ENSG00000164252


Homo sapiens

Features
Gene ID: ENSG00000164252
  
Biological name :AGGF1
  
Synonyms : AGGF1 / angiogenic factor with G-patch and FHA domains 1 / Q8N302
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q13.3
Gene start: 77029251
Gene end: 77065234
  
Corresponding Affymetrix probe sets: 208042_at (Human Genome U133 Plus 2.0 Array)   210710_at (Human Genome U133 Plus 2.0 Array)   218534_s_at (Human Genome U133 Plus 2.0 Array)   222661_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420874
Ensembl peptide - ENSP00000424733
Ensembl peptide - ENSP00000316109
NCBI entrez gene - 55109     See in Manteia.
OMIM - 608464
RefSeq - NM_018046
RefSeq Peptide - NP_060516
swissprot - H0Y8F8
swissprot - Q8N302
Ensembl - ENSG00000164252
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aggf1ENSDARG00000060109Danio rerio
 ENSGALG00000004311Gallus gallus
 Aggf1ENSMUSG00000021681Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC008581.2ENSG0000028500085


Protein motifs (from Interpro)
Interpro ID Name
 IPR000253  Forkhead-associated (FHA) domain
 IPR000467  G-patch domain
 IPR008984  SMAD/FHA domain superfamily
 IPR035624  AGGF1, OCRE domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001570 vasculogenesis TAS
 biological_processGO:0001938 positive regulation of endothelial cell proliferation IDA
 biological_processGO:0007155 cell adhesion IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045766 positive regulation of angiogenesis IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Signaling by BRAF and RAF fusions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000098 Increased body height 
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 HP:0000140 Menstrual abnormalities 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0001028 Hemangiomas "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001541 Ascites 
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001702 Abnormality of the tricuspid valve "An abnormality of the `tricuspid valve` (FMA:7234)." [HPO:probinson]
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 HP:0001789 Hydrops fetalis 
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 HP:0001935 Microcytic anemia 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002204 Pulmonary embolism 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0003010 Prolonged bleeding time 
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 HP:0004414 Abnormality of the pulmonary artery 
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 HP:0004936 Venous thrombosis 
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 HP:0005293 Frequent early-onset venous insufficiency 
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 HP:0100559 Lower limb asymmetry 
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 HP:0100560 Upper limb asymmetry 
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 HP:0100658 Cellulitis 
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 HP:0100724 Hypercoagulability 
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 HP:0100784 Peripheral arteriovenous fistula 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164252 AGGF1 / Q8N302 / angiogenic factor with G-patch and FHA domains 1  / complex






 

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