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Aliases for AGGF1 Gene

Aliases for AGGF1 Gene

  • Angiogenic Factor With G-Patch And FHA Domains 1 2 3 5
  • G Patch Domain-Containing Protein 7 3 4
  • Vasculogenesis Gene On 5q Protein 3 4
  • Angiogenic Factor VG5Q 3 4
  • GPATCH7 3 4
  • GPATC7 3 4
  • VG5Q 3 4
  • Angiogenic Factor With G Patch And FHA Domains 1 3
  • HSU84971 3
  • HUS84971 3
  • HVG5Q 4

External Ids for AGGF1 Gene

Previous GeneCards Identifiers for AGGF1 Gene

  • GC05P076362
  • GC05P071532

Summaries for AGGF1 Gene

Entrez Gene Summary for AGGF1 Gene

  • 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 by RefSeq, Sep 2010]

GeneCards Summary for AGGF1 Gene

AGGF1 (Angiogenic Factor With G-Patch And FHA Domains 1) is a Protein Coding gene. Diseases associated with AGGF1 include Klippel-Trenaunay-Weber Syndrome and Venous Malformations, Multiple Cutaneous And Mucosal. Among its related pathways are HIV Life Cycle and Oncogenic MAPK signaling. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ENSG00000285000.

UniProtKB/Swiss-Prot for AGGF1 Gene

  • 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.

Gene Wiki entry for AGGF1 Gene

Additional gene information for AGGF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGGF1 Gene

Genomics for AGGF1 Gene

GeneHancer (GH) Regulatory Elements for AGGF1 Gene

Promoters and enhancers for AGGF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J077029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 656.3 +1.4 1420 2.5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 AGGF1 ENSG00000285000 ENSG00000250615 SNORA47 ZBED3-AS1 CRHBP
GH05J077055 Promoter 0.5 EPDnew 650.3 +26.3 26328 0.1 AGGF1 SNORA47 ZBED3-AS1 CRHBP ENSG00000250615 ENSG00000285000
GH05J077059 Promoter 0.5 EPDnew 650.3 +30.4 30416 0.1 AGGF1 SNORA47 ZBED3-AS1 ENSG00000250615 ENSG00000285000
GH05J077645 Enhancer 1.6 VISTA UCNEbase 10 +616.0 616040 0.6 HDGF ARNT YBX1 GLI4 ZNF2 ZNF416 ZNF143 KLF7 ZNF548 ZNF202 RPL7P23 SCAMP1 WDR41 AP3B1 AGGF1 OTP GC05M077675
GH05J076541 Enhancer 1.3 Ensembl ENCODE dbSUPER 10 -485.9 -485864 3.4 HDGF PKNOX1 ATF1 FEZF1 NCOA2 YY1 TCF12 ZNF143 ATF7 RUNX3 POC5 AGGF1 IQGAP2 F2RL2 GC05M076503 GC05M076583
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGGF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGGF1 gene promoter:
  • Pax-5
  • HNF-1A
  • HNF-1
  • HEN1
  • AML1a
  • En-1
  • C/EBPalpha
  • POU2F1
  • POU2F1a
  • Nkx2-5

Genomic Locations for AGGF1 Gene

Genomic Locations for AGGF1 Gene
35,984 bases
Plus strand
35,984 bases
Plus strand

Genomic View for AGGF1 Gene

Genes around AGGF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGGF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGGF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGGF1 Gene

Proteins for AGGF1 Gene

  • Protein details for AGGF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Angiogenic factor with G patch and FHA domains 1
    Protein Accession:
    Secondary Accessions:
    • O00581
    • Q53YS3
    • Q9BU84
    • Q9NW66

    Protein attributes for AGGF1 Gene

    714 amino acids
    Molecular mass:
    80977 Da
    Quaternary structure:
    • Interacts with the secreted angiogenic factor TNFSF12.
    • Sequence=AAH29382.2; Type=Erroneous termination; Positions=708; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=BAA91519.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGGF1 Gene


neXtProt entry for AGGF1 Gene

Post-translational modifications for AGGF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGGF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AGGF1 Gene

Domains & Families for AGGF1 Gene

Gene Families for AGGF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AGGF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AGGF1: view

No data available for UniProtKB/Swiss-Prot for AGGF1 Gene

Function for AGGF1 Gene

Molecular function for AGGF1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for AGGF1 Gene

Gene Ontology (GO) - Molecular Function for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA --
GO:0005515 protein binding IPI 14961121
genes like me logo Genes that share ontologies with AGGF1: view
genes like me logo Genes that share phenotypes with AGGF1: view

Human Phenotype Ontology for AGGF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGGF1 Gene

MGI Knock Outs for AGGF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for AGGF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGGF1 Gene

Localization for AGGF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGGF1 Gene

Cytoplasm. Secreted. Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGGF1 gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 3
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,IEA 14961121
GO:0005737 cytoplasm IEA,IDA 14961121
GO:0016607 nuclear speck IBA --
GO:0048471 perinuclear region of cytoplasm IDA 14961121
genes like me logo Genes that share ontologies with AGGF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGGF1 Gene

Pathways & Interactions for AGGF1 Gene

genes like me logo Genes that share pathways with AGGF1: view

Pathways by source for AGGF1 Gene

Gene Ontology (GO) - Biological Process for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001570 vasculogenesis TAS 15905966
GO:0001938 positive regulation of endothelial cell proliferation IDA 14961121
GO:0006397 mRNA processing IBA --
GO:0007155 cell adhesion IDA 14961121
genes like me logo Genes that share ontologies with AGGF1: view

No data available for SIGNOR curated interactions for AGGF1 Gene

Drugs & Compounds for AGGF1 Gene

No Compound Related Data Available

Transcripts for AGGF1 Gene

mRNA/cDNA for AGGF1 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(177) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AGGF1 Gene

Angiogenic factor with G patch and FHA domains 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AGGF1 Gene

No ASD Table

Relevant External Links for AGGF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AGGF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGGF1 Gene

Protein differential expression in normal tissues from HIPED for AGGF1 Gene

This gene is overexpressed in Cerebrospinal fluid (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGGF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AGGF1 Gene:


SOURCE GeneReport for Unigene cluster for AGGF1 Gene:


mRNA Expression by UniProt/SwissProt for AGGF1 Gene:

Tissue specificity: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.

Evidence on tissue expression from TISSUES for AGGF1 Gene

  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGGF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • heart
  • lung
  • thymus
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • lymph vessel
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with AGGF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for AGGF1 Gene

Orthologs for AGGF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGGF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGGF1 34 33
  • 99.44 (n)
(Canis familiaris)
Mammalia AGGF1 34 33
  • 90.72 (n)
(Bos Taurus)
Mammalia AGGF1 34 33
  • 89.6 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
-- 34
  • 72 (a)
(Rattus norvegicus)
Mammalia Aggf1 33
  • 79.34 (n)
(Mus musculus)
Mammalia Aggf1 16 34 33
  • 79.25 (n)
(Monodelphis domestica)
Mammalia AGGF1 34
  • 76 (a)
(Gallus gallus)
Aves AGGF1 34 33
  • 70.97 (n)
(Anolis carolinensis)
Reptilia AGGF1 34
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aggf1 33
  • 64.03 (n)
Str.19637 33
(Danio rerio)
Actinopterygii aggf1 34
  • 42 (a)
Dr.17256 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.661 33
fruit fly
(Drosophila melanogaster)
Insecta CG8079 34
  • 30 (a)
(Caenorhabditis elegans)
Secernentea Y55D9A.2 34
  • 23 (a)
Species where no ortholog for AGGF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGGF1 Gene

Gene Tree for AGGF1 (if available)
Gene Tree for AGGF1 (if available)
Evolutionary constrained regions (ECRs) for AGGF1: view image

Paralogs for AGGF1 Gene

Variants for AGGF1 Gene

Sequence variations from dbSNP and Humsavar for AGGF1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs34203073 likely-benign, not specified, Klippel-Trenaunay syndrome (KTS) [MIM:149000] 77,035,624(+) G/A coding_sequence_variant, missense_variant
rs1000023431 -- 77,031,093(+) G/A intron_variant
rs1000065307 -- 77,063,240(+) G/A coding_sequence_variant, synonymous_variant
rs1000244283 -- 77,045,028(+) G/C intron_variant
rs1000278496 -- 77,056,708(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AGGF1 Gene

Variant ID Type Subtype PubMed ID
nsv1027236 CNV gain 25217958
nsv823102 CNV gain 20364138
nsv830355 CNV gain 17160897
nsv968212 CNV duplication 23825009

Variation tolerance for AGGF1 Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGGF1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGGF1 Gene

Disorders for AGGF1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AGGF1 Gene - From: HGMD, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
klippel-trenaunay-weber syndrome
  • ktw syndrome
venous malformations, multiple cutaneous and mucosal
  • vmcm
metatypical basal cell carcinoma
  • basosquamous carcinoma of skin
varicose veins
  • varices
bladder urothelial carcinoma
  • bladder transitional cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search AGGF1 in MalaCards View complete list of genes associated with diseases


  • Klippel-Trenaunay syndrome (KTS) [MIM:149000]: Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. {ECO:0000269 PubMed:14961121}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AGGF1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AGGF1: view

No data available for Genatlas for AGGF1 Gene

Publications for AGGF1 Gene

  1. The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. (PMID: 17103452) Gutierrez S … Lapunzina P (American journal of medical genetics. Part A 2006) 2 3 22 44 58
  2. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. (PMID: 18564129) Hu Y … Wang QK (Annals of human genetics 2008) 2 3 44 58
  3. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. (PMID: 14961121) Tian XL … Wang Q (Nature 2004) 3 4 22 58
  4. Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function. (PMID: 19556247) Fan C … Wang QK (The Journal of biological chemistry 2009) 3 22 58
  5. Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (PMID: 16443853) Barker KT … Harper J (Journal of medical genetics 2006) 3 22 58

Products for AGGF1 Gene

Sources for AGGF1 Gene

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