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Gene

AIMP2

aminoacyl tRNA synthetase complex interacting multifunctional protein 2

Summary

Cytogenetic location
7p22.1
Coordinates
Chromosome 7: 6,009,272–6,023,834 (GRCh38)
Exons
4 exons across 14.6 kb
Protein
320 amino acids
Inheritance
Autosomal recessive
Also known as
p38, PRO0992, JTV-1, JTV1
MANE Select transcript
ENST00000223029.8NM_006303.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

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

Curated reports relevant to this gene

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • Hypomyelinating leukodystrophy 17 (AIMP2)Autosomal recessive

      A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

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

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

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 AIMP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where AIMP2 sits. AIMP2 and 17 genes near it on chromosome 7, from 5,516,553 to 6,516,552.Chromosome 77p22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.35.6 Mb5.8 Mb6 Mb6.2 Mb6.4 MbACTB: 5,526,409–5,563,902, reverse strandACTBFSCN1: 5,592,806–5,606,656, forward strandFSCN1RNF216: 5,620,047–5,781,696, reverse strandRNF216OCM: 5,879,827–5,886,363, forward strandOCMCCZ1: 5,898,692–5,926,550, forward strandCCZ1RSPH10B: 5,925,544–5,970,702, reverse strandRSPH10BPMS2: 5,970,925–6,009,130, reverse strandPMS2AIMP2: 6,009,272–6,023,834, forward strandAIMP2EIF2AK1: 6,022,247–6,059,240, reverse strandEIF2AK1ANKRD61: 6,031,376–6,036,552, forward strandANKRD61USP42: 6,104,755–6,164,429, forward strandUSP42CYTH3: 6,148,751–6,272,677, reverse strandCYTH3SMIM10L3: 6,329,409–6,348,967, reverse strandSMIM10L3FAM220A: 6,329,409–6,348,981, reverse strandFAM220ARAC1: 6,374,098–6,404,016, forward strandRAC1DAGLB: 6,406,395–6,484,190, reverse strandDAGLBKDELR2: 6,445,953–6,484,224, reverse strandKDELR2GRID2IP: 6,496,778–6,551,461, reverse strandGRID2IPDiagram of AIMP2: 4 exons on the forward strand of chromosome 7Exon 1: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 1: 6,009,272–6,009,498, 227 basesExon 2: 6,015,146–6,015,352, 207 basesExon 3: 6,017,814–6,018,045, 232 basesExon 4: 6,023,303–6,023,834, 532 bases12345′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 1.2 kb of the gene's 14.6 kb; 963 of those bases code for the protein.

How a genome test reads AIMP2

5

positions in AIMP2 where ClinVar classes a change as pathogenic or likely pathogenic

3 of them (60%) fall in regions short reads find hard.

  • Segmental duplications (3 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 14.6 kb of AIMP2, introns included, not only the 1.2 kb of exons.

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.). AIMP2 gene: aminoacyl tRNA synthetase complex interacting multifunctional protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/aimp2

Vancouver

Dante Labs. AIMP2 gene: aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aimp2

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