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Gene

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

Summary

Cytogenetic location
9p13.3
Coordinates
Chromosome 9: 35,657,750–35,658,019 (GRCh38)
Exons
1 exon across 0.3 kb
Inheritance
Autosomal recessive
Also known as
RMRPR, RRP2, NME1
Previous symbols
CHH
MANE Select transcript
ENST00000363046.2NR_003051.4
Locus type
RNA, misc

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Immuno-Osseous Dysplasias

    • Immuno-osseous dysplasiaAutosomal recessive

      A group of conditions, including cartilage-hair hypoplasia (RMRP) and Schimke immuno-osseous dysplasia (SMARCAL1), that combine skeletal dysplasia with immune deficiency.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the diagnosis guides avoidance of live vaccines, infection prevention and monitoring of the kidneys, blood counts and cancer risk.

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RMRP is laid out

  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 9, with a bracket where RMRP sits. RMRP and 28 genes near it on chromosome 9, from 35,157,885 to 36,157,884.Chromosome 99p13.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.335.2 Mb35.4 Mb35.6 Mb35.8 Mb36 MbUNC13B: 35,161,829–35,405,339, forward strandUNC13BRUSC2: 35,489,670–35,562,266, forward strandRUSC2CIMIP2B: 35,561,831–35,563,914, reverse strandCIMIP2BTESK1: 35,605,235–35,610,328, forward strandCD72: 35,609,965–35,646,810, reverse strandSIT1: 35,649,288–35,650,970, reverse strandSIT1RMRP: 35,657,750–35,658,019, reverse strandRMRPCCDC107: 35,658,277–35,661,524, forward strandCCDC107ARHGEF39: 35,658,874–35,675,866, reverse strandARHGEF39CA9: 35,673,898–35,681,159, forward strandTPM2: 35,681,992–35,691,116, reverse strandTLN1: 35,696,925–35,732,212, reverse strandTLN1CREB3: 35,732,296–35,738,887, forward strandCREB3GBA2: 35,734,577–35,749,986, reverse strandGBA2RGP1: 35,748,613–35,759,600, forward strandRGP1MSMP: 35,752,990–35,756,613, reverse strandNPR2: 35,791,003–35,809,732, forward strandNPR2SPAG8: 35,808,045–35,812,272, reverse strandSPAG8HINT2: 35,812,960–35,815,354, reverse strandHINT2: 35,812,960–35,828,732, reverse strandTMEM8B: 35,814,451–35,865,518, forward strandFAM221B: 35,816,391–35,828,747, reverse strandOR13J1: 35,869,463–35,870,401, reverse strandOR13J1HRCT1: 35,906,202–35,907,136, forward strandHRCT1SPAAR: 35,909,488–35,937,153, forward strandSPAAROR2S2: 35,957,108–35,958,154, reverse strandOR2S2OR13C7: 36,002,909–36,003,867, reverse strandOR13C7RECK: 36,036,896–36,124,457, forward strandRECKGLIPR2: 36,136,417–36,163,913, forward strandGLIPR2Diagram of RMRP: one exon on the reverse strand of chromosome 9Exon 1: 36 known disease-causing sitesExon 1: 35,657,750–35,658,019, 270 bases. 17 variants with a page in exon 1. List them15′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.3 kb of the gene's 0.3 kb.

How a genome test reads RMRP

56

positions in RMRP where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 0.3 kb of RMRP, introns included, not only the 0.3 kb of exons.

Variants with a page (19)

The RMRP variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantExon or intronPosition (GRCh38)ClinVar classificationReview status
n.2_3insCTCTGTGAAGCTGAGGACGTGGExon 135,658,016Likely pathogenic3 stars out of 4 reviewed by expert panel
n.3_4insGAAGCTGAGGACGTGGTExon 135,658,015Pathogenic3 stars out of 4 reviewed by expert panel
n.36C>AExon 135,657,983Likely pathogenic3 stars out of 4 reviewed by expert panel
n.36C>TExon 135,657,983Likely pathogenic3 stars out of 4 reviewed by expert panel
n.147G>AExon 135,657,872Likely pathogenic3 stars out of 4 reviewed by expert panel
n.181G>AExon 135,657,838Likely pathogenic3 stars out of 4 reviewed by expert panel
n.194G>A193G-AExon 135,657,825Likely pathogenic3 stars out of 4 reviewed by expert panel
n.196C>T195C-TExon 135,657,823Pathogenic3 stars out of 4 reviewed by expert panel
n.212C>GExon 135,657,807Likely pathogenic3 stars out of 4 reviewed by expert panel
n.219A>G218A-GExon 135,657,800Likely pathogenic3 stars out of 4 reviewed by expert panel

See all 19 RMRP variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RMRP gene: RNA component of mitochondrial RNA processing endoribonuclease. Retrieved 16 October 2026, from https://dantelabs.com/genes/rmrp

Vancouver

Dante Labs. RMRP gene: RNA component of mitochondrial RNA processing endoribonuclease [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rmrp

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