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Gene: C9orf72 (C9orf72-SMCR8 complex subunit) Homo sapiens
Symbol: C9orf72
Name: C9orf72-SMCR8 complex subunit
Description: Exhibits Rab GTPase binding activity. Contributes to Rab guanyl-nucleotide exchange factor activity. Involved in several processes, including axon extension; regulation of macroautophagy; and stress granule assembly. Localizes to several cellular components, including the axon; cytoplasmic ribonucleoprotein granule; and vacuole. Colocalizes with the Atg1/ULK1 kinase complex. Implicated in FTDALS1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALSFTD; chromosome 9 open reading frame 72; DENND9; DENNL72; FTDALS; FTDALS1; guanine nucleotide exchange C9orf72; hypothetical protein LOC203228; MGC23980; RP11-27J8.2; uncharacterized protein C9orf72
Mus musculus (house mouse) : C9orf72 (C9orf72, member of C9orf72-SMCR8 complex)  MGI  Alliance
Rattus norvegicus (Norway rat) : RGD1359108 (similar to RIKEN cDNA 3110043O21)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : C9orf72 (C9orf72-SMCR8 complex subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : C9orf72 (C9orf72-SMCR8 complex subunit)
Canis lupus familiaris (dog) : C11H9orf72 (chromosome 11 C9orf72 homolog)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : C9orf72 (C9orf72-SMCR8 complex subunit)
Sus scrofa (pig) : C9orf72 (C9orf72-SMCR8 complex subunit)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38927,546,546 - 27,573,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37927,546,543 - 27,573,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36927,536,544 - 27,563,842 (-)NCBINCBI36hg18NCBI36
Celera927,474,665 - 27,501,967 (-)NCBI
Cytogenetic Map9p21.2NCBI
HuRef927,499,333 - 27,526,665 (-)NCBIHuRef
CHM1_1927,546,337 - 27,573,669 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on C9orf72
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1602828
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.