MINAR2

protein-coding

membrane integral NOTCH2 associated receptor 2

Gene summary

Enables cholesterol binding activity. Involved in angiogenesis. Located in endoplasmic reticulum. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1024L

MANE transcript

NM_001257308.2

Inheritance

ClinVar variants

P:3U:1B:7

Top phenotype

Deafness, autosomal recessive 120

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr5:129,748,094-129,766,732

External References & Databases

Ensembl (ENSG00000186367)

NCBI Gene (100127206)

Transcript & Mutation Effects

hg38 • Region Span ~18.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

hearing loss, autosomal recessive 120STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859374

Submitter: ClinGen

MINAR2 was first reported in relation to autosomal recessive nonsyndromic hearing loss (DFNB120) in 2022 (Bademci et al., PMID: 35727972). Four variants (frameshift, nonsense, missense) that have been reported in four probands in two publications (PMIDs: 35727972, 41130944) are included in this curation. One family was reported with six segregations. The mechanism of pathogenicity appears to be loss of function, as a loss of function mouse model resulted in elevated ABR and DPOAE thresholds (PMID: 35727972). This gene-disease relationship is also supported by a loss of function mouse model that recapitulates the human phenotype, expression data showing that MINAR2 is highly expressed in the cochlea (PMID: 35727972), and a study showing that loss of MINAR2 reduces reduces cholesterol localization to the inner ear hair bundles in zebrafish (PMID: 36317962). In summary, there is strong evidence to support the relationship between MINAR2 and autosomal recessive nonsyndromic hearing loss. Three years must elapse from the first proposal of the assertion to reach a definitive classification without any valid contradictory evidence. We will re-evaluate this gene-disease relationship at that time to determine if an upgraded classification of definitive is warranted.

hearing loss, autosomal recessive 120STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859374

Submitter: PanelApp Australia

hearing loss, autosomal recessive 120LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859374

Submitter: Ambry Genetics

Clinical Genomic Database (CGD)

Deafness, autosomal recessive 120AR

Manifestation: Audiologic/Otolaryngologic

Intervention: Audiologic/Otolaryngologic

Rationale: Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development

Refs: 35727972

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MINAR2 variants in ClinVar

3 Conditions Cataloged

MINAR2-related conditionTotal: 6

not providedTotal: 3

Hearing loss, autosomal recessive 120Total: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001257308.2. 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				3 clinvar		3
missense	1 clinvar		1 clinvar	4 clinvar		6
nonsense	1 clinvar					1
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)						0
Total	3	0	1	7	0	11

Highest pathogenic variant AF is 7.2319443e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001257308.2	RefSeq	NP_001244237.1	3	MANE Select
ENST00000564719.2	Ensembl	ENSP00000454268.1	3	MANE Select

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000564719
Coding exons: 3
Length: 18654
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.673	67	84.4	0.794	0.00000410	1238
Missense (PolyPhen)		22	26.037	0.84495		408
Synonymous	1.14	24	32.2	0.744	0.00000167	363
Loss of Function	0.689	5	6.96	0.718	3.93e-7	95

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP