MIR3690

Summary

MIR3690 (microRNA 3690, HGNC:38967) is a gene on chromosome Xp22.32 and Yp11.3.

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 100500894 — RefSeq curated summary.

At a glance

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

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:38967
Approved symbol	MIR3690
Name	microRNA 3690
Location	Xp22.32 and Yp11.3
Locus type	RNA, micro
Status	Approved
Aliases	hsa-mir-3690, hsa-mir-3690-2
Entrez	100500894
RNAcentral	URS0000759E83 — miRNA, 75 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: 2 (showing top): chrXp22, chrYp11

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
10354	NG_012280.1:g.(22122_24720)(45680?)del	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS111232301 (X:1294181 C>A,G,T), RS111278186 (X:1293221 G>GTTTC,GTTTT), RS111311869 (X:1293135 G>A,T), RS111506546 (X:1293850 C>G), RS111754449 (X:1293784 C>A,G,T), RS111931802 (X:1293764 G>A,C), RS111983341 (X:1294246 G>A), RS112338692 (X:1293751 A>C,G), RS112354498 (X:1294158 T>A), RS112526800 (X:1293793 C>A,T), RS112609863 (X:1293688 G>A,T), RS112711088 (X:1294269 G>A), RS112967637 (X:1294175 C>G), RS113694829 (X:1293779 G>A), RS113843011 (X:1294136 T>A,C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:300770

GenCC curated gene-disease

Mondo (1): surfactant metabolism dysfunction, pulmonary, 4 (MONDO:0010424)

Orphanet (1): Hereditary pulmonary alveolar proteinosis (Orphanet:264675)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567461	Surfactant Metabolism Dysfunction, Pulmonary, 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

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