ENSMUSG00000028300


Mus musculus

Features
Gene ID: ENSMUSG00000028300
  
Biological name :3110043O21Rik
  
Synonyms : 3110043O21Rik / Guanine nucleotide exchange C9orf72 homolog / Q6DFW0
  
Possible biological names infered from orthology : C9orf72 / chromosome 9 open reading frame 72 / Q96LT7
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: A5
Gene start: 35191285
Gene end: 35226175
  
Corresponding Affymetrix probe sets: 10512030 (MoGene1.0st)   1428468_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000103762
Ensembl peptide - ENSMUSP00000081775
Ensembl peptide - ENSMUSP00000103761
NCBI entrez gene - 73205     See in Manteia.
MGI - MGI:1920455
RefSeq - NM_001081343
RefSeq - XM_006538292
RefSeq - XM_006538293
RefSeq Peptide - NP_001074812
swissprot - A2ANZ2
swissprot - Q6DFW0
Ensembl - ENSMUSG00000028300
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 zgc:100846ENSDARG00000011837Danio rerio
 C9orf72ENSGALG00000001864Gallus gallus
 Q96LT7ENSG00000147894Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR027819  Guanine nucleotide exchange C9orf72


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001933 negative regulation of protein phosphorylation IMP
 biological_processGO:0006897 endocytosis IMP
 biological_processGO:0006914 autophagy IMP
 biological_processGO:0010506 regulation of autophagy IMP
 biological_processGO:0016239 positive regulation of macroautophagy IMP
 biological_processGO:0034063 stress granule assembly IMP
 biological_processGO:0048675 axon extension IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0110053 regulation of actin filament organization IMP
 biological_processGO:1902774 late endosome to lysosome transport IMP
 biological_processGO:1903432 regulation of TORC1 signaling IMP
 biological_processGO:1904425 negative regulation of GTP binding IMP
 biological_processGO:2000785 regulation of autophagosome assembly IMP
 cellular_componentGO:0000932 P-body IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0005776 autophagosome IDA
 cellular_componentGO:0010494 cytoplasmic stress granule IDA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031965 nuclear membrane ISO
 cellular_componentGO:0032045 guanyl-nucleotide exchange factor complex IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IDA
 cellular_componentGO:0043204 perikaryon ISO
 cellular_componentGO:0044295 axonal growth cone IDA
 cellular_componentGO:0044304 main axon IDA
 cellular_componentGO:1990316 Atg1/ULK1 kinase complex IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0017137 Rab GTPase binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000219 increased neutrophil count "greater than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Rrm1tm1.1Ofc/Rrm1tm1.1Ofc,Tg(CAG-Rrm2)#Rsw/Tg(CAG-Rrm2)#Rsw
Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rrm1tm1.1Ofc/Rrm1tm1.1Ofc,Tg(CAG-Rrm2)#Rsw/Tg(CAG-Rrm2)#Rsw
Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rrm1tm1.1Ofc/Rrm1tm1.1Ofc,Tg(CAG-Rrm2)#Rsw/Tg(CAG-Rrm2)#Rsw
Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rrm1tm1.1Ofc/Rrm1tm1.1Ofc,Tg(CAG-Rrm2)#Rsw/Tg(CAG-Rrm2)#Rsw
Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

 MP:0002351 abnormal cervical lymph node morphology "anomalous structure, development, or number of the lymph nodes found near the neck and shoulders" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rrm1tm1.1Ofc/Rrm1tm1.1Ofc,Tg(CAG-Rrm2)#Rsw/Tg(CAG-Rrm2)#Rsw
Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

 MP:0002451 abnormal macrophage physiology "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003691 abnormal microglial cell function "anomalous activity of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0005016 decreased lymphocyte number "fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0005059 lysosomal protein accumulation "buildup of protein in the lysosome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008027 abnormal spinal cord white matter morphology "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008503 abnormal spinal cord gray matter morphology "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Arhgap28tm2b(KOMP)Wtsi/Arhgap28tm2b(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008542 enlarged cervical lymph nodes "increased size of the lymph nodes found near the neck and shoulders" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0008828 abnormal lymph node cell ratio "deviation from the standard ratios of lymph node cell subpopulations compared to control samples" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0009626 abnormal celiac lymph node morphology 
Show

Allelic Composition: 3110043O21Riktm1Lagi/3110043O21Riktm1Lagi
Genetic Background: involves: C57BL/6 * C57BL/6N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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