MIR9718

Summary

MIR9718 (microRNA 9718, HGNC:53988) is a gene on chromosome 14q23.1.

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.

Source: NCBI Gene 113218481 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 20 total — 3 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53988
Approved symbol	MIR9718
Name	microRNA 9718
Location	14q23.1
Locus type	RNA, micro
Status	Approved
Aliases	hsa-mir-9718
Entrez	113218481
RNAcentral	URS0000D52417 — ncRNA, 64 nt, 10 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

20 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	11
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1805006	NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)	Likely pathogenic
4280674	NM_005982.4(SIX1):c.513G>A (p.Trp171Ter)	Likely pathogenic
4829481	NM_005982.4(SIX1):c.534A>T (p.Arg178Ser)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001409064 (14:60649081 G>A,C), RS1005818788 (14:60647107 G>A,C), RS1005853523 (14:60648141 T>C), RS1005929182 (14:60646742 C>G,T), RS1005996340 (14:60646697 T>C), RS1007636965 (14:60647851 G>T), RS1007667970 (14:60648079 A>G,T), RS1008319657 (14:60648432 G>A), RS1009804624 (14:60649117 C>A,T), RS1010162546 (14:60647797 G>T), RS1010466700 (14:60648711 G>A,T), RS1012576979 (14:60647132 A>T), RS1013124635 (14:60646679 G>A,C,T), RS1013488621 (14:60647759 G>A), RS1014252697 (14:60648424 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:605192, MIM:608389, MIM:125000, MIM:113650, MIM:120502

GenCC curated gene-disease

Mondo (5): autosomal dominant nonsyndromic hearing loss 23 (MONDO:0011519), branchiootic syndrome 3 (MONDO:0012025), deafness, unilateral (MONDO:0007426), branchio-oto-renal syndrome (MONDO:0007029), branchiootic syndrome 2 (MONDO:0007360)

Orphanet (2): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), BOR syndrome (Orphanet:107)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D019280	Branchio-Oto-Renal Syndrome	C16.131.077.208; C16.131.260.090; C16.320.180.090
C565171	Branchiootic Syndrome 2 (supp.)
C564248	Branchiootic Syndrome 3 (supp.)
C565357	Deafness, Autosomal Dominant 23 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

2 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04899037	Not specified	RECRUITING	Pilot Study to Evaluate the Long-term Chronic Care of Patients Who Could or do Utilize an Osseointegrated Device (OID)
NCT05318417	Not specified	RECRUITING	Investigation to Evaluate the Safety and Effectiveness of Cochlear Implantation in Children and Adults With Unilateral Hearing Loss/Single-sided Deafness