MIR12114

Summary

MIR12114 (microRNA 12114, HGNC:54022) is a gene on chromosome 22q13.33.

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 113218480 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54022
Approved symbol	MIR12114
Name	microRNA 12114
Location	22q13.33
Locus type	RNA, micro
Status	Approved
Aliases	hsa-mir-12114
Entrez	113218480
RNAcentral	URS0000D51B4C — miRNA, 83 nt, 1 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

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
976869	NC_000022.11:g.46489644_50806138del	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001065188 (22:50406998 T>C,G), RS1002428100 (22:50406462 T>C), RS1003098347 (22:50406633 C>T), RS1003433804 (22:50408024 C>T), RS1003922006 (22:50407368 A>C), RS1005532600 (22:50406396 A>G), RS1005999188 (22:50405487 C>A,T), RS1007390215 (22:50407276 G>A), RS1010190346 (22:50406546 G>A), RS1011577109 (22:50406973 G>A,T), RS1012206513 (22:50407218 G>A), RS1013456323 (22:50407790 C>T), RS1015546080 (22:50407198 T>A), RS1016918043 (22:50406412 C>G), RS1017138003 (22:50405525 G>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:606232

GenCC curated gene-disease

Mondo (1): Phelan-McDermid syndrome (MONDO:0011652)

Orphanet (1): Phelan-McDermid syndrome (Orphanet:48652)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536801	Telomeric 22q13 Monosomy Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07281079	PHASE3	RECRUITING	A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
NCT07593391	PHASE3	RECRUITING	An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
NCT01525901	PHASE2	COMPLETED	Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
NCT02710084	PHASE2	COMPLETED	Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
NCT03493607	PHASE2	COMPLETED	AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
NCT04003207	PHASE2	COMPLETED	Growth Hormone Treatment in Children With Phelan McDermid Syndrome
NCT05025241	PHASE2	COMPLETED	An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
NCT05187377	PHASE2	COMPLETED	A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism
NCT05105685	PHASE1/PHASE2	COMPLETED	Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS
NCT06662188	PHASE1/PHASE2	RECRUITING	JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
NCT02000167	Not specified	COMPLETED	Mitochondrial Dysfunction in Phelan-McDermid Syndrome
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT03426059	Not specified	COMPLETED	Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
NCT03836300	Not specified	ENROLLING_BY_INVITATION	Parent and Infant Inter(X)Action Intervention (PIXI)
NCT04312152	Not specified	UNKNOWN	Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome.
NCT07014020	Not specified	RECRUITING	RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)