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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RMRP Gene

RNA gene GIFtS: 24
GCID: GC09M035655

RNA component of mitochondrial RNA processing endoribonuclease

(Previous name: cartilage-hair hypoplasia )
(Previous symbol: CHH)

Explore 18 diseases affiliated with
RMRP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Subcategory (RNA class): lncRNA

Quality score for this RNA gene is 6

Aliases
RNA Component Of Mitochondrial RNA Processing Endoribonuclease¹ ²
CHH¹ ² ⁵
RMRPR¹ ² ⁵
NME1¹ ²
RRP2¹ ²
Cartilage-Hair Hypoplasia¹

External Ids:	HGNC: 10031¹	Entrez Gene: 6023²	Ensembl: ENSG00000199916⁷	OMIM: 157660⁵

ORGUL members:	fRNAdb¹⁰:FR380380 FR355912 FR119392 FR260307 FR380380
	NCBI:AF458226 AF458227 AF458223 AF458225 AF334829	see all 20
	NONCODE:u1859 u1344 u1860 u4113 n5543
	Rfam:RF00030
	RNAdb:LIT1757 LIT1753 LIT1758

Export aliases for RMRP gene to outside databases

Previous GC identifer: GC09U990067

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RMRP:

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)

Gene Wiki entry for RMRP

fRNAdb sequence ontologies for RMRP - the ORGUL cluster for this gene includes several descriptions:
RNase MRP - RNase MRP is an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. In mitochondria it plays a direct role in the initiation of mitochondrial DNA replication. In the nucleus it is involved in precursor rRNA processing, where it cleaves the internal transcribed spacer 1 between 18S and 5.8S rRNAs. Despite distinct functions, RNase MRP has been shown to be evolutionarily related to RNase P. Like eukaryotic RNase P, RNase MRP is not catalytically active without associated protein subunits.
RNase MRP - RNase MRP is an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. In mitochondria it plays a direct role in the initiation of mitochondrial DNA replication. In the nucleus it is involved in precursor rRNA processing, where it cleaves the internal transcribed spacer 1 between 18S and 5.8S rRNAs. Despite distinct functions, RNase MRP has been shown to be evolutionarily related to RNase P. Like eukaryotic RNase P, RNase MRP is not catalytically active without associated protein subunits.
RNase_MRP_RNA - The RNA molecule essential for the catalytic activity of RNase MRP, an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. In mitochondria it plays a direct role in the initiation of mitochondrial DNA replication. In the nucleus it is involved in precursor rRNA processing, where it cleaves the internal transcribed spacer 1 between 18S and 5.8S rRNAs.

View fRNAdb secondary structures for RMRP

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RMRP gene promoter:
IRF-2 Sp1 p300 Nkx2-5 Tal-1beta ITF-2
Other transcription factors

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Epigenetics:

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Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21-p12 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p21-p12

RMRP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RMRP gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M035655: view genomic region (about GC identifiers)

Start:	35,657,748 bp from pter	End:	35,658,015 bp from pter
Size:	268 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

FR0022570
FR0355912
FR0119392
n5543
FR0260307
FR0380380
RF00030
FR0215892
FR0193707
FR0089364
FR0375881

lncRNA
Full Legend

35657747 35657881 35658014 chr9

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB: --

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

Genatlas biochemistry entry for RMRP:

endoribonuclease,mitochondrial RNA-processing

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Animal Models:
Mouse knock-outs for RMRP: Rmrp^tm1.1Whah Rmrp^tm1Whah
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rmrp):

mortality/aging

normal

RMRP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RMRP

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about RMRP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

5/9 fRNAdb Secondary structures (see all 9):

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000363046(misc_RNA)

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GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

Expression evidence for RMRP:RNAdb

RMRP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SABiosciences Custom PCR Arrays for RMRP

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for RMRP gene from 1 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rmrp⁵	RNA component of mitochondrial RNAase P	--		4 (23.04 cM) 43492788

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RMRP gene

ENSG00000252419² ENSG00000252465² ENSG00000223088² ENSG00000251950² ENSG00000253045²

RMRP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111433538^1,2		--	35612971(+)	`TACTAT/GGGCGT`	1	--	ds500¹		2		CSA WA	120
rs7021642^1,2	C,F,A,H,	--	35613447(+)	`CCCGCG/ACCACG`	1	--	nc-transcript-variantese³		20		NS EA NA WA CSA	2225
rs7021463^1,2	C,F,A,H,	--	35613468(+)	`GGATAC/GGCTTC`	1	--	nc-transcript-variantese³		8		NA WA CSA	250
rs113967059^1,2	C,	--	35613482(+)	`GCGGAC/TTTTGG`	1	--	nc-transcript-variant		1		WA	2
rs74810894^1,2		--	35613497(+)	`GGAAGC/GGGGGA`	1	--	nc-transcript-variant		0	--	--	--	--
rs7024732^1,2	C,F,A,H,	--	35613629(+)	`CACGTC/TCTCAG`	1	--	us2k¹		21		NS EA NA WA CSA	2125
rs12552387^1,2	C,H,	--	35613633(+)	`TCCTCA/CGCTTC`	1	--	us2k¹		1		NA	4
rs12551232^1,2	C,F,A,H,	--	35613679(+)	`TTTTAT/CGATTA`	1	--	us2k¹ tfbs³		7		NA WA CSA	249
rs45622432^1,2	C,F,	--	35614716(+)	`GATTGC/TTGCAG`	1	--	us2k¹		5		NA	128
rs7029668^1,2	C,F,A,H,	--	35614889(+)	`AACCAG/ATTTAG`	1	--	us2k¹		26		NS EA NA WA CSA	2356

HapMap Linkage Disequilibrium report for RMRP (35657748 - 35658015 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RMRP: --
Human Gene Mutation Database (HGMD): RMRP

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RMRP for disorders           About GeneDecksing

OMIM gene information: 157660
OMIM disorders: 250250  250460  607095
18 diseases for RMRP:    About MalaCards

cartilage-hair hypoplasia metaphyseal dysplasia without hypotrichosis metaphyseal dysplasia developmental disabilities

short stature anauxetic dysplasia non-hodgkin lymphoma osseous dysplasia

severe combined immunodeficiency hypotrichosis combined immunodeficiency omenn syndrome

hodgkin's lymphoma basal cell carcinoma hypoparathyroidism genetic disease

immunodeficiency carcinoma

8 Novoseek disease relationships for RMRP gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cartilage-hair hypoplasia	97.8	12	11940090 (2), 14608646 (2), 16244706 (1), 19626344 (1) (see all 9)
metaphyseal dysplasia	93.7	4	16244706 (2), 16252239 (1), 17701897 (1)
short stature	74.9	2	16244706 (1), 16252239 (1)
skeletal dysplasia	61.4	2	17189938 (1), 17701897 (1)
hypoplasia	56.1	4	19626344 (1), 16252239 (1), 17701897 (1), 17937437 (1)
developmental disabilities	44.8	1	17189938 (1)
cancer	21.2	2	16244706 (1), 16252239 (1)
anemia	14	2	16244706 (2)

Export disorders for RMRP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RMRP gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with RMRP)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. (PubMed id 11207361)^{1, 3, 9} Ridanpaa M....de la Chapelle A. (2001)
A role for RNAase MRP in mitochondrial RNA processing. (PubMed id 1623519)^{1, 3} Topper J.N....Clayton D.A. (1992)
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. (PubMed id 16244706)^{1, 9} Bonafe L....Reymond A. (2005)
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (PubMed id 17937437)^{1, 9} Nakashima E....Schlessinger D. (2007)
An RNA-dependent RNA polymerase formed by TERT and th e RMRP RNA. (PubMed id 19701182)^{1, 9} Maida Y....Masutomi K. (2009)
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (PubMed id 17701897)^{1, 9} Thiel C.T....Rauch A. (2007)
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. (PubMed id 16832578)^{1, 9} Hirose Y....Ikegawa S. (2006)
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. (PubMed id 11940090)^{1, 9} Bonafe L....Superti-Furga A. (2002)
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. (PubMed id 16252239)^{1, 9} Thiel C.T....Rauch A. (2005)
Cartilage-hair hypoplasia caused by novel compound he terozygous RMRP mutations. (PubMed id 21813924)¹ Reicherter K....Jagadeesh S. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6023	HGNC: 10031	Ensembl:ENSG00000199916	euGenes: HUgn6023	ECgene: RMRP
H-InvDB: RMRP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RMRP	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RMRP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RMRP gene:
Search GeneIP for patents involving RMRP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RMRP gene at Home site.

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RMRP Gene

RNA component of mitochondrial RNA processing endoribonuclease

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RMRP Gene

RNA component of mitochondrial RNA processing endoribonuclease

Aliasesfor RMRP gene

Summariesfor RMRP gene

Genomic Viewsfor RMRP gene

Proteinsfor RMRP gene

Protein Domains /Familiesfor RMRP gene

Functionfor RMRP gene

Pathways & Interactionsfor RMRP gene

Drugs & Compoundsfor RMRP gene

Transcriptsfor RMRP gene

Expression for RMRP gene

Orthologsfor RMRP gene

Paralogsfor RMRP gene

Genomic Variantsfor RMRP gene

Disorders / Diseasesfor RMRP gene

Publicationsfor RMRP gene

External Searches for RMRP gene

Genome Databases showing RMRP gene

Other Databases showing RMRP gene

Specialized Databases showing RMRP gene

Intellectual Propertyfor RMRP gene

Productsfor RMRP gene

View Random Gene

Aliases
for RMRP gene

Summaries
for RMRP gene

Genomic Views
for RMRP gene

Proteins
for RMRP gene

Protein Domains /
Families
for RMRP gene

Function
for RMRP gene

Pathways & Interactions
for RMRP gene

Drugs & Compounds
for RMRP gene

Transcripts
for RMRP gene

Expression
for RMRP gene

Orthologs
for RMRP gene

Paralogs
for RMRP gene

Genomic Variants
for RMRP gene

Disorders / Diseases
for RMRP gene

Publications
for RMRP gene

Intellectual Property
for RMRP gene

Products
for RMRP gene