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Gene

SPG7

SPG7 matrix AAA peptidase subunit, paraplegin

Summary

Cytogenetic location
16q24.3
Coordinates
Chromosome 16: 89,508,403–89,557,766 (GRCh38)
Exons
17 exons across 49.4 kb
Protein
795 amino acids
Also known as
CAR, SPG5C
Previous symbols
CMAR
MANE Select transcript
ENST00000645818.2NM_003119.4
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 report relevant to this gene

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 7

      Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.

      • 4 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.

      • 4 GenCC submitters rate it definitive or strong

How SPG7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where SPG7 sits. SPG7 and 24 genes near it on chromosome 16, from 89,033,085 to 90,033,084.Chromosome 1616q24.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.389.2 Mb89.4 Mb89.6 Mb89.8 Mb90 MbACSF3: 89,088,375–89,164,121, forward strandACSF3CDH15: 89,171,742–89,195,492, forward strandCDH15SLC22A31: 89,195,458–89,201,692, reverse strandSLC22A31ZNF778: 89,217,683–89,237,141, forward strandZNF778ANKRD11: 89,267,619–89,490,706, reverse strandANKRD11: 89,317,046–89,418,292, reverse strandSPG7: 89,508,403–89,557,766, forward strandSPG7RPL13: 89,560,637–89,567,834, forward strandRPL13CPNE7: 89,575,730–89,597,247, forward strandCPNE7DPEP1: 89,613,308–89,638,456, forward strandDPEP1CHMP1A: 89,640,816–89,657,738, reverse strandCHMP1ASPATA33: 89,657,740–89,671,287, forward strandSPATA33CDK10: 89,680,737–89,696,372, forward strandCDK10SPATA2L: 89,696,357–89,701,733, reverse strandSPATA2LVPS9D1: 89,707,128–89,721,879, reverse strandVPS9D1ZNF276: 89,720,400–89,740,925, forward strandZNF276FANCA: 89,726,683–89,816,977, reverse strandFANCASPIRE2: 89,818,179–89,871,320, forward strandSPIRE2TCF25: 89,873,214–89,913,627, forward strandTCF25MC1R: 89,912,119–89,920,977, forward strandMC1R: 89,919,165–89,936,092, forward strandTUBB3: 89,921,392–89,938,761, forward strandTUBB3DEF8: 89,948,014–89,968,079, forward strandDEF8DBNDD1: 90,004,648–90,019,890, reverse strandDBNDD1DRC4: 90,019,629–90,045,369, forward strandDRC4Diagram of SPG7: 17 exons on the forward strand of chromosome 16Exon 1: 10 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 15 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 16 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 17: 9 known disease-causing sitesExon 1: 89,508,403–89,508,600, 198 basesExon 2: 89,510,490–89,510,592, 103 basesExon 3: 89,512,948–89,513,037, 90 basesExon 4: 89,524,006–89,524,247, 242 basesExon 5: 89,526,329–89,526,468, 140 basesExon 6: 89,529,477–89,529,579, 103 basesExon 7: 89,530,683–89,530,808, 126 basesExon 8: 89,531,904–89,532,066, 163 basesExon 9: 89,532,463–89,532,636, 174 basesExon 10: 89,544,648–89,544,772, 125 basesExon 11: 89,546,658–89,546,760, 103 basesExon 12: 89,548,003–89,548,113, 111 basesExon 13: 89,550,494–89,550,609, 116 basesExon 14: 89,552,979–89,553,135, 157 basesExon 15: 89,553,794–89,553,960, 167 basesExon 16: 89,554,486–89,554,563, 78 basesExon 17: 89,556,887–89,557,766, 880 bases1246810121416175′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 3.1 kb of the gene's 49.4 kb; 2,388 of those bases code for the protein.

How a genome test reads SPG7

155

positions in SPG7 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 49.4 kb of SPG7, introns included, not only the 3.1 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.). SPG7 gene: SPG7 matrix AAA peptidase subunit, paraplegin. Retrieved 16 October 2026, from https://dantelabs.com/genes/spg7

Vancouver

Dante Labs. SPG7 gene: SPG7 matrix AAA peptidase subunit, paraplegin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/spg7

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