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Gene : C9orf72 Homo sapiens

Name  ? C9orf72-SMCR8 complex subunit Cytological Location  9p21.2
Brief Description  C9orf72-SMCR8 complex subunit
Description  The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
  • synonyms:
  • chromosome 9 open reading frame 72,
  • HGNC:28337,
  • FTDALS1,
  • uc022bfa.2,
  • DENNL72,
  • MGC23980,
  • C9orf72,
  • AL832467,
  • DENND9,
  • NM_018325,
  • DENNL72,
  • OTTHUMG00000019716,
  • DENND9
  • identifiers:
  • 203228,
  • ENSG00000147894,
  • C9orf72

Genome feature

Region: gene ? Length: 27321  
Location: 9:27546546-27573866 reverse strand Cyto location: 9p21.2

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results