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Gene

C9orf72

C9orf72-SMCR8 complex subunit

Summary

Cytogenetic location
9p21.2
Coordinates
Chromosome 9: 27,546,546–27,573,481 (GRCh38)
Exons
11 exons across 26.9 kb
Protein
481 amino acids
Inheritance
Autosomal dominant
Also known as
MGC23980, DENNL72, DENND9
MANE Select transcript
ENST00000380003.8NM_018325.5
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

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

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

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Frontotemporal Dementia

    • Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAutosomal dominant

      Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.

      • ClinGen rates the link definitive
      • 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 C9orf72 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
Chromosome 9, with a bracket where C9orf72 sits. C9orf72 and 6 genes near it on chromosome 9, from 27,060,014 to 28,060,013.Chromosome 99p21.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.327.2 Mb27.4 Mb27.6 Mb27.8 Mb28 MbIFT74: 26,947,039–27,066,198, forward strandIFT74TEK: 27,109,030–27,232,092, forward strandTEKEQTN: 27,284,654–27,297,150, reverse strandEQTNMOB3B: 27,325,209–27,529,829, reverse strandMOB3BIFNK: 27,524,290–27,526,498, forward strandIFNKC9orf72: 27,546,546–27,573,481, reverse strandC9orf72LINGO2: 27,937,617–29,213,913, reverse strandLINGO2Diagram of C9orf72: 11 exons on the reverse strand of chromosome 9Exon 11: 27,546,546–27,548,422, 1,877 basesExon 10: 27,548,557–27,548,666, 110 basesExon 9: 27,550,650–27,550,707, 58 basesExon 8: 27,556,561–27,556,796, 236 basesExon 7: 27,558,491–27,558,607, 117 basesExon 6: 27,560,227–27,560,299, 73 basesExon 5: 27,561,585–27,561,649, 65 basesExon 4: 27,562,381–27,562,476, 96 basesExon 3: 27,565,531–27,565,590, 60 basesExon 2: 27,566,677–27,567,164, 488 basesExon 1: 27,573,431–27,573,481, 51 bases11109876543215′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 3.2 kb of the gene's 26.9 kb; 1,446 of those bases code for the protein.

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.
  • 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.). C9orf72 gene: C9orf72-SMCR8 complex subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/c9orf72

Vancouver

Dante Labs. C9orf72 gene: C9orf72-SMCR8 complex subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/c9orf72

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