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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AFAP1 Gene

protein-coding   GIFtS: 54
GCID: GC04M007682

actin filament associated protein 1

 Explore 9 diseases affiliated with
AFAP1 via our new
 Human Malady Compendium 
Biological research products
for AFAP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Actin Filament Associated Protein 11 2     AFAP1102
AFAP1 2 3     Actin Filament-Associated Protein 12
AFAP-1101 2 3     Actin Filament-Associated Protein, 110 KDa2
110 KDa Actin Filament-Associated Protein2 3     

External Ids:    HGNC: 240171   Entrez Gene: 603122   Ensembl: ENSG000001965267   OMIM: 6082525   UniProtKB: Q8N5563   

Export aliases for AFAP1 gene to outside databases

Previous GC identifer: GC04M007811


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AFAP1:
The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament
integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or
other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: AFAP1_HUMAN, Q8N556
Function: Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes
in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other
proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of
prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells

Gene Wiki entry for AFAP1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AFAP1 gene promoter:
         Sox5   Sp1   Pax-6   MEF-2A   CREB   SRY   deltaCREB   Sox9   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AFAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFAP1


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

Entrez Gene cytogenetic band: 4p16   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16

AFAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFAP1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M007682:  view genomic region     (about GC identifiers)

Start:
7,760,440 bp from pter      End:
7,941,653 bp from pter
Size:
181,214 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AFAP1_HUMAN, Q8N556 (See protein sequence)
Recommended Name: Actin filament-associated protein 1  
Size: 730 amino acids; 80725 Da
Subunit: Monomer and homomultimer. Interacts via its C-terminus with F-actin; probably involving AFAP1 multimers (By
similarity). Interacts with activated SRC SH3-SH2 domains. Interacts via its PH 1 domain with PRKCA, PRKCB and PRKCI
(By similarity)
Subcellular location: Cytoplasm, cytoskeleton. Note=Localizes with stress fibers in quiescent cells, concentrated in
cell motility structures such as lamellipodia, filopodia and membrane ruffles upon their induction
Miscellaneous: Knockdown in MDA-MB-231 cells resulted in loss of actin stress fibers, decreased adhesion and spreading
on fibronectin
Secondary accessions: A8K442 B4DMU2 E9PDT7 Q59EY5 Q9HBY1
Alternative splicing: 2 isoforms:  Q8N556-1   Q8N556-2   (No experimental confirmation available. Ref.2 (BAG60004) sequence is in conflict in position: 561:A->V)

Explore the universe of human proteins at neXtProt for AFAP1: NX_Q8N556

Post-translational modifications:

  • Phosphorylated on tyrosine residues by SRC1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N556

  • AFAP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001128119.1  NP_940997.1  

    ENSEMBL proteins: 
     ENSP00000353402   ENSP00000371983   ENSP00000410689   ENSP00000351245  

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    Uscn Proteins for AFAP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005884actin filament ----
    GO:0005925focal adhesion IDA--
    GO:0015629actin cytoskeleton IDA--


    AFAP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AFAP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q8N556

    ProtoNet protein and cluster: Q8N556

    1 Blocks protein family: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: AFAP1_HUMAN, Q8N556
    Similarity: Contains 2 PH domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AFAP1_HUMAN, Q8N556
    Function: Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes
    in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other
    proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of
    prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0017124SH3 domain binding ----
    GO:0042169SH2 domain binding ----


    AFAP1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AFAP1:
     High actin ratio cells 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response_IFN gamma signaling pathway
    Immune response IFN gamma signaling pathway1.00
    Immune response_IFN gamma signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AFAP1
        Immune response IFN gamma signaling pathway


    1 GeneGo (Thomson Reuters) Pathway for AFAP1
        Immune response IFN gamma signaling pathway



    AFAP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AFAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for AFAP1 (Q8N5563 ENSP000004106894) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCBP057713, ENSP000003053554I2D: score=3 STRING: ENSP00000305355
    PRKCDQ056553, ENSP000003316024I2D: score=3 STRING: ENSP00000331602
    PRKCGP051293, ENSP000002634314I2D: score=3 STRING: ENSP00000263431
    ACTC1P680323, ENSP000002903784I2D: score=2 STRING: ENSP00000290378
    PRKCZQ055133, ENSP000003678304I2D: score=2 STRING: ENSP00000367830
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009966regulation of signal transduction ----
    GO:0071260cellular response to mechanical stimulus ----


    AFAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AFAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFAP1
    2 Novoseek chemical compound relationships for AFAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 41.6 4 11641786 (1), 14755689 (1), 10380016 (1), 11607843 (1)
    tyrosine 34 8 11641786 (2), 15314167 (2), 15485829 (1), 11607843 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about AFAP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AFAP1 gene (3 alternative transcripts): 
    NM_001134647.1  NM_198595.2  NM_021638.4  

    Unigene Cluster for AFAP1:

    Actin filament associated protein 1
    Hs.529369  [show with all ESTs]
    Unigene Representative Sequence: NM_001134647
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360265 ENST00000505447 ENST00000513842 ENST00000382543 ENST00000508415
    ENST00000513856 ENST00000420658(uc011bwk.1) ENST00000358461(uc003gkg.1)


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    hsa-miR-513a-5p hsa-miR-128 hsa-miR-25 hsa-let-7a-2* hsa-miR-570 hsa-miR-4275 hsa-miR-183* hsa-miR-9
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    Additional cDNA sequence: 

    AB209676.1 AF188700.1 AK127962.1 AK290807.1 AK297631.1 BC015900.1 BC032777.1 D25248.1 
    XR_112616.1 

    6 DOTS entries:

    DT.97822158  DT.215914  DT.101956502  DT.121232595  DT.92067800  DT.100829322 

    24/126 AceView cDNA sequences (see all 126):

    CR606819 BF036843 AA292097 F02531 AA322072 NM_021638 BC032777 D57870 
    AI913295 AI188460 F08751 AI085991 R43661 F06246 BU616014 BU186955 
    BU164761 BX950996 AI468446 AI291099 AW151921 CB217097 NM_198595 BU686680 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for AFAP1 (see all 12)    About this scheme

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

    ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for AFAP1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AFAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGATACGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    AFAP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Late limb mesenchymal cells (LLM cells) (Primary Cell)Bone, Cartilage, Limb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AFAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFAP1

    SOURCE GeneReport for Unigene cluster: Hs.529369

    UniProtKB/Swiss-Prot: AFAP1_HUMAN, Q8N556
    Tissue specificity: Low expression in normal breast epithelial cell line MCF-10A and in tumorigenic breast cancer cell
    lines MCF-7, T-47D and ZR-75-1. Highly expressed in the invasive breast cancer cell lines MDA-MB-231 and MDA-MB-435.
    Overexpressed in prostate carcinoma

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for AFAP1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AFAP11 actin filament associated protein 1 79.4(n)
    87.39(a)
      374034  NM_204205.1  NP_989536.1 
    lizard
    (Anolis carolinensis)
    Reptilia AFAP16
    --
    82(a)
    1 ↔ 1
    4(79727096-79779002)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5683561 actin filament-associated protein 1-like 68.21(n)
    71.05(a)
      568356  XM_691682.3  XP_696774.3 


    ENSEMBL Gene Tree for AFAP1 (if available)
    TreeFam Gene Tree for AFAP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AFAP1 gene
    AFAP1L22  AFAP1L12  
    2 SIMAP similar genes for AFAP1 using alignment to 1 protein entry:     AFAP1_HUMAN:
    AFAP1L1    AFAP1L2

    AFAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for AFAP1
         10 CNVs: 47968 91917 91916 80172 80175 91915 80173 63741 91918 80174
         5 Indels: 98621 12401 46696 68661 60455
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AFAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for AFAP1

    (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.)
    About This Section

    AFAP1 for disorders           About GeneDecksing

    OMIM gene information: 608252    OMIM disorders: --

    9 diseases for AFAP1:    About MalaCards
    familial adenomatous polyposis    polyposis    prostate adenocarcinoma    prostatitis
    prostate carcinoma    adenocarcinoma    prostate cancer    breast cancer
    carcinoma


    Export disorders for AFAP1 gene to outside databases

    (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)
    About This Section

    PubMed articles for AFAP1 gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with AFAP1)
        Utopia: connect your pdf to the dynamic
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    1. AFAP-110 is required for actin stress fiber formation and cell adhesion in MDA-MB-231 breast cancer cells. (PubMed id 17520695)1, 2, 9 Dorfleutner A.... Flynn D.C. (2007)
    2. The intrinsic ability of AFAP-110 to alter actin filament integrity is linked with its ability to also activate cellular tyrosine kinases. (PubMed id 11641786)1, 3, 9 Baisden J.M....Flynn D.C. (2001)
    3. The actin filament-associated protein AFAP-110 is an adaptor protein that modulates changes in actin filament integrity. (PubMed id 11607843)1, 3, 9 Baisden J.M....Flynn D.C. (2001)
    4. Analysis of the role of the leucine zipper motif in regulating the ability of AFAP-110 to alter actin filament integrity. (PubMed id 14755689)1, 3, 9 Qian Y....Flynn D.C. (2004)
    5. AFAP-110 is overexpressed in prostate cancer and contributes to tumorigenic growth by regulating focal contacts. (PubMed id 17885682)2, 9 Zhang J.... Gallick G.E. (2007)
    6. Conversion of mechanical force into biochemical signaling. (PubMed id 15485829)2, 9 Han B....Liu M. (2004)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 60312 HGNC: 24017 AceView: AFAP Ensembl:ENSG00000196526 euGenes: HUgn60312
    ECgene: AFAP1 H-InvDB: AFAP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AFAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AFAP1 gene:
    Search GeneIP for patents involving AFAP1

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



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