AFG2B Chromosome 15
AAA ATPase AFG2B
Upload your DNA to see your personal genotypes for variants in AFG2B.
What This Gene Does
Enables identical protein binding activity and preribosome binding activity. Involved in ribosomal large subunit biogenesis. Located in cytoplasm and spindle. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000171763
Associated Conditions (9)
Inborn genetic diseases
Neurodevelopmental delay
SPATA5L1-related disorder
SPATA5L1-associated disorder
Neurodevelopmental disorder with hearing loss and spasticity
See cases
Hearing loss
autosomal recessive 119
AFG2B-related disorder
Key Variants
RS148815842
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS747249958
Conflicting classifications of pathogenicity
Neurodevelopmental delay, SPATA5L1-related disorder, Inborn genetic diseases
Health Risk
RS757503048
Conflicting classifications of pathogenicity
SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity, SPATA5L1-associated disorder
Health Risk
RS1212383243
Likely pathogenic
Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
Health Risk
RS1230836596
Likely pathogenic
Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
Health Risk
RS1480279583
Likely pathogenic
Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
Health Risk
RS1890623871
Likely pathogenic
SPATA5L1-associated disorder, SPATA5L1-associated disorder
Health Risk
RS1890625577
Likely pathogenic
Neurodevelopmental disorder with hearing loss and spasticity, SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity
Health Risk
RS2140692680
Likely pathogenic
See cases, See cases
Health Risk
RS2140721648
Likely pathogenic
See cases, See cases
Health Risk
RS767220705
Likely pathogenic
See cases, See cases
Health Risk
RS777812455
Likely pathogenic
See cases, Neurodevelopmental disorder with hearing loss and spasticity, Inborn genetic diseases
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148815842 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747249958 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, SPATA5L1-related disorder, Inborn genetic diseases |
| RS757503048 | Health Risk | Conflicting classifications of pathogenicity | SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity, SPATA5L1-associated disorder |
| RS1212383243 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity |
| RS1230836596 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity |
| RS1480279583 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity |
| RS1890623871 | Health Risk | Likely pathogenic | SPATA5L1-associated disorder, SPATA5L1-associated disorder |
| RS1890625577 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hearing loss and spasticity, SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity |
| RS2140692680 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2140721648 | Health Risk | Likely pathogenic | See cases, See cases |
| RS767220705 | Health Risk | Likely pathogenic | See cases, See cases |
| RS777812455 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with hearing loss and spasticity, Inborn genetic diseases |
| RS1890710370 | Health Risk | Pathogenic | SPATA5L1-associated disorder, SPATA5L1-associated disorder |
| RS747177622 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 119, Hearing loss |
| RS763343580 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 119, Hearing loss |
| RS778481503 | Health Risk | Pathogenic | Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity |
| RS779907001 | Health Risk | Pathogenic | SPATA5L1-associated disorder, SPATA5L1-associated disorder |
| RS1372719653 | Health Risk | Pathogenic/Likely pathogenic | SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity, See cases |
| RS145451123 | Health Risk | Pathogenic/Likely pathogenic | SPATA5L1-associated disorder, Hearing loss, autosomal recessive 119 |
| RS34675173 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 119, Neurodevelopmental disorder with hearing loss and spasticity |
| RS765912979 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 119, Hearing loss |