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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANKRD24
ankyrin repeat domain 24
Chromosome 19 Β· 19p13.3
NCBI Gene: 170961Ensembl: ENSG00000089847.14HGNC: HGNC:29424UniProt: Q8TF21
10PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sensory perception of soundauditory receptor cell stereocilium organizationplasma membranestereociliumbenign adult familial myoclonic epilepsydeafnessskull disorderautosomal recessive nonsyndromic hearing loss 9
✦AI Summary

ANKRD24 is a structural protein essential for inner ear mechanosensitivity and hearing function. As a component of the stereocilia rootlet, ANKRD24 localizes to the stereocilia insertion point where it forms a ring structure bridging the apical plasma membrane with the lower rootlet 1. ANKRD24 directly organizes and stabilizes TRIOBP-5, an F-actin bundling protein that reinforces the rootlet architecture and maintains proper stereocilia anchoring 1. In concert with taperin (TPRN), which enables F-actin bundling at stereocilia pivot points, ANKRD24 supports optimal mechanotransduction during sound-induced deflections 2. Loss of ANKRD24 function in mice results in progressive hearing loss, TRIOBP-5 mislocalization, diminished auditory recovery after noise exposure, and increased susceptibility to hair bundle overstimulation 1. Clinically, ANKRD24 mutations cause human non-syndromic hearing loss; a homozygous frameshift variant (c.1934_1937del) was identified in an Iranian family with postlingual, moderate-to-severe autosomal recessive sensorineural hearing loss, expanding the genetic spectrum of deafness 3. Beyond auditory function, ANKRD24 participates in ketone body-mediated autophagic clearance of pathological tau in Alzheimer's disease models 4.

Sources cited
1
ANKRD24 concentrates at stereocilia insertion points, binds and organizes TRIOBP-5, and is required for hearing with long-term resilience; Ankrd24 knockout mice show progressive hearing loss and increased noise susceptibility
PMID: 35175278
2
TPRN bundles F-actin at stereocilia pivot points; ANKRD24 is lost from rootlets in TPRN-deficient mice, demonstrating functional cooperation in rootlet formation
PMID: 40471101
3
Homozygous frameshift variant in ANKRD24 causes human non-syndromic hearing loss, implicating ANKRD24 in postlingual moderate-to-severe autosomal recessive sensorineural hearing loss
PMID: 39434538
4
ANKRD24 is a target gene of HMGCS2 involved in ketone body-mediated autophagic clearance of pathological tau in Alzheimer's disease
PMID: 36442191
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
benign adult familial myoclonic epilepsyOpen Targets
0.06Suggestive
deafnessOpen Targets
0.05Suggestive
skull disorderOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's crampOpen Targets
0.04Suggestive
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeOpen Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
hearing loss, autosomal recessiveOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.00Suggestive
esophageal carcinomaOpen Targets
0.00Suggestive
low grade gliomaOpen Targets
0.00Suggestive
nodular sclerosis Hodgkin lymphomaOpen Targets
0.00Suggestive
spinocerebellar ataxia type 17Open Targets
0.00Suggestive
metopic craniosynostosisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_001393985.1(ANKRD24):c.1934_1937del (p.Thr645fs)Likely pathogenic
Genetic hearing loss
β˜…β˜†β˜†β˜†2025β†’ Residue 645
View on ClinVar β†—
Related Genes
CLRN2Shared pathway100%TPRNShared pathway100%MYO3BShared pathway50%GRXCR2Shared pathway50%CEACAM16Shared pathway50%LHFPL3Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
36%
Bone Marrow
21%
Ovary
18%
Lung
6%
Heart
1%
Gene Interaction Network
Click a node to explore
ANKRD24CLRN2TPRNMYO3BGRXCR2CEACAM16LHFPL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TF21
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.07 [0.92–1.25]
RankingsWhere ANKRD24 stands among ~20K protein-coding genes
  • #16,983of 20,598
    Most Researched10
  • #5,474of 5,498
    Most Pathogenic Variants1
  • #13,243of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedANKRD24
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.
PMID: 40471101
J Cell Biol Β· 2025
1.00
2
ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points.
PMID: 35175278
J Cell Biol Β· 2022
0.75
3
A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss.
PMID: 39434538
Clin Genet Β· 2025
0.50
4
HMGCS2-Induced Autophagic Degradation of Tau Involves Ketone Body and ANKRD24.
PMID: 36442191
J Alzheimers Dis Β· 2023
0.25