MIR96

ncRNA

microRNA 96, the group of MicroRNAs

Gene summary

microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

Previous symbols:

MIRN96
DFNA50

MANE transcript

N/A

Inheritance

ClinVar variants

—

Top phenotype

Deafness, autosomal dominant 50

Max pathogenic AF

—

Genomic locus

chr7:129,774,692-129,774,769

External References & Databases

Ensembl (ENSG00000199158)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

nonsyndromic genetic hearing lossMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0019497

Submitter: ClinGen

MIR96 was first reported in relation to autosomal dominant nonsyndromic hearing loss in 2009 (Mencía et al., PMID: 19363479). Three variants (single nucleotide changes in microRNA) that have been reported in three probands in two publications (PMIDs: 19363479, 22038834) are included in this curation. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression studies in mouse ear hair cells, biochemical function demonstrating the role of MIR96 as a regulator of genes involved in hearing, and multiple model systems replicating the human phenotype (PMIDs: 19363478, 21245307, 25759012, 26988146, 29325119, 29476110). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This gene-disease pair was originally evaluated by the Hearing Loss GCEP on March 11, 2020. It was reevaluated on September 20, 2023. As a result of this reevaluation, the classification did not change due to a lack of new evidence.

autosomal dominant nonsyndromic hearing loss 50MODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0013114

Submitter: PanelApp Australia

autosomal dominant nonsyndromic hearing loss 50MODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0013114

Submitter: G2P

autosomal dominant nonsyndromic hearing loss 50STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0013114

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Deafness, autosomal dominant 50AD

Manifestation: Audiologic/Otolaryngologic

Intervention: Audiologic/Otolaryngologic

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

Comments: Hearing loss was progressive, and was described in the earliest reported affected at 12 years in one family, while it occurred as early as 2-3 years of age in another family

Refs: 14757864; 19363479

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIR96 variants in ClinVar

4 Conditions Cataloged

not providedTotal: 6

not specifiedTotal: 2

Autosomal dominant nonsyndromic hearing loss 50Total: 2

Hearing impairmentTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

MicroRNAs in cancer - Homo sapiens (human)

dbNSFP Gene Annotations

Source: dbNSFP