C9orf72

GENE INFORMATION

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Gene name

C9orf72 (HGNC Symbol)

Synonyms

MGC23980

Description

Chromosome 9 open reading frame 72 (HGNC Symbol)

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]

Chromosome

9

Cytoband

p21.2

Chromosome location (bp)

27546544 - 27573864

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147894 (version 75.37)

Entrez gene

203228

UniProt

Q96LT7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96LT7

Antibodypedia

C9orf72 antibodies
 

PROTEIN VIEW

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C9orf72-001
 
C9orf72-003
 
C9orf72-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

C9orf72-001 ENSP00000369339
ENST00000380003
Q96LT7
Show all »
Show » Show » 481 54.3 No 0
C9orf72-003 ENSP00000369333
ENST00000379997
Q96LT7
Show all »
Show » Show » 222 24.8 No 0
C9orf72-005 ENSP00000369331
ENST00000379995
Q96LT7
Show all »
Show » Show » 222 24.8 No 0