RMRP

Summary

RMRP (RNA component of mitochondrial RNA processing endoribonuclease, HGNC:10031) is a gene on chromosome 9p13.3.

This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.

Source: NCBI Gene 6023 — RefSeq curated summary.

At a glance

• Gene type: non-coding (ribozyme) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10031
Approved symbol	RMRP
Name	RNA component of mitochondrial RNA processing endoribonuclease
Location	9p13.3
Locus type	RNA, misc
Status	Approved
Aliases	RMRPR, RRP2, NME1
Ensembl gene	ENSG00000277027
Ensembl biotype	ribozyme
OMIM	157660
Entrez	6023
RNAcentral	URS00026A2211 — ncRNA, 270 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 ribozyme

ENST00000363046

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000363046 — 1 exons

Exon	Start	End
ENSE00001437809	35657750	35658019

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 99.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 309.5830 / max 10321.3815, expressed in 1819 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100598	309.5830	1819

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.99	gold quality
colonic epithelium	UBERON:0000397	99.98	gold quality
bone marrow cell	CL:0002092	99.97	gold quality
adrenal tissue	UBERON:0018303	99.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.31	gold quality
primary visual cortex	UBERON:0002436	98.73	gold quality
superior frontal gyrus	UBERON:0002661	98.18	gold quality
tonsil	UBERON:0002372	89.92	gold quality
cortex of kidney	UBERON:0001225	89.82	gold quality
blood	UBERON:0000178	88.22	gold quality
monocyte	CL:0000576	87.91	gold quality
bone marrow	UBERON:0002371	87.71	gold quality
skeletal muscle tissue	UBERON:0001134	87.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.60	gold quality
leukocyte	CL:0000738	86.46	gold quality
kidney	UBERON:0002113	86.21	gold quality
liver	UBERON:0002107	84.90	gold quality
cortical plate	UBERON:0005343	83.86	gold quality
ventricular zone	UBERON:0003053	81.37	gold quality
ganglionic eminence	UBERON:0004023	80.48	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.38	gold quality
mucosa of transverse colon	UBERON:0004991	79.58	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.52	gold quality
adult mammalian kidney	UBERON:0000082	79.19	gold quality
putamen	UBERON:0001874	78.44	gold quality
cerebellar cortex	UBERON:0002129	77.97	gold quality
cerebellum	UBERON:0002037	77.95	gold quality
urinary bladder	UBERON:0001255	77.73	gold quality
caudate nucleus	UBERON:0001873	77.39	gold quality
frontal cortex	UBERON:0001870	77.13	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant (PMID:11940090)
• The A70G “Finnish” mutation is found in the same haplotype in non-Finnish families, and so all likely arose from a single event. (PMID:12107819)
• there is a marked diversity of mutations in RMRP; the low homozygosity rate in a patient population indicates that cartilage-hair hypoplasia is more common than previously estimated (PMID:16244706)
• RMRP gene mutations affect rRNA and mRNA cleavage. mRNA cleavage function leads to a progression of cells from mitosis to G1 Phase by a cleavage of Cylcin B2 mRNA at the end of mitosis.The rRNA cleavage function, cleaving the 5.8S rRNA upstream spacer. (PMID:16252239)
• While mutations in the promoter abolished transcription in vitro, RMRP RNA levels in Cartilage-hair hypoplasia patients with transcribed mutations were also decreased suggesting an unstable RNA. (PMID:16254002)
• 11 Japanese patients with Cartilage-hair hypoplasia (CHH) were screened for ribonuclease mitochondrial RNA processing (RMRP) mutations and mutations were identified in five probands, including three novel mutations. (PMID:16832578)
• RMRP mutations in cartilage-hair hypoplasia. (PMID:16838329)
• a clear association between RMRP mutations and aplastic anemia was not identified (PMID:17489853)
• The position and the functional effect of 13 mutations in patients with variable features of the cartilage hair hypoplasia -anauxetic dysplasia spectrum were analysed. (PMID:17701897)
• both promoter and transcribed Cartilage hair hypoplasia mutations lower the expression level of RMRP; reduced transcription was correlated with greater instability of mutant RMRP transcripts (PMID:17937437)
• Mutations in RMRP gene is associated with cartilage-hair hypoplasia (PMID:18540246)
• Investigated a family affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being pathogenic in this family. (PMID:18553549)
• Mutations in RMRP are not a cause of Schimke immuno-osseous dysplasia. (PMID:18627050)
• severe immunodeficiency was the only phenotypic manifestation associated with RMRP mutations, a novel finding. Mutations leading to significant immune defects were most often located in the promoter (PMID:18804272)
• mutations result in cartilage-hair hypoplasia (PMID:18978468)
• identification of a RNA-dependent RNA polymerase composed of TERT in complex with RMRP (PMID:19701182)
• Two novel mutations (g.68_69delinsTT and g.76C>T) were observed in the RMRP gene of a patient diagnosed with cartilage hair hypoplasia associated with severe short stature and a full-blown antibody deficiency. (PMID:20538026)
• Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with cartilage-hair hypoplasia. (PMID:21813924)
• The results described here suggest that the endo-siRNA uses silencing mechanisms that are similar to those used by microRNAs for gene silencing. (PMID:23629666)
• Alterations RMRP-S1 and -S2, caused by point mutations in RMRP, are strongly implicated in the molecular mechanism of human cartilage-hair hypoplasia. (PMID:24009312)
• RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations. (PMID:25663137)
• we have identified RMRP as a common target gene of the Wnt and Hippo signaling pathways which could enhance the tumorigenic potential of cancer cells (PMID:26415221)
• RMRP plays a crucial role in gastric cancer occurrence and can be used as a novel biomarker for gastric cancer (PMID:27192121)
• Our data proved that RMRP acted as an oncogene LncRNA to promote the expression of KRAS, FMNL2 and SOX9 by inhibiting miR-206 expression in lung cancer. These data suggested that RMRP might serve as a therapeutic target in lung adenocarcinoma (PMID:27906963)
• We report 4 Finnish patients with cartilage-hair hypoplasia (CHH), sharing identical genotype: compound heterozygosity for RMRP mutations g.70A>G and dupTACTCTGTGA at position -13. Three of the patients showed exceptionally mild growth retardation for CHH, one of them even had normal height until age 12.5 years. (PMID:28094436)
• a role for RNase MRP in human pre-rRNA processing is established (PMID:28115465)
• this study shows that telomere length and telomerase activity are impaired in primary lymphocyte subsets from patients with cartilage-hair hypoplasia . Notably, telomerase activity is affected in a gene dose-dependent manner when comparing heterozygote RMRP carriers with patients with cartilage-hair hypoplasia (PMID:28126377)
• These results suggested that lncRNA-RMRP promoted the progression of intervertebral disc degeneration (IDD) through targeting miR-206, providing an attractive new therapeutic approach for the treatment of IDD disease. (PMID:30156374)
• RMRP functions as a miR-34a-5p sponge to promote cell proliferation and repress cell apoptosis through upregulation of c-Myc in MM (PMID:30389523)
• RMRP was highly expressed in neuroblastoma tissues. RMRP knockdown inhibited proliferation, migration and invasion in neuroblastoma cells. TACR1 was a target of miR-206 and RMRP performed as a molecular sponge of miR-206 to sequester miR-206 from TACR1 in neuroblastoma cells. TACR1 overexpression abrogated the inhibitory effect of RMRP downregulation on neuroblastoma cell progression by activating ERK1/2 pathway. (PMID:30582709)
• results found that lncRNA RMRP was closely related to the progression of bladder cancer. (PMID:30779067)
• Inhibition of RMRP contributed to the improvement of oxygen-glucose deprivation/re-oxygenation (OGD/R)-induced injury-induced neuronal injury, which might be mediated through the inhibition of autophagy and apoptosis pathways. (PMID:30926681)
• Long noncoding RNA RMRP promotes proliferation and invasion via targeting miR-1-3p in non-small-cell lung cancer. (PMID:31050363)
• Results have discovered that RMRP is highly expressed in cholangiocarcinoma (CCA) and that RMRP can affect a series of cancer cell biological functions in vitro and in vivo. RMRP can act as an oncogene partly by regulating miR-217. (PMID:31111617)
• elevated levels in T-cells of rheumatoid arthritis patients (PMID:31346885)
• MDWH is caused by RMRP mutations, and it can present with late-onset extraskeletal manifestations, like immunodeficiency and increased risk of malignancy. (PMID:31413121)
• Promoter Mutation Analysis of Long-Non-coding RNA RMRP Gene in Solid Tumors. (PMID:31422524)
• The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2. (PMID:31551465)
• lncRNA RMRP knockdown suppress hepatocellular carcinoma biological activities via regulation miRNA-206/TACR1. (PMID:31579977)
• The expression analyses of RMRP, DDX5, and RORC in RRMS patients treated with different drugs versus naive patients and healthy controls. (PMID:33068674)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.