help  | about  | cite  | software

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,
  • FTDALS,
  • NM_018325,
  • DENNL72,
  • OTTHUMG00000019716,
  • ALSFTD,
  • DENND9
  • identifiers:
  • 203228,
  • ENSG00000147894,
  • C9orf72

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results