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] See more...

Aliases for AGGF1 Gene

Aliases for AGGF1 Gene

  • Angiogenic Factor With G-Patch And FHA Domains 1 2 3 5
  • Angiogenic Factor With G Patch And FHA Domains 1 3 4
  • 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
  • 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 Frontal Convexity Meningioma. Among its related pathways are Oncogenic MAPK signaling and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ENSG00000285000.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
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 EPDnew Ensembl ENCODE CraniofacialAtlas 506.7 +1.6 1550 2.8 ZBTB40 ZNF217 EP300 TCF12 SIN3A POLR2G SP1 GTF2E2 PHF8 ZFX AGGF1 ENSG00000285000 ENSG00000250615 SNORA47 ZBED3-AS1 CRHBP RF00017-4735
GH05J077055 Promoter 0.3 EPDnew 500.3 +26.3 26328 0.1 AGGF1 SNORA47 ZBED3-AS1 CRHBP piR-55657-199 ENSG00000250615 ENSG00000285000 RF00017-4735
GH05J077059 Promoter 0.3 EPDnew 500.3 +30.4 30416 0.1 AGGF1 SNORA47 ZBED3-AS1 ENSG00000250615 piR-55657-199 ENSG00000285000 RF00017-4735
GH05J076715 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -312.4 -312373 5 HNRNPK CTCF NRF1 PHF8 ZBTB10 POLR2A RBM34 ZBTB26 REST MYC F2R ENSG00000225407 F2RL2 F2RL1 AGGF1 RF00017-4730 lnc-F2R-2
GH05J076778 Enhancer 1 Ensembl ENCODE 21.6 -250.1 -250051 2 RBAK ZNF639 ZNF354C ZNF623 ZNF510 ZNF266 YY1 NANOG ZBTB11 ZNF426 RF00017-4733 piR-47675-089 piR-61945-407 RPL7P23 F2RL1 AGGF1 RF00017-4732
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGGF1

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

Genomic Locations for AGGF1 Gene

Genomic Locations for AGGF1 Gene
chr5:77,029,251-77,065,234
(GRCh38/hg38)
Size:
35,984 bases
Orientation:
Plus strand
chr5:76,325,076-76,361,059
(GRCh37/hg19)
Size:
35,984 bases
Orientation:
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:
    Q8N302-AGGF1_HUMAN
    Recommended name:
    Angiogenic factor with G patch and FHA domains 1
    Protein Accession:
    Q8N302
    Secondary Accessions:
    • O00581
    • Q53YS3
    • Q9BU84
    • Q9NW66

    Protein attributes for AGGF1 Gene

    Size:
    714 amino acids
    Molecular mass:
    80977 Da
    Quaternary structure:
    • Interacts with the secreted angiogenic factor TNFSF12.
    SequenceCaution:
    • Sequence=AAH29382.2; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAA91519.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGGF1 Gene

    UniProtKB/Swiss-Prot:

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

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

Protein Domains for AGGF1 Gene

Blocks:
  • Forkhead-associated (FHA)
  • D111/G-patch domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AGGF1 Gene

GenScript: Design optimal peptide antigens:
  • AGGF1 protein (A0JLT8_HUMAN)
  • cDNA FLJ75192 (A8K029_HUMAN)
  • Vasculogenesis gene on 5q protein (AGGF1_HUMAN)
  • Angiogenic factor with G patch and FHA domains 1 (Q6PIK7_HUMAN)
genes like me logo Genes that share domains with AGGF1: view

No data available for Graphical View of Domain Structure and 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: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

CRISPR Products

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

COMPARTMENTS
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
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 14961121
GO:0005737 cytoplasm IEA,IDA 14961121
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

SIGNOR curated interactions for AGGF1 Gene

Is activated by:

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:0007155 cell adhesion IDA 14961121
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with AGGF1: view

Drugs & Compounds for AGGF1 Gene

No Compound Related Data Available

Transcripts for AGGF1 Gene

mRNA/cDNA for AGGF1 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
AGGF1

Expression for AGGF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGGF1

SOURCE GeneReport for Unigene cluster for AGGF1 Gene:

Hs.634849

mRNA Expression by UniProt/SwissProt for AGGF1 Gene:

Q8N302-AGGF1_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
Thorax:
  • heart
  • lung
  • thymus
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia AGGF1 31 30
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGGF1 31 30
  • 90.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGGF1 31 30
  • 89.6 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aggf1 30
  • 79.34 (n)
mouse
(Mus musculus)
Mammalia Aggf1 17 31 30
  • 79.25 (n)
oppossum
(Monodelphis domestica)
Mammalia AGGF1 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGGF1 31 30
  • 70.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGGF1 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aggf1 30
  • 64.03 (n)
Str.19637 30
zebrafish
(Danio rerio)
Actinopterygii aggf1 31
  • 42 (a)
OneToOne
Dr.17256 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.661 30
fruit fly
(Drosophila melanogaster)
Insecta CG8079 31
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55D9A.2 31
  • 23 (a)
OneToOne
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

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

Paralogs for AGGF1 Gene

Variants for AGGF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGGF1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs34203073 Likely Benign: not specified. Klippel-Trenaunay syndrome (KTS) [MIM:149000] 77,035,624(+) G/Ap.Glu133Lys MISSENSE_VARIANT
rs17856835 - p.Leu471Pro
rs34400049 - p.Pro698Thr
rs9715897 - p.Thr180Ala

Additional dbSNP identifiers (rs#s) for AGGF1 Gene

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)
AGGF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGGF1

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

(11) MalaCards diseases for AGGF1 Gene - From: UniProtKB/Swiss-Prot, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AGGF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGGF1_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 41 54
  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 41 54
  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 23 54
  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 23 54
  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 23 54

Products for AGGF1 Gene

Sources for AGGF1 Gene