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C9orf72 Gene Detail
Summary
  • Symbol
    C9orf72
  • Name
    C9orf72, member of C9orf72-SMCR8 complex
  • Synonyms
    3110043O21Rik, Dennd9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920455
    NCBI Gene: 73205
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:35191285-35226153 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 17.13 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1000 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920455
 protein coding gene Chr4:35191285-35226175 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028137
 protein coding gene Chr4:32807264-32842605 (-)
A/J MGP_AJ_G0028095
 protein coding gene Chr4:31612312-31646158 (-)
AKR/J MGP_AKRJ_G0028058
 protein coding gene Chr4:32448350-32485385 (-)
BALB/cJ MGP_BALBcJ_G0028107
 protein coding gene Chr4:31885721-31921497 (-)
C3H/HeJ MGP_C3HHeJ_G0027835
 protein coding gene Chr4:32771903-32805118 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028548
 protein coding gene Chr4:34059135-34089619 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025889
 protein coding gene Chr4:29690765-29724975 (-)
CAST/EiJ MGP_CASTEiJ_G0027291
 protein coding gene Chr4:32566557-32602202 (-)
CBA/J MGP_CBAJ_G0027807
 protein coding gene Chr4:35176396-35211749 (-)
DBA/2J MGP_DBA2J_G0027951
 protein coding gene Chr4:31577746-31610838 (-)
FVB/NJ MGP_FVBNJ_G0027918
 protein coding gene Chr4:31001463-31033650 (-)
LP/J MGP_LPJ_G0028059
 protein coding gene Chr4:32914873-32946505 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027951
 protein coding gene Chr4:37783422-37823150 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028607
 protein coding gene Chr4:32472961-32509807 (-)
PWK/PhJ MGP_PWKPhJ_G0027009
 protein coding gene Chr4:31615264-31652184 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026838
 protein coding gene Chr4:32343336-32378994 (-)
WSB/EiJ MGP_WSBEiJ_G0027367
 protein coding gene Chr4:32467573-32501437 (-)



Homology
more
  • Human Ortholog
    C9orf72, C9orf72-SMCR8 complex subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C9orf72, C9orf72-SMCR8 complex subunit
  • Synonyms
    ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
  • Links
    NCBI Gene ID: 203228
    neXtProt AC: NX_Q96LT7
    UniProt: Q96LT7

  • Chr Location
    9p21.2; chr9:27535640-27573866 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with C9orf72 mouse models; 1 with human C9orf72 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 6 alleles in 4 genetic backgrounds
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    85
  • GO References
    16
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    926
  • Tissues
    58
  • cDNA Data
    48
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 73205 NCBI Gene Model | MGI Sequence Detail 34869 C57BL/6J ±  kb
    transcript NM_001081343 RefSeq | MGI Sequence Detail 3151 C57BL/6  
    polypeptide Q6DFW0 UniProt | EBI | MGI Sequence Detail 481 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 48

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2140370, MGI:6162260
    References
    more
    • Summaries
      All 85
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 16
      Phenotypes 35
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:351854 Nelson AT, et al., Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes. EMBO Rep. 2024 May;25(5):2479-2510
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory