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AGAP8 Gene

protein-coding   GIFtS: 34
GCID: GC10M051224

ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain...

(Previous names: centaurin, gamma-like family, member 5)
(Previous symbol: CTGLF5)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 81 2
CTGLF51 2 3
Centaurin, Gamma-Like Family, Member 51 2
Centaurin-Gamma-Like Family Member 52 3
AGAP-82 3
Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 82

External Ids:    HGNC: 234641   Entrez Gene: 7284042   Ensembl: ENSG000001741947   UniProtKB: Q5SRD33   

Export aliases for AGAP8 gene to outside databases

Previous GC identifer: GC10M050897


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AGAP8 Gene:
AGAP8 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 8) is a protein-coding gene. GO annotations related to this gene include phospholipid binding and ARF GTPase activator activity. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot: AGAP8_HUMAN, Q5SRD3
Function: Putative GTPase-activating protein (Potential)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.9  NT_030059.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGAP8 gene promoter:
         AML1a   Tal-1beta   FOXL1   FOXJ2 (long isoform)   HFH-1   FOXJ2   Pax-4a   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AGAP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGAP8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q11.23   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11.23

AGAP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGAP8 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M051224:  view genomic region     (about GC identifiers)

Start:
51,224,681 bp from pter      End:
51,371,321 bp from pter
Size:
146,641 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGAP8_HUMAN, Q5SRD3 (See protein sequence)
Recommended Name: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8  
Size: 663 amino acids; 73068 Da
Miscellaneous: Encoded by one of the numerous copies of centaurin gamma-like genes clustered in the q11 region of
chromosome 10

Explore the universe of human proteins at neXtProt for AGAP8: NX_Q5SRD3

Explore proteomics data for AGAP8 at MOPED


See AGAP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001071154.1  NP_001263272.1  NP_001263273.1  

ENSEMBL proteins: 
 ENSP00000473572   ENSP00000415452   ENSP00000470707  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
PLEKH: Pleckstrin homology (PH) domain containing
ANKRD: Ankyrin repeat domain containing
ArfGAP: ADP-ribosylation factor GTPase activating proteins

5 InterPro protein domains:
 IPR001849 Pleckstrin_homology
 IPR001164 ArfGAP
 IPR011993 PH_like_dom
 IPR002110 Ankyrin_rpt
 IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry Q5SRD3

ProtoNet protein and cluster: Q5SRD3

1 Blocks protein domain: IPB001164 HIV Rev interacting protein signature

UniProtKB/Swiss-Prot: AGAP8_HUMAN, Q5SRD3
Similarity: Belongs to the centaurin gamma-like family
Similarity: Contains 2 ANK repeats
Similarity: Contains 1 Arf-GAP domain
Similarity: Contains 1 PH domain


Find genes that share domains with AGAP8           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AGAP8_HUMAN, Q5SRD3
Function: Putative GTPase-activating protein (Potential)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0008060ARF GTPase activator activity IEA--
GO:0008270zinc ion binding IEA--
     
Find genes that share ontologies with AGAP8           About GenesLikeMe


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
extracellular1
mitochondrion1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGAP8
Interactions:

    Search GeneGlobe Interaction Network for AGAP8

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0032312regulation of ARF GTPase activity IEA--

Find genes that share ontologies with AGAP8           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for AGAP8



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for AGAP8 gene (3 alternative transcripts): 
NM_001077686.2  NM_001276343.1  NM_001276344.1  

Unigene Cluster for AGAP8:

ArfGAP with GTPase domain, ankyrin repeat and PH domain 8
Hs.536192  [show with all ESTs]
Unigene Representative Sequence: NM_001276343
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000602930 ENST00000425119(uc010qgy.2 uc001jij.3 uc021pqg.1 uc009xom.3 uc001jik.3)
ENST00000479304 ENST00000470172 ENST00000484805 ENST00000482521
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8 DOTS entries:

DT.445244  DT.92443635  DT.121289186  DT.102828606  DT.102840041  DT.101973107  DT.101979838  DT.95274220 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for AGAP8 (see all 8)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1:                                                                                                                                          
SP2:                                                                                                                                          
SP3:                          -     -     -     -                                                                                             
SP4:                    -     -     -     -           -                                                                                       
SP5:                          -     -     -     -     -     -     -     -                                                                     


ECgene alternative splicing isoforms for AGAP8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AGAP8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AGAP8 Expression
About this image

AGAP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AGAP8 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.536192
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for AGAP8 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
oppossum
(Monodelphis domestica)
Mammalia --
Uncharacterized protein
73(a)
1 → many
2(536230123-536278792)
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
57(a)
1 → many
7(5139160-5321453)
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
63(a)
10(a)
many ↔ many
many ↔ many
1(119629499-119789786)
1(119461547-119529618)
zebrafish
(Danio rerio)
Actinopterygii agap16
ArfGAP with GTPase domain, ankyrin repeat and PH d...
46(a)
1 → many
6(15964316-16312330) ENSDARG00000062123
fruit fly
(Drosophila melanogaster)
Insecta cenG1A6
centaurin gamma 1A
26(a)
1 → many
2L(13835567-13898715)
worm
(Caenorhabditis elegans)
Secernentea cnt-26
Protein CNT-2, isoform b
20(a)
1 → many
III(10655770-10677522) WBGene00000566


ENSEMBL Gene Tree for AGAP8 (if available)
TreeFam Gene Tree for AGAP8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AGAP8 gene
AGAP52  AGAP62  ASAP12  ARAP32  ACAP22  ACAP32  ASAP22  ARAP12  
AGAP32  ARAP22  AGAP22  AGAP42  AGAP12  ACAP12  AGAP72  AGAP102  
AGAP92  ASAP32  
Selected SIMAP similar genes for AGAP8 using alignment to 3 protein entries:     AGAP8_HUMAN (see all proteins) (see all similar genes):
AGAP4    AGAP6    AGAP7    AGAP5    CTGLF11P    FLJ00312
AGAP11    AGAP10    CENTG2    AGAP9    AGAP1    DKFZp761E2216
SMAP1    AGAP3    ADAP2    CCNYL2    CCNY    ARFGAP2

Find genes that share paralogs with AGAP8           About GenesLikeMe


1 Pseudogenes.org Pseudogene for AGAP8
PGOHUM00000238473


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AGAP8 (see all 69)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2020571371,2
F--51225002(+) CACTCG/ATCGGG 8 /D syn11Minor allele frequency- A:0.00EU 753
rs2001778661,2
F--51225181(+) GCAGCC/TGTCTC 8 S G mis11Minor allele frequency- T:0.02EU 451
rs2017359221,2
F--51225274(+) GGCCCA/GCAGCA 8 R W mis11Minor allele frequency- G:0.01EU 595
rs1996556821,2
F--51225281(+) AGCAGC/GTGCTG 8 H Q mis11Minor allele frequency- G:0.24EU 225
rs2014359461,2
F--51225375(+) CCCTCG/ATGGAC 8 /T /M mis11Minor allele frequency- A:0.01EU 891
rs2005807011,2
C,F--51225388(+) TTCTGA/TGGGTT 8 T S mis11Minor allele frequency- T:0.03EU 981
rs1996351061,2
F--51225501(+) GAGATC/TGCACA 8 Q R mis11Minor allele frequency- T:0.00EU 1299
rs775293921,2
C,F--51225507(+) GCACAC/TGGGAA 8 H R mis11Minor allele frequency- T:0.07EU 1299
rs2000416641,2
C--51225516(+) AAAGGC/TGGGTG 8 H R mis10--------
rs2006748381,2
C--51225563(+) ATGAGG/TACTCC 8 V syn10--------

HapMap Linkage Disequilibrium report for AGAP8 (51224681 - 51371321 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for AGAP8:    About this table    
Variant IDTypeSubtypePubMed ID
esv29227CNV Loss19812545
nsv8643CNV Loss18304495
esv32940CNV Loss17666407
nsv508580CNV Loss20534489
nsv895381CNV Gain21882294
nsv895382CNV Gain21882294
nsv428232CNV Gain+Loss18775914
dgv273e1CNV Complex17122850
dgv274e1CNV Complex17122850
nsv7203OTHER Inversion18451855

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for AGAP8 gene integrated from 10 sources:
(articles sorted by number of sources associating them with AGAP8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (Nature 2011)
  2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 728404 HGNC: 23464 Ensembl:ENSG00000174194 euGenes: HUgn728404 ECgene: AGAP8
H-InvDB: AGAP8

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AGAP8 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AGAP8 gene:
Search GeneIP for patents involving AGAP8

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search Addgene for plasmids for AGAP8
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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