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Gene

AFG2B

AAA ATPase AFG2B

Summary

Cytogenetic location
15q21.1
Coordinates
Chromosome 15: 45,402,336–45,421,415 (GRCh38)
Exons
8 exons across 19.1 kb
Protein
753 amino acids
Also known as
MGC5347, FLJ12286
Previous symbols
SPATA5L1
MANE Select transcript
ENST00000305560.11NM_024063.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Hearing Loss and Deafness

      • Nonsyndromic Genetic Hearing Loss

        One of 97 genes linked to it

        Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

        • 2 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

    How AFG2B is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 15, with a bracket where AFG2B sits. AFG2B and 14 genes near it on chromosome 15, from 44,911,876 to 45,911,875.Chromosome 1515q21.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.345 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbTERB2: 44,956,687–44,979,229, forward strandTERB2SORD: 45,023,116–45,077,185, forward strandSORDDUOX2: 45,092,650–45,114,185, reverse strandDUOX2DUOXA2: 45,114,325–45,118,421, forward strandDUOXA2DUOXA1: 45,117,364–45,130,611, reverse strandDUOXA1DUOX1: 45,129,450–45,165,576, forward strandDUOX1SHF: 45,165,572–45,201,175, reverse strandSHFSLC28A2: 45,252,227–45,277,846, forward strandSLC28A2GATM: 45,333,479–45,402,327, reverse strandGATMAFG2B: 45,402,336–45,421,415, forward strandAFG2BCOXFA4L3: 45,430,579–45,448,761, forward strandCOXFA4L3SLC30A4: 45,479,606–45,522,834, reverse strandSLC30A4BLOC1S6: 45,587,108–45,615,945, forward strandBLOC1S6: 45,587,351–45,676,314, forward strandSQOR: 45,631,148–45,691,299, forward strandSQORDiagram of AFG2B: 8 exons on the forward strand of chromosome 15Exon 1: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 1: 45,402,336–45,403,518, 1,183 basesExon 2: 45,405,320–45,405,505, 186 basesExon 3: 45,410,372–45,410,530, 159 basesExon 4: 45,414,571–45,414,780, 210 basesExon 5: 45,415,587–45,415,779, 193 basesExon 6: 45,417,269–45,417,399, 131 basesExon 7: 45,418,557–45,418,682, 126 basesExon 8: 45,421,043–45,421,415, 373 bases123456785′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2.6 kb of the gene's 19.1 kb; 2,262 of those bases code for the protein.

    How a genome test reads AFG2B

    8

    positions in AFG2B where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 19.1 kb of AFG2B, introns included, not only the 2.6 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). AFG2B gene: AAA ATPase AFG2B. Retrieved 16 October 2026, from https://dantelabs.com/genes/afg2b

    Vancouver

    Dante Labs. AFG2B gene: AAA ATPase AFG2B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/afg2b

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