Gene Gene information from NCBI Gene database.
Entrez ID 55109
Gene name Angiogenic factor with G-patch and FHA domains 1
Gene symbol AGGF1
Synonyms (NCBI Gene)
GPATC7GPATCH7HSU84971HUS84971VG5Q
Chromosome 5
Chromosome location 5q13.3
Summary This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided
miRNA miRNA information provided by mirtarbase database.
166
miRTarBase ID miRNA Experiments Reference
MIRT019345 hsa-miR-148b-3p Microarray 17612493
MIRT030831 hsa-miR-21-5p Microarray 18591254
MIRT049919 hsa-miR-30a-3p CLASH 23622248
MIRT037003 hsa-miR-877-3p CLASH 23622248
MIRT097311 hsa-miR-4307 PAR-CLIP 22100165
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GATA1 Activation 19556247
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001570 Process Vasculogenesis TAS 15905966
GO:0001938 Process Positive regulation of endothelial cell proliferation IDA 14961121
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 14961121, 16189514, 31515488, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608464 24684 ENSG00000164252
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N302
Protein name Angiogenic factor with G patch and FHA domains 1 (Angiogenic factor VG5Q) (hVG5Q) (G patch domain-containing protein 7) (Vasculogenesis gene on 5q protein)
Protein function Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17780 OCRE 203 254 OCRE domain Domain
PF00498 FHA 434 508 FHA domain Family
PF01585 G-patch 619 662 G-patch domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells. {ECO:0000269|PubMed:14961121}.
Sequence
MASEAPSPPRSPPPPTSPEPELAQLRRKVEKLERELRSCKRQVREIEKLLHHTERLYQNA
ESNNQELRTQVEELSKILQRGRNEDNKKSDVEVQTENHAPWSISDYFYQTYYNDVSLPNK
VTELSDQQDQAIETSILNSKDHLQVENDAYPGTDRTENVKYRQVDHFASNSQEPASALAT
EDTSLEGSSLAESLRAAAEAAVSQTGFSYDENTGLYFDHSTGFYYDSENQLYYDPSTGIY
YYCDVESGRYQFHS
RVDLQPYPTSSTKQSKDKKLKKKRKDPDSSATNEEKDLNSEDQKAF
SVEHTSCNEEENFANMKKKAKIGIHHKNSPPKVTVPTSGNTIESPLHENISNSTSFKDEK
IMETDSEPEEGEITDSQTEDSYDEAITSEGNVTAEDSEDEDEDKIWPPCIRVIVIRSPVL
QIGSLFIITAVNPATIGREKDMEHTLRIPEVGVSKFHAEIYFDHDLQSYVLVDQGSQNGT
IVNGKQILQPKTKCDPYVLEHGDEVKIG
ETVLSFHIHPGSDTCDGCEPGQVRAHLRLDKK
DESFVGPTLSKEEKELERRKELKKIRVKYGLQNTEYEDEKTLKNPKYKDRAGKRREQVGS
EGTFQRDDAPASVHSEITDSNKGRKMLEKMGWKKGEGLGKDGGGMKTPIQLQLRRTHAGL
GT
GKPSSFEDVHLLQNKNKKNWDKARERFTENFPETKPQKDDPGTMPWVKGTLE
Sequence length 714
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by BRAF and RAF fusions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-syndromic syndactyly Likely pathogenic rs781603465 RCV002302837
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs77434353 RCV005903518
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Stimulate 32090983
Cerebrovascular Disorders Associate 29641288
Esophageal Neoplasms Associate 31858546, 32925786
Esophageal Squamous Cell Carcinoma Stimulate 32925786
Hypoxia Inhibit 24462738
Hypoxia Associate 31858546
Hypoxia Brain Inhibit 24462738
Klippel Trenaunay Weber Syndrome Associate 16443853, 18564129, 19556247, 29641288
Lymphatic Metastasis Associate 32925786
Neoplasms Associate 24462738, 31858546, 32090983, 32925786