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Gene

RTN2

reticulon 2

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,485,294–45,497,047 (GRCh38)
Exons
11 exons across 11.8 kb
Protein
545 amino acids
Inheritance
Autosomal dominant
Also known as
NSP2, NSPL1
Previous symbols
SPG12
MANE Select transcript
ENST00000245923.9NM_005619.5
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

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

      • 2 GenCC submitters rate it definitive or strong

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 12Autosomal dominant

      Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.

      • 2 GenCC submitters rate it definitive or strong
    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How RTN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where RTN2 sits. RTN2 and 39 genes near it on chromosome 19, from 44,991,171 to 45,991,170.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4345 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbCLPTM1: 44,954,585–44,993,342, forward strandCLPTM1RELB: 45,001,431–45,038,194, forward strandRELBCLASRP: 45,039,042–45,070,956, forward strandCLASRPZNF296: 45,071,500–45,076,485, reverse strandZNF296GEMIN7: 45,075,575–45,091,518, forward strandGEMIN7MARK4: 45,079,288–45,305,284, forward strandMARK4PPP1R37: 45,091,396–45,148,077, forward strandNKPD1: 45,149,744–45,160,982, reverse strandNKPD1BLOC1S3: 45,152,811–45,216,933, forward strandBLOC1S3TRAPPC6A: 45,162,928–45,178,268, reverse strandTRAPPC6AEXOC3L2: 45,210,600–45,245,429, reverse strandEXOC3L2CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,773–45,370,918, reverse strandERCC2PPP1R13L: 45,379,634–45,406,367, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,333–45,479,055, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,294–45,497,047, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPOPA3: 45,527,767–45,602,212, reverse strandOPA3GPR4: 45,588,565–45,602,556, reverse strandGPR4EML2: 45,606,994–45,645,617, reverse strandEML2GIPR: 45,668,207–45,683,722, forward strandGIPRSNRPD2: 45,677,907–45,692,569, reverse strandSNRPD2QPCTL: 45,692,403–45,703,989, forward strandQPCTLFBXO46: 45,710,624–45,730,931, reverse strandFBXO46MEIOSIN: 45,733,439–45,764,541, forward strandMEIOSINSIX5: 45,764,767–45,769,252, reverse strandSIX5DMPK: 45,769,709–45,782,794, reverse strandDMPK: 45,779,437–45,785,973, reverse strandDMWD: 45,782,944–45,792,949, reverse strandRSPH6A: 45,795,713–45,815,308, reverse strandSYMPK: 45,815,410–45,866,862, reverse strandSYMPKFOXA3: 45,863,989–45,873,798, forward strandFOXA3IRF2BP1: 45,883,608–45,886,141, reverse strandIRF2BP1MYPOP: 45,890,020–45,902,808, reverse strandMYPOPNANOS2: 45,913,214–45,914,778, reverse strandNANOS2NOVA2: 45,933,734–45,974,044, reverse strandNOVA2Diagram of RTN2: 11 exons on the reverse strand of chromosome 19Exon 5: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 11: 45,485,294–45,485,789, 496 basesExon 10: 45,486,055–45,486,113, 59 basesExon 9: 45,488,471–45,488,517, 47 basesExon 8: 45,488,637–45,488,706, 70 basesExon 7: 45,488,848–45,488,986, 139 basesExon 6: 45,489,346–45,489,553, 208 basesExon 5: 45,493,160–45,493,378, 219 basesExon 4: 45,494,166–45,494,420, 255 basesExon 3: 45,494,526–45,495,005, 480 basesExon 2: 45,495,095–45,495,139, 45 basesExon 1: 45,496,792–45,497,047, 256 bases1110864215′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 2.3 kb of the gene's 11.8 kb; 1,638 of those bases code for the protein.

How a genome test reads RTN2

6

positions in RTN2 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 11.8 kb of RTN2, introns included, not only the 2.3 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.). RTN2 gene: reticulon 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/rtn2

Vancouver

Dante Labs. RTN2 gene: reticulon 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rtn2

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