Homo sapiens Gene: C9orf72

Summary
InnateDB Gene IDBG-55462.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol C9orf72
Gene Name chromosome 9 open reading frame 72
Synonyms ALSFTD; FTDALS
Species Homo sapiens
Ensembl Gene ENSG00000147894
Encoded Proteins
IDBP-55464 chromosome 9 open reading frame 72
IDBP-55466 chromosome 9 open reading frame 72
IDBP-55468 chromosome 9 open reading frame 72
Entrez Gene
Summary Expansion of a hexanucleotide repeat in non-coding 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). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 9: 27546544-27573864
Strand Reverse strand
Band p21.2
Transcripts
ENST00000380003  ENSP00000369339
ENST00000379997  ENSP00000369333
ENST00000379995  ENSP00000369331
ENST00000488117 
ENST00000461679 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein‑Protein  5
[view]
Protein‑DNA 0
Protein‑RNA 1
[view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
Biological Process
GO:0008219 cell death
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000028300 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000010059 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q96LT7 
TrEMBL Q9NUW0
UniProt Splice Variant
Entrez Gene 203228 
UniGene Hs.493639 Hs.620104 Hs.707054 Hs.707217 Hs.737447
RefSeq NM_001256054  NM_018325  NM_145005 
HUGO 28337 
OMIM 614260
CCDS CCDS6522  CCDS6523 
HPRD 12975
IMGT
EMBL AK001971 AK057806 AK291425 AL451123 BC068445 CH471071 JN681271
GenPept AAH68445  AET41697  BAA92009  BAB71583  BAF84114  CAI13043  CAI13044  EAW58558  EAW58560  EAW58561 
ImmGen C9orf72 (murine) 
RNA Seq Atlas 203228