 119UniProt

Neurodevelopmental disorder with hearing loss and spasticityUniProt

Pathogenic Variants21

NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)Pathogenic

★★☆☆2025→ Residue 176

NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)Pathogenic

SPATA5L1-associated disorder|Neurodevelopmental disorder with hearing loss and spasticity|See cases|not provided|AFG2B-related disorder

★★☆☆2025→ Residue 400

NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)Likely pathogenic

See cases|Neurodevelopmental disorder with hearing loss and spasticity|not provided|Inborn genetic diseases

★★☆☆2025→ Residue 689

NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)Pathogenic

Hearing loss, autosomal recessive 119|not provided

★★☆☆2024→ Residue 207

NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met)Pathogenic

Hearing loss, autosomal recessive 119|Neurodevelopmental disorder with hearing loss and spasticity|not provided

★★☆☆2023→ Residue 466

NM_024063.3(AFG2B):c.809T>C (p.Leu270Pro)Likely pathogenic

Neurodevelopmental disorder with hearing loss and spasticity

★☆☆☆2025→ Residue 270

NM_024063.3(AFG2B):c.1924G>T (p.Gly642Ter)Likely pathogenic

not provided

★☆☆☆2025→ Residue 642

NM_024063.3(AFG2B):c.1304_1305del (p.Ile435fs)Pathogenic

Hearing loss, autosomal recessive 119

★☆☆☆2024→ Residue 435

NM_024063.3(AFG2B):c.1489_1490del (p.Gln497fs)Pathogenic

not provided

★☆☆☆2023→ Residue 497

NM_024063.3(AFG2B):c.1313T>C (p.Leu438Pro)Likely pathogenic

Neurodevelopmental disorder with hearing loss and spasticity

★☆☆☆2023→ Residue 438

NM_024063.3(AFG2B):c.734T>A (p.Val245Glu)Likely pathogenic

Neurodevelopmental disorder with hearing loss and spasticity|not provided

★☆☆☆2021→ Residue 245

NM_024063.3(AFG2B):c.190C>T (p.Arg64Trp)Likely pathogenic

Neurodevelopmental disorder with hearing loss and spasticity|not provided

★☆☆☆2021→ Residue 64

NM_024063.3(AFG2B):c.1826C>G (p.Ser609Ter)Pathogenic

Neurodevelopmental disorder with hearing loss and spasticity|not provided

★☆☆☆2021→ Residue 609

NM_024063.3(AFG2B):c.1973G>A (p.Arg658Lys)Likely pathogenic

SPATA5L1-associated disorder

★☆☆☆2020→ Residue 658

NM_024063.3(AFG2B):c.2176_2177del (p.Val726fs)Pathogenic

SPATA5L1-associated disorder

★☆☆☆2020→ Residue 726

NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg)Likely pathogenic

Neurodevelopmental disorder with hearing loss and spasticity|SPATA5L1-associated disorder

★☆☆☆2020→ Residue 669

NM_024063.3(AFG2B):c.1090-2A>GPathogenic

SPATA5L1-associated disorder

★☆☆☆2020

NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs)Pathogenic

Hearing loss, autosomal recessive 119

☆☆☆☆2023→ Residue 716

NM_024063.3(AFG2B):c.1682T>C (p.Leu561Ser)Likely pathogenic

See cases

☆☆☆☆→ Residue 561

NM_024063.3(AFG2B):c.85T>G (p.Cys29Gly)Likely pathogenic

See cases

☆☆☆☆→ Residue 29

Tissue Expression6 tissues

Ovary

100%

Bone Marrow

97%

Liver

79%

Lung

62%

Heart

61%

Brain

49%

Gene Interaction Network6 neighbors

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Structure2 PDB hits

Preparing viewer…

PDB9LGO · 3.51 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.18LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.94 [0.76–1.18]

Rankings3 dim

Where AFG2B stands among ~20K protein-coding genes

#6,695of 20,598
Most Researched70
#2,147of 5,499
Most Pathogenic Variants21
#12,371of 17,882
Most Constrained (LOEUF)1.18