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

PHACTR1 Gene

protein-coding   GIFtS: 52
GCID: GC06P012717

Phosphatase And Actin Regulator 1

(Previous name: RPEL repeat containing 1)
(Previous symbol: RPEL1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phosphatase And Actin Regulator 11 2
RPEL11 2 3
RPEL Repeat Containing 11 2
RPEL2
dJ257A7.22
KIAA17333

External Ids:    HGNC: 209901   Entrez Gene: 2216922   Ensembl: ENSG000001121377   OMIM: 6087235   UniProtKB: Q9C0D03   

Export aliases for PHACTR1 gene to outside databases

Previous GC identifers: GC06P012826 GC06P012827


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

GeneCards Summary for PHACTR1 Gene: 
PHACTR1 (phosphatase and actin regulator 1) is a protein-coding gene. Diseases associated with PHACTR1 include migraine without aura, and gigantism. GO annotations related to this gene include actin binding and protein phosphatase inhibitor activity.

UniProtKB/Swiss-Prot: PHAR1_HUMAN, Q9C0D0
Function: Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in
formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by
endothelial cells. Regulates PPP1CA activity. Required for normal cell survival




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHACTR1 gene promoter:
         HOXA9   HOXA9B   Gfi-1   Meis-1b   MEF-2A   FOXJ2 (long isoform)   FOXJ2   aMEF-2   FOXO1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHACTR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PHACTR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHACTR1


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

Entrez Gene cytogenetic band: 6p24.1   Ensembl cytogenetic band:  6p24.1   HGNC cytogenetic band: 6p23

PHACTR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHACTR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P012717:  view genomic region     (about GC identifiers)

Start:
12,717,037 bp from pter      End:
13,288,645 bp from pter
Size:
571,609 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PHAR1_HUMAN, Q9C0D0 (See protein sequence)
Recommended Name: Phosphatase and actin regulator 1  
Size: 580 amino acids; 66308 Da
Subunit: Interacts (via RPEL repeats) with ACTA1 and PPP1CA; ACTA1 and PPP1CA compete for the same binding site
Subcellular location: Cytoplasm (By similarity). Cell junction, synapse (By similarity). Nucleus (By similarity).
Note=Enriched at synapses (By similarity). Cytoplasmic in resting cells, and is imported into the nucleus upon
serum stimulation. Interaction with actin prevents nuclear import (By similarity)
Sequence caution: Sequence=BAB21824.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K1V2 Q3MJ93 Q5JSJ2
Alternative splicing: 2 isoforms:  Q9C0D0-1   Q9C0D0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PHACTR1: NX_Q9C0D0

Explore proteomics data for PHACTR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9C0D0

  • PHACTR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PHACTR1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229577.1  NP_112210.1  

    ENSEMBL proteins: 
     ENSP00000368655   ENSP00000368653   ENSP00000384760   ENSP00000412573   ENSP00000395948  
     ENSP00000368639   ENSP00000368633   ENSP00000329880   ENSP00000397669   ENSP00000368650  

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    Cloud-Clone Corp. Proteins for PHACTR1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol ISS--
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--

    PHACTR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PHACTR: Phosphatase and actin regulators

    1 InterPro protein domain:
     IPR004018 RPEL_repeat

    Graphical View of Domain Structure for InterPro Entry Q9C0D0

    ProtoNet protein and cluster: Q9C0D0

    UniProtKB/Swiss-Prot: PHAR1_HUMAN, Q9C0D0
    Domain: Binds three actin monomers via the three C-terminal RPEL repeats (By similarity)
    Similarity: Belongs to the phosphatase and actin regulator family
    Similarity: Contains 4 RPEL repeats


    PHACTR1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHAR1_HUMAN, Q9C0D0
    Function: Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in
    formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by
    endothelial cells. Regulates PPP1CA activity. Required for normal cell survival
    Induction: Up-regulated by VEGFA

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0004864protein phosphatase inhibitor activity IEA--
         
    PHACTR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PHACTR1:
     High actin ratio cells 

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHACTR1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for PHACTR1 (Q9C0D02, 3 ENSP000003976694) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=2 STRING: ENSP00000355645
    PPP1CAP621363, ENSP000003260314I2D: score=2 STRING: ENSP00000326031
    GRB2P629933I2D: score=1 
    --P310162MINT-8109062
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031032actomyosin structure organization IMP--
    GO:0031532actin cytoskeleton reorganization ISS--
    GO:0043149stress fiber assembly IMP--
    GO:0048870cell motility IMP--

    PHACTR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PHACTR1 (PHAR1)

    Search CenterWatch for drugs/clinical trials and news about PHACTR1 / PHAR1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PHACTR1 gene (2 alternative transcripts): 
    NM_001242648.1  NM_030948.2  

    Unigene Cluster for PHACTR1:

    Phosphatase and actin regulator 1
    Hs.436996  [show with all ESTs]
    Unigene Representative Sequence: NM_030948
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379350(uc003nag.2) ENST00000379348(uc003nai.3) ENST00000406205
    ENST00000482982 ENST00000434977 ENST00000415087(uc003nah.2 uc010jpc.3)
    ENST00000489548 ENST00000379335 ENST00000379329 ENST00000481706 ENST00000332995
    ENST00000457702 ENST00000379345
    miRNA
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    Additional mRNA sequence: 

    AK090769.1 AK290017.1 AK295263.1 BC047159.1 BC101526.1 BC101528.1 

    11 DOTS entries:

    DT.92418000  DT.313401  DT.75199379  DT.100691753  DT.121367811  DT.121367839  DT.40188426  DT.95076613 
    DT.100698616  DT.408950  DT.95333051 

    24/74 AceView cDNA sequences (see all 74):

    BC067280 AA809685 AA364675 BQ434462 BF593405 BG150259 AI654726 BU729910 
    BQ224051 AW025250 AX746608 BQ879198 BM704008 AK090769 AI915842 N23473 
    AI937841 AW192343 CA309498 H98030 H83532 AI498529 AA663723 BC047159 

    GeneLoc Exon Structure


    (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

    PHACTR1 expression in normal human tissues (normalized intensities)      PHACTR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTGAGTAG
    PHACTR1 Expression
    About this image


    PHACTR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Globus Pallidus
             Substantia Nigra   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Melanocytes (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-dark (HEM-dark)   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-dark (HEM-dark)   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See PHACTR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHACTR1

    SOURCE GeneReport for Unigene cluster: Hs.436996

    UniProtKB/Swiss-Prot: PHAR1_HUMAN, Q9C0D0
    Tissue specificity: Detected in umbilical vein endothelial cells

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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 PHACTR1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phactr11 , 5 phosphatase and actin regulator 11, 5 87.59(n)1
    94.14(a)1
      13 (21.05 cM)5
    2181941  NM_198419.31  NP_940811.21 
     426806235 
    chicken
    (Gallus gallus)
    Aves PHACTR11 phosphatase and actin regulator 1 80.02(n)
    87.68(a)
      395093  NM_204446.1  NP_989777.1 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii BX870840.12   -- 77.77(n)    BX870840.1 


    ENSEMBL Gene Tree for PHACTR1 (if available)
    TreeFam Gene Tree for PHACTR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHACTR1 gene
    3 SIMAP similar genes for PHACTR1 using alignment to 10 protein entries:     PHAR1_HUMAN (see all proteins):
    PFKM    PHACTR2    PHACTR3

    PHACTR1 for paralogs           About GeneDecksing



    (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) 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

    10/11534 SNPs in PHACTR1 are shown (see all 11534)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693794
    ----see VAR_0693792 R C mis40--------
    rs1932585451,2
    --12715125(+) AATCTA/GTTACA 2 -- us2k10--------
    rs1479150971,2
    --12715344(+) CAAGCA/GATTCT 2 -- us2k10--------
    rs715532221,2
    C,F--12715521(+) CAGACA/GTGAGC 2 -- us2k13Minor allele frequency- G:0.24NA WA 240
    rs1416365181,2
    --12715524(+) ACATGA/GGCCTC 2 -- us2k10--------
    rs1150447141,2
    C--12715536(+) GTGCCC/TGGCCC 2 -- us2k10--------
    rs715624541,2
    C,F--12715537(+) TGCCCG/AGCCCC 2 -- us2k14Minor allele frequency- A:0.12NA WA 242
    rs168733011,2
    C,F,H--12715593(+) AATTAC/TGACCC 2 -- us2k123Minor allele frequency- T:0.16NA NS EA CSA WA 2849
    rs1512702191,2
    C--12715618(+) TTCAC-/TTTGTA 2 -- us2k10--------
    rs1835300101,2
    --12715665(+) AGAAAC/TGACTG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PHACTR1 (12717037 - 12967037 bp, first 250kb of PHACTR1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for PHACTR1 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666863CNV Deletion23128226
    esv2535563CNV Deletion19546169
    esv2731601CNV Deletion23290073
    esv4766CNV Deletion18987735
    esv2731603CNV Deletion23290073
    esv2731599CNV Deletion23290073
    esv2731602CNV Deletion23290073
    esv1092896CNV Deletion17803354
    esv1978352CNV Deletion18987734
    esv2731604CNV Deletion23290073


    Human Gene Mutation Database (HGMD): PHACTR1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608723    OMIM disorders: --

    4 diseases for PHACTR1:    About MalaCards
    migraine without aura    gigantism    migraine    myocardial infarction


    PHACTR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PHACTR1
    Human Genome Epidemiology (HuGE) Navigator: PHACTR1 (6 documents)

    Export disorders for PHACTR1 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 PHACTR1 gene, integrated from 9 sources (see all 30) (see top 10):
    (articles sorted by number of sources associating them with PHACTR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Neuropilin-1 regulates a new VEGF-induced gene, Phactr -1, which controls tubulogenesis and modulates lamellipodial dynamics in human e ndothelial cells. (PubMed id 21939755)1, 2 Allain B....Lepelletier Y. (2012)
    3. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (2011)
    4. Genome-wide association study for coronary artery calc ification with follow-up in myocardial infarction. (PubMed id 22144573)1, 4 O'Donnell C.J....Witteman J.C. (2011)
    5. Depletion of the novel protein PHACTR-1 from human en dothelial cells abolishes tube formation and induces cell death receptor apopto sis. (PubMed id 21798305)1, 2 Jarray R....Raynaud F. (2011)
    6. A genome-wide association study in Europeans and Sout h Asians identifies five new loci for coronary artery disease. (PubMed id 21378988)1, 4 (2011)
    7. A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease. (PubMed id 21846871)1, 4 Mehta N.N. (2011)
    8. A multilocus genetic risk score for coronary heart di sease: case-control and prospective cohort analyses. (PubMed id 20971364)1, 4 Ripatti S....Kathiresan S. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Additive effect of multiple genetic variants on the r isk of coronary artery disease. (PubMed id 20738937)1, 4 LluA-s-Ganella C....Elosua R. (2010)
    11. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (PubMed id 19198609)1, 4  ....Altshuler D. (2009)
    12. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)1, 4 Kiel D.P....Karasik D. (2007)
    13. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. (PubMed id 15107502)1, 3 Allen P.B....Greengard P. (2004)
    14. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    15. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    16. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    17. MicroRNA-584 and the protein phosphatase and actin reg ulator 1 (PHACTR1), a new signaling route through which transforming growth fact or-b Mediates the migration and actin dynamics of breast cancer cells. (PubMed id 23479725)1 Fils-Aime N....Lebrun J.J. (2013)
    18. Genome-wide association study in a Lebanese cohort con firms PHACTR1 as a major determinant of coronary artery stenosis. (PubMed id 22745674)1 Hager J....Zalloua P.A. (2012)
    19. Genetic heritability of ischemic stroke and the contri bution of previously reported candidate gene and genomewide associations. (PubMed id 23042660)1 Bevan S....Markus H.S. (2012)
    20. Genome-wide linkage and association scans for pulse pressure in Chinese twins. (PubMed id 22763476)1 Zhang D....Tan Q. (2012)
    21. Genome-wide association study in Han Chinese identifie s four new susceptibility loci for coronary artery disease. (PubMed id 22751097)1 Lu X....Gu D. (2012)
    22. Genome-wide association analysis identifies susceptibi lity loci for migraine without aura. (PubMed id 22683712)1 Freilinger T....van den Maagdenberg A.M. (2012)
    23. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (2012)
    24. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)

    (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)
    About This Section
    Entrez Gene: 221692 HGNC: 20990 AceView: PHACTR1 Ensembl:ENSG00000112137 euGenes: HUgn221692
    ECgene: PHACTR1 H-InvDB: PHACTR1

    (According to HUGE)
    About This Section
    HUGE: KIAA1733

    (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 PHACTR1 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 PHACTR1 gene:
    Search GeneIP for patents involving PHACTR1

    GeneCards and IP:
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