MIR204

ncRNA

microRNA 204, the group of MicroRNA MIR204/211 family

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:

MIRN204

MANE transcript

N/A

Inheritance

ClinVar variants

—

Top phenotype

Retinal dystrophy and iris coloboma with or without congenital cataract

Max pathogenic AF

—

Genomic locus

chr9:70,809,975-70,810,084

External References & Databases

Ensembl (ENSG00000207935)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0014747

Submitter: Labcorp Genetics (formerly Invitae)

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0014747

Submitter: G2P

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0014747

Submitter: Ambry Genetics

familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0014747

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Retinal dystrophy and iris coloboma with or without congenital cataractAD

Manifestation: Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 26056285

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIR204 variants in ClinVar

2 Conditions Cataloged

not providedTotal: 14

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeTotal: 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

Role of Osx and miRNAs in tooth development

dbNSFP Gene Annotations

Source: dbNSFP