RMRP (RNA component of mitochondrial RNA processing endoribonuclease)

Gene

• Entrez ID: 6023
• Gene name: RNA component of mitochondrial RNA processing endoribonuclease
• Gene symbol: RMRP
• Synonyms (NCBI Gene): CHH, NME1, RMRPR, RRP2
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: 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 t

Other IDs

• MIM: 157660
• HGNC: 10031
• e!Ensembl: ENSG00000277027

Interactions View interactions

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Anauxetic dysplasia	Likely pathogenic; Pathogenic	rs1823639713, rs74810894, rs915919453, rs1823630945, rs1554651368, rs1554651375, rs1218494857, rs2131809449, rs1554651387, rs2131809458, rs2131809467, rs2131809584, rs1408633343, rs1563907859, rs1823637418, rs1823637651, rs2131809742, rs1554651439, rs1823639598, rs1823640657, rs751921616, rs727502776, rs1823643256, rs1554651503, rs781730798, rs1823644118, rs1563908167, rs1554651544, rs1013239356, rs1554651360, rs727502774, rs1554651425, rs937585109, rs1554651486, rs2131809930, rs1554651376, rs1554651508, rs1563907676, rs1554651430, rs2131809417, rs2131810269, rs1563908212, rs2131810166, rs2131809894, rs1823630124, rs2131810278, rs1823640030, rs1554651423, rs2131808768, rs2131809514, rs1554651479, rs920074067, rs1554651507, rs1554651405, rs2131809737, rs930432793, rs2131810104, rs2131810342, rs727502778, rs786204684, rs1230629953, rs1554651364, rs1563907946, rs2490604150, rs1554651552, rs2490602971, rs2490602783, rs2490603296, rs1554651451, rs1554651473, rs2490603549, rs1823638217, rs1554651506, rs1554651471, rs2490602964, rs2490602929, rs2490604293, rs1563908191, rs2490602916, rs1554651399, rs1554651469, rs878853178, rs796065036, rs902313238, rs1554651414, rs1554651400, rs1554651464, rs1554651499, rs2490604082, rs2490604530, rs2490602952, rs2490604636, rs1823647798, rs2490603242, rs2490602876, rs2490602769, rs1472119885, rs2490603023, rs1554651379, rs2490603538, rs753874439, rs1383432106, rs940080676, rs1340624774, rs551450545, rs752934195, rs549085067, rs1554651385, rs1156413585, rs772443941, rs1554651397, rs1554651396, rs1554651403, rs1554651424, rs1554651427, rs727502777, rs1554651481, rs1554651491, rs1554651532, rs1554651365, rs1554651422, rs1554651428, rs1554651489, rs1554651526, rs1554651404, rs1554651411, rs1554651461, rs1554651513, rs1554651382, rs1554651418, rs1554651413, rs1554651453, rs1554651462, rs1554651512, rs1554651524, rs1554651543, rs936059863, rs749667892, rs1563907686, rs192060920, rs948931144, rs1554651373, rs1563907881, rs1563907883, rs762145032, rs1587919406, rs1587919053, rs1554651537, rs1554651445, rs1823634410, rs761398394, rs1004469515, rs1563907710, rs1554651447, rs1179735603, rs1554651349, rs1823641711, rs772962847, rs1823629969, rs1823636018, rs1823637565, rs1823637755, rs1364719732	RCV001378448 RCV001378692 RCV001378471 RCV001377462 RCV001377534 RCV001378797 RCV001378039 RCV001379279 RCV001378325 RCV001379545 RCV001377331 RCV001377652 RCV001377707 RCV001378318 RCV001376761 RCV001377844 RCV001376814 RCV001376936 RCV001378314 RCV001379598 RCV001378287 RCV001377573 RCV001378744 RCV001378484 RCV001377095 RCV001378140 RCV001376990 RCV001378617 RCV001379240 RCV001378223 RCV001385131 RCV001384127 RCV002538690 RCV003759064 RCV001866374 RCV001922397 RCV001999913 RCV001960545 RCV001960559 RCV001939396 RCV001941837 RCV001898063 RCV001900414 RCV001905294 RCV001992855 RCV001953767 RCV001953900 RCV001942406 RCV001982337 RCV002007405 RCV001999976 RCV002035424 RCV001962915 RCV001960673 RCV001942033 RCV001864595 RCV001929388 RCV001953404 RCV001871185 RCV001972853 RCV002051242 RCV001947016 RCV001959065 RCV001956534 RCV001978227 RCV001909562 RCV001943475 RCV003594177 RCV000794299 RCV003122057 RCV003106740 RCV002630347 RCV002706384 RCV002710914 RCV002861911 RCV002880739 RCV002880880 RCV002862803 RCV003019213 RCV003045269 RCV003026961 RCV003055056 RCV003057537 RCV003052061 RCV001239373 RCV003594795 RCV003594925 RCV003594917 RCV003595204 RCV003595271 RCV003595248 RCV003593459 RCV003593652 RCV003593687 RCV003594607 RCV001207690 RCV000799677 RCV000694726 RCV001248044 RCV001851869 RCV001384494 RCV000548629 RCV002514102 RCV003759997 RCV003760035 RCV003759924 RCV003760656 RCV003760108 RCV003760883 RCV003760814 RCV003761078 RCV003761015 RCV003758466 RCV003758286 RCV003758547 RCV003758503 RCV003759211 RCV003759315 RCV003759276 RCV003759338 RCV003759518 RCV003760576 RCV003835173 RCV003855806 RCV003859250 RCV003879512 RCV000549969 RCV000527817 RCV000560098 RCV000549540 RCV000529672 RCV000526886 RCV000816222 RCV000796381 RCV000641006 RCV000641008 RCV000641013 RCV001378693 RCV000799558 RCV003758905 RCV001245795 RCV001243700 RCV002531320 RCV001242503 RCV001209862 RCV001855557 RCV001225164 RCV001868208 RCV003758901 RCV002531321 RCV001855466 RCV001377940 RCV001379653 RCV000814772 RCV005056416 RCV002532075 RCV003758904 RCV001245649 RCV000810110 RCV001240786 RCV001861837 RCV001377338 RCV003767953 RCV000804998 RCV001242761 RCV002530726 RCV001242754 RCV000809273 RCV001215335 RCV001214577 RCV001378701 RCV001868242 RCV001241057 RCV001047672 RCV001868272 RCV000796285 RCV000703896 RCV000699988 RCV000703897 RCV001856189 RCV000814860 RCV001297863 RCV001221855 RCV001204853 RCV000795838 RCV001379408 RCV000792391 RCV000812169 RCV000795100 RCV000821149 RCV000817755 RCV000801901 RCV000815656 RCV001057314 RCV001377210 RCV002559222 RCV001390935 RCV001244477 RCV001378890 RCV003594122 RCV001201791 RCV001213547 RCV001224981 RCV001216626 RCV001246066 RCV001243838 RCV001247910 RCV001241194 RCV001239372 RCV001247706 RCV001377650 RCV005094265 RCV001294768
Anauxetic dysplasia 1	Likely pathogenic; Pathogenic	rs74810894, rs786204684, rs727502774, rs1554651507, rs727502776, rs727502778, rs1823615821, rs902313238, rs753874439, rs1383432106, rs551450545, rs752934195, rs549085067, rs772443941, rs1554651491, rs1554651486, rs1554651400, rs1554651411, rs1554651425, rs936059863, rs1563907883, rs1563908167, rs761398394, rs1823639713	RCV002493919 RCV000763614 RCV002496369 RCV002490373 RCV002496370 RCV002482870 RCV000015293 RCV000015294 RCV002488899 RCV000015297 RCV002497220 RCV002476257 RCV002499076 RCV002507160 RCV002485540 RCV002485563 RCV002485528 RCV002493080 RCV002493113 RCV002493235 RCV002507350 RCV002477836 RCV002491588 RCV002480864
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders	Pathogenic; Likely pathogenic	rs753874439, rs192060920	RCV001563660 RCV001563589
Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic; Pathogenic	rs1823639713, rs74810894, rs2131809449, rs2131809467, rs1823637651, rs1823640657, rs727502776, rs1554651503, rs1554651425, rs2131809783, rs1554651376, rs2131809417, rs1554651423, rs2131808768, rs930432793, rs1563907859, rs2131809964, rs727502778, rs2131809978, rs2490603549, rs786204684, rs2490604150, rs2490602783, rs1408633343, rs1554651506, rs1554651451, rs727502774, rs1554651507, rs1554651446, rs1554651469, rs878853178, rs796065036, rs753874439, rs1554651455, rs1085307765, rs1383432106, rs940080676, rs1554651508, rs1340624774, rs751921616, rs551450545, rs752934195, rs549085067, rs1156413585, rs772443941, rs1554651395, rs1554651397, rs1554651396, rs1554651403, rs1554651424, rs1554651427, rs727502777, rs1230629953, rs1554651481, rs1554651491, rs1554651532, rs1554651544, rs752709977, rs1554651365, rs1218494857, rs1587919129, rs1554651422, rs1554651428, rs1554651486, rs1554651489, rs1554651526, rs1554651405, rs1554651400, rs1587919165, rs1554651404, rs1554651411, rs1554651461, rs1554651471, rs1554651473, rs1554651505, rs781730798, rs1554651513, rs1554651153, rs759665242, rs1554651368, rs1554651382, rs1554651418, rs1554651413, rs1554651453, rs1554651462, rs1554651466, rs920074067, rs1554651499, rs1554651512, rs1554651524, rs1554651543, rs936059863, rs749667892, rs192060920, rs948931144, rs1554651373, rs1563907881, rs1563907883, rs1563907946, rs1563908212, rs762145032, rs1587919053, rs1563908167, rs1554651445, rs1823634410, rs1823648167, rs761398394, rs1004469515, rs1563907710, rs1554651447, rs1179735603, rs1823637565, rs1554651439, rs1823638952, rs1823639598, rs1823637491	RCV001375541 RCV002493919 RCV004587150 RCV005419107 RCV002298940 RCV001831345 RCV001831355 RCV001831351 RCV002271665 RCV001733415 RCV004587271 RCV004770315 RCV004762275 RCV003225205 RCV004690218 RCV002223095 RCV002238693 RCV002266206 RCV002271788 RCV002308700 RCV000169492 RCV004700844 RCV004763508 RCV003225634 RCV000666143 RCV003230865 RCV000015277 RCV000015278 RCV000015279 RCV000015281 RCV000015282 RCV000666776 RCV000015289 RCV000015291 RCV000666251 RCV004525944 RCV000670275 RCV001273824 RCV001834782 RCV001834783 RCV000015280 RCV000781816 RCV000576821 RCV000576363 RCV001273834 RCV000665904 RCV000665942 RCV000667744 RCV000667902 RCV000672334 RCV000668083 RCV000670874 RCV000672723 RCV000671238 RCV000672299 RCV000672287 RCV000670025 RCV000671350 RCV000667935 RCV000672130 RCV000665841 RCV000668052 RCV000665758 RCV000672763 RCV000671922 RCV000665153 RCV000666742 RCV000674876 RCV000674144 RCV000671573 RCV000671403 RCV000668567 RCV000671882 RCV000666155 RCV000666374 RCV000670190 RCV000665120 RCV000670672 RCV000674238 RCV000669589 RCV000667166 RCV000672412 RCV000666774 RCV000673470 RCV000672620 RCV000665433 RCV000674409 RCV000667855 RCV000673082 RCV000666857 RCV000672606 RCV000673230 RCV000667094 RCV000671905 RCV000668496 RCV000670375 RCV000666119 RCV000666818 RCV000673527 RCV000669457 RCV000781820 RCV001797786 RCV000780686 RCV000781815 RCV000781819 RCV000780684 RCV000781818 RCV000780685 RCV000781817 RCV000780687 RCV002051895 RCV001271388 RCV005414269 RCV001251401 RCV001832519 RCV001174551 RCV001175611 RCV001175612 RCV001193444 RCV001193442 RCV001194117 RCV001194116 RCV001194118 RCV001830025 RCV003155378 RCV001251372 RCV001251266 RCV001251297 RCV001251267 RCV001264439 RCV001264598
Metaphyseal dysplasia without hypotrichosis	Likely pathogenic; Pathogenic	rs74810894, rs786204684, rs727502774, rs1554651507, rs727502776, rs727502778, rs1554651400, rs1554651469, rs753874439, rs1383432106, rs551450545, rs752934195, rs549085067, rs772443941, rs1554651491, rs752709977, rs1554651486, rs1554651411, rs1554651425, rs936059863, rs749667892, rs948931144, rs1563907883, rs1563908167, rs761398394, rs1004469515, rs1823639713	RCV002493919 RCV000763614 RCV002496369 RCV002490373 RCV002496370 RCV002482870 RCV000015286 RCV000015287 RCV002488899 RCV002497125 RCV002497220 RCV002476257 RCV002499076 RCV002507160 RCV002485540 RCV002285169 RCV002485563 RCV002485528 RCV002493080 RCV002493113 RCV000015288 RCV000015284 RCV000015285 RCV002507350 RCV002477836 RCV002491588 RCV005359915 RCV002480864
RMRP-related disorder	Likely pathogenic; Pathogenic	rs1383432106, rs551450545, rs752934195, rs781730798	RCV003905394 RCV004748829 RCV004748828 RCV003403544
Skeletal dysplasia	Pathogenic	rs1554651373	RCV006436898

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Stimulate	27906963
Agranulocytosis	Associate	31413121
Anauxetic dysplasia	Associate	16252239, 17701897, 21455487, 30102486
Anemia Diamond Blackfan	Associate	17701897
Breast Neoplasms	Stimulate	26415221
Carcinoma Hepatocellular	Associate	33846370
Carcinoma Non Small Cell Lung	Associate	34628486
Cardiomyopathies	Associate	37238718
Cartilage hair hypoplasia	Associate	11207361, 14569119, 16252239, 17701897, 20375313, 21146796, 24009312, 24217815, 28067412, 30410491, 31551465, 34956076, 37820747
Colorectal Neoplasms	Stimulate	34266953
Developmental Defects of Enamel	Associate	26415221
Epstein Barr Virus Infections	Associate	24217815
Esophageal Neoplasms	Associate	28468586
Esophageal Squamous Cell Carcinoma	Associate	34516335
Fetal Growth Retardation	Associate	39265375
Fibrocartilaginous embolism	Associate	30156374
Growth Disorders	Associate	16252239, 17701897, 24217815
Hair Diseases	Associate	17701897
Heart Failure	Associate	37820747
HEM dysplasia	Associate	17701897, 28067412, 31413121, 34956076
Hypotrichosis	Associate	16252239
Hypoxia	Stimulate	30926681
Immunologic Deficiency Syndromes	Associate	17701897, 30410491, 31551465
Inflammation	Associate	24217815
Intervertebral Disc Degeneration	Stimulate	30156374
Liver Diseases	Associate	33846370
Lung Neoplasms	Associate	27906963
Lymphatic Metastasis	Associate	30779067
Lymphatic Metastasis	Stimulate	34516335
Lymphoproliferative Disorders	Associate	24217815
Metaphyseal Dysplasia without Hypotrichosis	Associate	31413121
Neoplasms	Associate	16252239, 26415221, 31551465, 34266953, 34516335
Nerve Degeneration	Associate	30926681
Neuromyelitis Optica	Associate	38091807
Pyle disease	Associate	16252239, 17701897
Reperfusion Injury	Associate	30926681
Scoliosis	Associate	30102486
Still's Disease Adult Onset	Associate	34524081
Stomach Neoplasms	Stimulate	39925803
T cell immunodeficiency primary	Associate	24217815
Urinary Bladder Neoplasms	Associate	30779067