Aliases for AGAP6 Gene

Aliases for AGAP6 Gene

  • ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 6 2 3 5
  • Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 6 3 4
  • Centaurin-Gamma-Like Family Member 3 3 4
  • AGAP-6 3 4
  • CTGLF3 3 4
  • Centaurin, Gamma-Like Family, Member 3 2
  • BA324H6.1 2
  • AGAP6 5

External Ids for AGAP6 Gene

Previous HGNC Symbols for AGAP6 Gene

  • CTGLF3

Previous GeneCards Identifiers for AGAP6 Gene

  • GC10P051420
  • GC10P051748
  • GC10P049973

Summaries for AGAP6 Gene

GeneCards Summary for AGAP6 Gene

AGAP6 (ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 6) is a Protein Coding gene. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot Summary for AGAP6 Gene

Additional gene information for AGAP6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGAP6 Gene

Genomics for AGAP6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGAP6 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
GH10J049989 Promoter 0.3 EPDnew 600.4 +6.2 6159 0.1 ENSG00000285803 piR-53124-006 AGAP6 TIMM23B-AGAP6 WASHC2A
GH10J049988 Promoter 0.3 EPDnew 600.4 +6.4 6399 0.1 ENSG00000285803 piR-53124-006 AGAP6 TIMM23B-AGAP6 WASHC2A
GH10J050618 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 41 +640.2 640196 8.4 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 REST ZNF629 LEF1 IKZF1 SGMS1-AS1 KR020024 SGMS1 lnc-ASAH2-6 lnc-ASAH2-7 AGAP6 TIMM23B-AGAP6 BEND3P1 WASHC2A PARG
GH10J049982 Enhancer 0.2 Ensembl 633.5 +1.1 1111 1.4 AGAP6 ENSG00000285803 piR-53124-006 TIMM23B-AGAP6 WASHC2A
GH10J050067 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 39.8 +86.2 86211 3.2 ZNF221 SP1 CREB1 ZNF629 TFE3 LEF1 POLR2A ZNF692 BACH1 FOS WASHC2A FAM21EP lnc-PARG-1 TIMM23B-AGAP6 ERCC6 AGAP6 PARG RNA5SP317 SGMS1-AS1 SGMS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGAP6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGAP6

Top Transcription factor binding sites by QIAGEN in the AGAP6 gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • HFH-1
  • Pax-4a
  • Tal-1beta

Genomic Locations for AGAP6 Gene

Genomic Locations for AGAP6 Gene
chr10:49,982,190-50,010,516
(GRCh38/hg38)
Size:
28,327 bases
Orientation:
Plus strand
chr10:51,748,078-51,770,259
(GRCh37/hg19)
Size:
22,182 bases
Orientation:
Plus strand

Genomic View for AGAP6 Gene

Genes around AGAP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGAP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGAP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGAP6 Gene

Proteins for AGAP6 Gene

  • Protein details for AGAP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VW22-AGAP6_HUMAN
    Recommended name:
    Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6
    Protein Accession:
    Q5VW22

    Protein attributes for AGAP6 Gene

    Size:
    663 amino acids
    Molecular mass:
    73127 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BC131545; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Encoded by one of the numerous copies of centaurin gamma-like genes clustered in the q11 region of chromosome 10.
    • [Isoform 1]: Prediction based on family homologs sequence.

    Alternative splice isoforms for AGAP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGAP6 Gene

Post-translational modifications for AGAP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGAP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AGAP6 Gene

Domains & Families for AGAP6 Gene

Gene Families for AGAP6 Gene

Protein Domains for AGAP6 Gene

InterPro:
Blocks:
  • HIV Rev interacting protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for AGAP6 Gene

GenScript: Design optimal peptide antigens:
  • Centaurin-gamma-like family member 3 (AGAP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VW22

UniProtKB/Swiss-Prot:

AGAP6_HUMAN :
  • Belongs to the centaurin gamma-like family.
Family:
  • Belongs to the centaurin gamma-like family.
genes like me logo Genes that share domains with AGAP6: view

Function for AGAP6 Gene

Molecular function for AGAP6 Gene

UniProtKB/Swiss-Prot Function:
Putative GTPase-activating protein.

Phenotypes From GWAS Catalog for AGAP6 Gene

Gene Ontology (GO) - Molecular Function for AGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AGAP6: view
genes like me logo Genes that share phenotypes with AGAP6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGAP6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AGAP6 Gene

Localization for AGAP6 Gene

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 AGAP6 gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 0

Gene Ontology (GO) - Cellular Components for AGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with AGAP6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for AGAP6 Gene

Pathways & Interactions for AGAP6 Gene

PathCards logo

SuperPathways for AGAP6 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with AGAP6: view

Pathways by source for AGAP6 Gene

1 KEGG pathway for AGAP6 Gene

Interacting Proteins for AGAP6 Gene

Gene Ontology (GO) - Biological Process for AGAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with AGAP6: view

No data available for SIGNOR curated interactions for AGAP6 Gene

Drugs & Compounds for AGAP6 Gene

No Compound Related Data Available

Transcripts for AGAP6 Gene

mRNA/cDNA for AGAP6 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGAP6

Alternative Splicing Database (ASD) splice patterns (SP) for AGAP6 Gene

No ASD Table

Relevant External Links for AGAP6 Gene

GeneLoc Exon Structure for
AGAP6

Expression for AGAP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGAP6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGAP6

SOURCE GeneReport for Unigene cluster for AGAP6 Gene:

Hs.536158
genes like me logo Genes that share expression patterns with AGAP6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGAP6 Gene

Orthologs for AGAP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGAP6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTGLF2 30
  • 97.78 (n)
-- 31
  • 95 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 73 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 45 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 57 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 63 (a)
ManyToMany
-- 31
  • 11 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii agap1 31
  • 47 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta cenG1A 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cnt-2 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToMany
Species where no ortholog for AGAP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for AGAP6 Gene

ENSEMBL:
Gene Tree for AGAP6 (if available)
TreeFam:
Gene Tree for AGAP6 (if available)

Paralogs for AGAP6 Gene

(15) SIMAP similar genes for AGAP6 Gene using alignment to 1 proteins:

  • AGAP6_HUMAN
genes like me logo Genes that share paralogs with AGAP6: view

Variants for AGAP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGAP6 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
769369 Benign: not provided 50,008,914(+) CAA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for AGAP6 Gene

Structural Variations from Database of Genomic Variants (DGV) for AGAP6 Gene

Variant ID Type Subtype PubMed ID
esv26750 CNV loss 19812545
nsv1051087 CNV loss 25217958
nsv8655 CNV loss 18304495
nsv947999 CNV duplication 23825009
nsv950961 CNV deletion 24416366
nsv971757 CNV duplication 23825009
nsv971758 CNV duplication 23825009
nsv971760 CNV duplication 23825009
nsv971761 CNV duplication 23825009
nsv971762 CNV duplication 23825009
nsv974943 CNV duplication 23825009
nsv975702 CNV duplication 23825009
nsv982764 CNV duplication 23825009
nsv982769 CNV duplication 23825009
nsv982770 CNV duplication 23825009

Variation tolerance for AGAP6 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.94; 87.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGAP6 Gene

Human Gene Mutation Database (HGMD)
AGAP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGAP6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGAP6 Gene

Disorders for AGAP6 Gene

Additional Disease Information for AGAP6

No disorders were found for AGAP6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AGAP6 Gene

Publications for AGAP6 Gene

  1. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. (PMID: 30652415) Liu Y … Chen L (Cancer medicine 2019) 3
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for AGAP6 Gene

Sources for AGAP6 Gene