Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: C9orf72 (C9orf72-SMCR8 complex subunit) Homo sapiens
Analyze
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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on C9orf72
Alliance Gene
NCBI 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



NHLBI Logo

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