Homo sapiens Gene: C9orf72
Summary
InnateDB Gene IDBG-55462.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C9orf72
Gene Name chromosome 9 open reading frame 72
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000147894
Encoded Proteins
chromosome 9 open reading frame 72
chromosome 9 open reading frame 72
chromosome 9 open reading frame 72
chromosome 9 open reading frame 72
Protein Structure
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 9:27546545-27573866
Strand Reverse strand
Band p21.2
Transcripts
ENST00000380003 ENSP00000369339
ENST00000379997 ENSP00000369333
ENST00000379995 ENSP00000369331
ENST00000488117
ENST00000461679
ENST00000619707 ENSP00000482753
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
Biological Process
GO:0006897 endocytosis
GO:0006914 autophagy
GO:0008219 cell death
Cellular Component
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005776 autophagic vacuole
GO:0031410 cytoplasmic vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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 XM_006716739
HUGO HGNC: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