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 ... See more...

Aliases for RMRP Gene

Subcategory (RNA class) for RMRP Gene

ribozyme

Number of RNA Genes sources:

3 / 14

Aliases for RMRP Gene

  • RNA Component Of Mitochondrial RNA Processing Endoribonuclease 2 3 5
  • Cartilage-Hair Hypoplasia 2
  • Lnc-ARHGEF39-1 168
  • NONHSAG052119 92
  • RF00030 172
  • RMRPR 3
  • NME1 3
  • RRP2 3
  • RMRP 2
  • CHH 3

External Ids for RMRP Gene

Additional External Ids for RMRP Gene

Previous HGNC Symbols for RMRP Gene

  • CHH

Previous GeneCards Identifiers for RMRP Gene

  • GC09U990067

Summaries for RMRP Gene

Entrez Gene Summary for RMRP Gene

  • 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.[provided by RefSeq, Mar 2010]

GeneCards Summary for RMRP Gene

RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease) is an RNA Gene, and is affiliated with the ribozyme RNA class. Diseases associated with RMRP include Cartilage-Hair Hypoplasia and Anauxetic Dysplasia 1. Among its related pathways are Ribosome biogenesis in eukaryotes.

Gene Wiki entry for RMRP Gene

Rfam classification for RMRP Gene

Additional gene information for RMRP Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for RMRP Gene

Genomics for RMRP Gene

GeneHancer (GH) Regulatory Elements for RMRP Gene

Promoters and enhancers for RMRP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J035656 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.7 -3.0 -2998 10 RXRA EP300 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC ARHGEF39 CCDC107 lnc-SIT1-1 PIGO NPR2 RECK CCL21 VCP FANCG ENSG00000230074
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMRP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RMRP gene promoter:
  • IRF-2
  • ITF-2
  • Nkx2-5
  • p300
  • Sp1
  • Tal-1beta

Genomic Locations for RMRP Gene

Genomic Locations for RMRP Gene
chr9:35,657,751-35,658,018
(GRCh38/hg38)
Size:
268 bases
Orientation:
Minus strand
chr9:35,657,748-35,658,015
(GRCh37/hg19)
Size:
268 bases
Orientation:
Minus strand

Genomic View for RMRP Gene

Genes around RMRP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMRP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMRP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMRP Gene

Proteins for RMRP Gene

Post-translational modifications for RMRP Gene

No Post-translational modifications

No data available for DME Specific Peptides for RMRP Gene

Domains & Families for RMRP Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RMRP Gene

Function for RMRP Gene

Molecular function for RMRP Gene

GENATLAS Biochemistry:
endoribonuclease,mitochondrial RNA-processing

Gene Ontology (GO) - Molecular Function for RMRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003968 contributes_to RNA-directed 5'-3' RNA polymerase activity IDA 19701182
GO:0070182 DNA polymerase binding IPI 19701182
GO:0098680 contributes_to template-free RNA nucleotidyltransferase IDA 19701182
genes like me logo Genes that share ontologies with RMRP: view

Human Phenotype Ontology for RMRP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RMRP Gene

miRTarBase miRNAs that target RMRP

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for RMRP Gene

Localization for RMRP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RMRP gene
Compartment Confidence
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RMRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 19701182
GO:1990572 TERT-RMRP complex IMP 19701182
genes like me logo Genes that share ontologies with RMRP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RMRP Gene

Pathways & Interactions for RMRP Gene

PathCards logo

SuperPathways for RMRP Gene

genes like me logo Genes that share pathways with RMRP: view

Pathways by source for RMRP Gene

1 KEGG pathway for RMRP Gene
;

Gene Ontology (GO) - Biological Process for RMRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001172 transcription, RNA-templated IDA 19701182
GO:0030422 production of siRNA involved in RNA interference IDA 19701182
GO:1903704 negative regulation of production of siRNA involved in RNA interference IMP 19701182
genes like me logo Genes that share ontologies with RMRP: view

No data available for Interacting Proteins and SIGNOR curated interactions for RMRP Gene

Drugs & Compounds for RMRP Gene

No Compound Related Data Available

Transcripts for RMRP Gene

mRNA/cDNA for RMRP Gene

4 RNACentral transcripts :
1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
1 NONCODE transcripts :
4 LNCipedia transcripts :
1 Rfam transcripts :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for RMRP Gene

No ASD Table

Relevant External Links for RMRP Gene

GeneLoc Exon Structure for
RMRP

Expression for RMRP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RMRP Gene

mRNA differential expression in normal tissues according to GTEx for RMRP Gene

This gene is overexpressed in Whole Blood (x5.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RMRP

Phenotype-based relationships between genes and organs from Gene ORGANizer for RMRP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • trachea
Abdomen:
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RMRP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for RMRP Gene

Orthologs for RMRP Gene

Evolution for RMRP Gene

ENSEMBL:
Gene Tree for RMRP (if available)
TreeFam:
Gene Tree for RMRP (if available)

No data available for Orthologs for RMRP Gene

Paralogs for RMRP Gene

No data available for Paralogs for RMRP Gene

Variants for RMRP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RMRP Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
639092 Uncertain Significance: Anauxetic dysplasia 35,658,036(-) G/C
639569 Uncertain Significance: Anauxetic dysplasia 35,657,788(-) G/A NON_CODING_TRANSCRIPT_VARIANT
639851 Uncertain Significance: Anauxetic dysplasia 35,658,000(-) C/G NON_CODING_TRANSCRIPT_VARIANT
640557 Uncertain Significance: Anauxetic dysplasia 35,657,787(-) C/T NON_CODING_TRANSCRIPT_VARIANT
641705 Uncertain Significance: Anauxetic dysplasia 35,658,105(-) T/TA

Additional dbSNP identifiers (rs#s) for RMRP Gene

Structural Variations from Database of Genomic Variants (DGV) for RMRP Gene

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

Additional Variant Information for RMRP Gene

Human Gene Mutation Database (HGMD)
RMRP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMRP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RMRP Gene

Disorders for RMRP Gene

MalaCards: The human disease database

(17) MalaCards diseases for RMRP Gene - From: LncRNADisease, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RMRP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RMRP

genes like me logo Genes that share disorders with RMRP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMRP Gene

Publications for RMRP Gene

  1. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. (PMID: 11207361) Ridanpää M … de la Chapelle A (Cell 2001) 2 3 23 54
  2. An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA. (PMID: 19701182) Maida Y … Masutomi K (Nature 2009) 3 23 54
  3. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (PMID: 17701897) Thiel CT … Rauch A (American journal of human genetics 2007) 3 23 54
  4. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (PMID: 17937437) Nakashima E … Schlessinger D (American journal of medical genetics. Part A 2007) 3 23 54
  5. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. (PMID: 16832578) Hirose Y … Ikegawa S (Journal of human genetics 2006) 3 23 54

Products for RMRP Gene

Sources for RMRP Gene