AFG2A Chromosome 4
AAA ATPase AFG2A
Upload your DNA to see your personal genotypes for variants in AFG2A.
What This Gene Does
This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
4q28.1
Ensembl
ENSG00000145375
Associated Conditions (12)
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Inborn genetic diseases
AFG2A-related disorder
Syndromic complex neurodevelopmental disorder
SPATA5-related disorder
SPATA5-related neurodevelopmental disorder
Familial cancer of breast
Neurodevelopmental disorder
Monogenic hearing loss
Ciliary dyskinesia
primary
37
Key Variants
RS139066705
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS141576468
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS143957561
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, AFG2A-related disorder, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS147873489
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Syndromic complex neurodevelopmental disorder, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS149604630
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS150370442
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS1741466817
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS183154447
Conflicting classifications of pathogenicity
Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
Health Risk
RS199517594
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS199626476
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS201154687
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
RS201751275
Conflicting classifications of pathogenicity
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1446807404 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS1553983667 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS267600009 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS373156651 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS567175477 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS751291521 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS755744719 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS763737752 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS796051892 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS796052243 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS879782394 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, AFG2A-related disorder, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |