ANKRD24

protein-coding

ankyrin repeat domain 24, the group of Ankyrin repeat domain containing

Gene summary

Predicted to enable actin binding activity. Predicted to be involved in auditory receptor cell stereocilium organization and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be part of stereocilium. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001393985.1

Inheritance

ClinVar variants

P:1U:220B:14

Top phenotype

Genetic hearing loss

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr19:4,182,689-4,224,814

External References & Databases

Ensembl (ENSG00000089847)

Transcript & Mutation Effects

hg38 • Region Span ~42.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

sensorineural hearing loss disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0020678

Submitter: Ambry Genetics

sensorineural hearing loss disorderMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0020678

Submitter: LiferaOmics

Genetic evidence – Published PMID: 39434538 — 1 consanguineous family with AR nonsyndromic SNHL; homozygous frameshift variant ANKRD24 c.1934_1937del (p.Thr645Lysfs*52) reported to segregate with HL. Case-level points (1 proband, biallelic predicted null/frameshift, phenotype consistent) = 1.0 Segregation = 0.5 Case-control = 0 Published genetic evidence total = 1.5 / 12 Genetic evidence – our current cases Family 1: 1 affected individual, homozygous NM_133475.1:c.1796_1799del (frameshift; predicted null); consanguinity; no other affected relatives; no segregation. Family 2: 1 affected individual, homozygous NM_133475.1:c.1796_1799del (same variant); consanguinity; no other affected relatives; no segregation. Case-level points = 1.0 + 1.0 = 2.0 (two independent probands, predicted null, AR) Segregation = 0 Case-control = 0 Our case contribution = 2.0 / 12 Genetic evidence total (published + our cases) = 3.5 / 12 Experimental evidence – Published PMID: 35175278 — Ankrd24 knockout mice show progressive hearing loss and cochlear hair-cell/rootlet localization; functional interaction/organization with TRIOBP described. Animal model (KO with HL phenotype) = 2.5 Expression/localization in relevant tissue (hair cells/rootlets) = 0.5 Functional/biological role consistent with auditory stereocilia/rootlet integrity = 0.5 Experimental evidence total = 3.5 / 6 Overall score = 7.0 points

sensorineural hearing loss disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0020678

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANKRD24 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 228

not providedTotal: 4

Genetic hearing lossTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393985.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	3 clinvar		4
missense			217 clinvar	11 clinvar		228
nonsense			1 clinvar			1
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	1	220	14	0	235

Highest pathogenic variant AF is 0.000019211153

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393985.1	RefSeq	NP_001380914.1	21	MANE Select
ENST00000318934.9	Ensembl	ENSP00000321731.4	21	MANE Select
NM_001393552.1	RefSeq	NP_001380481.1	22	Standard
NM_001393553.1	RefSeq	NP_001380482.1	21	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000600132
Coding exons: 21
Length: 41461
Individuals with no LoFs: 124634
Homozygous LoFs: 0
Heterozygous LoFs: 94
Defined: 124728
p: 0.000377

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.541	538	575	0.936	0.0000352	7068
Missense (PolyPhen)		125	127.64	0.97934		1477
Synonymous	0.372	242	249	0.970	0.0000172	2361
Loss of Function	2.11	32	47.7	0.671	0.00000245	584

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00067	0.00064	rare
Latino/Admixed American	0.00095	0.00070	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00030	0.00022	rare
Finnish	0.00010	0.000093	rare
European (Non-Finnish)	0.00040	0.00030	rare
South Asian	0.00064	0.00052	rare
Other	0.0012	0.00066	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0823

Intolerance Scores

LoFtool: 0.852
RVIS EVS: 1.88
RVIS percentile EVS: 97.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.439

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium