| Name | AFG2 AAA ATPase homolog A |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAFG2A, also known as SPATA5, encodes a ubiquitously expressed AAA ATPase that plays a key role in mitochondrial morphogenesis and neuronal differentiation. Mutations in this gene have been linked to a broad spectrum of neurodevelopmental disorders—including microcephaly, developmental delay, intellectual disability, seizures, and sensorineural hearing loss—and a genome‐wide association study has even implicated noncoding variants at the SPATA5 locus in tissue‐specific autoimmune conditions such as alopecia areata."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in neurodevelopment, AFG2A is a member of the spermatogenesis‐associated protein family, with studies suggesting that these proteins contribute to sperm maturation and overall fertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMore recently, unbiased functional screens have revealed a novel role for AFG2A in ribosome biogenesis. In particular, AFG2A, acting in concert with associated factors, regulates a critical late cytoplasmic maturation step of the pre‑60S ribosomal subunit, with its disruption leading to impaired global protein synthesis. Complementary genome‐wide analyses have further underscored its importance as a regulatory nexus in coordinating aspects of ribosome production with cellular developmental and environmental signals."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Lina M Forstbauer, Felix F Brockschmidt, Valentina Moskvina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2011.185"}], "href": "https://doi.org/10.1038/ejhg.2011.185"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22027810"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22027810"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Akemi J Tanaka, Megan T Cho, Francisca Millan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2015.07.014"}], "href": "https://doi.org/10.1016/j.ajhg.2015.07.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26299366"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26299366"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "H Kurata, H Terashima, M Nakashima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of SPATA5-related encephalopathy in early childhood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12813"}], "href": "https://doi.org/10.1111/cge.12813"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27246907"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27246907"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Krzysztof Szczałuba, Krystyna Szymańska, Joanna Kosińska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Exp Med Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/5584_2016_206"}], "href": "https://doi.org/10.1007/5584_2016_206"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28293831"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28293831"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kumar Mohanty Sujit, Vertika Singh, Sameer Trivedi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Andrology (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/andr.12742"}], "href": "https://doi.org/10.1111/andr.12742"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31838782"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31838782"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Stuart K Kim, Megan D Roche, Michael Fredericson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Genome-wide Association Study for Concussion Risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Sports Exerc (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1249/MSS.0000000000002529"}], "href": "https://doi.org/10.1249/MSS.0000000000002529"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33017352"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33017352"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Chunyang Ni, Daniel A Schmitz, Jeon Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2022.110597"}], "href": "https://doi.org/10.1016/j.celrep.2022.110597"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35354024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35354024"}]}]}]}
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| NCBI Gene ID | 166378 |
| API | |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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AFG2A has 1,929 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 25 datasets.
Click the + buttons to view associations for AFG2A from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of AFG2A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with AFG2A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of AFG2A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing AFG2A protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing AFG2A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing AFG2A protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with AFG2A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DGIdb Drug Targets 2026 | interacting drugs for AFG2A protein from the DGIdb Drug Targets 2026 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving AFG2A gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing AFG2A protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by AFG2A gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with AFG2A gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of AFG2A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of AFG2A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving AFG2A protein from the KEGG Pathways 2026 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of AFG2A gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of AFG2A gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of AFG2A gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of AFG2A gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of AFG2A gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of AFG2A gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of AFG2A gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of AFG2A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of AFG2A protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with AFG2A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
