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    PHACTR2 phosphatase and actin regulator 2 [ Homo sapiens (human) ]

    Gene ID: 9749, updated on 17-Jun-2019

    Summary

    Official Symbol
    PHACTR2provided by HGNC
    Official Full Name
    phosphatase and actin regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:20956
    See related
    Ensembl:ENSG00000112419 MIM:608724
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C6orf56
    Expression
    Broad expression in placenta (RPKM 29.1), adrenal (RPKM 11.9) and 22 other tissues See more
    Orthologs

    Genomic context

    See PHACTR2 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (143608180..143831185)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143929317..144152322)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378035 Neighboring gene PHACTR2 antisense RNA 1 Neighboring gene LTV1 ribosome biogenesis factor Neighboring gene zinc finger C2HC-type containing 1B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of phosphatase and actin regulator 2 (PHACTR2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0680, MGC176642, DKFZp686F18175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    negative regulation of phosphoprotein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet alpha granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phosphatase and actin regulator 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100164.2NP_001093634.1  phosphatase and actin regulator 2 isoform 1

      See identical proteins and their annotated locations for NP_001093634.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB014580, AL049844, CN361694, DC361499, DR980875
      Consensus CDS
      CCDS47493.1
      UniProtKB/Swiss-Prot
      O75167
      Related
      ENSP00000417038.2, ENST00000440869.6
      Conserved Domains (2) summary
      smart00707
      Location:527551
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:7294
      RPEL; RPEL repeat
    2. NM_001100165.2NP_001093635.1  phosphatase and actin regulator 2 isoform 2

      See identical proteins and their annotated locations for NP_001093635.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB014580, AL049844, DC361499, DR004592, DR980875
      Consensus CDS
      CCDS47494.1
      UniProtKB/Swiss-Prot
      O75167
      Related
      ENSP00000356554.3, ENST00000367582.7
      Conserved Domains (2) summary
      smart00707
      Location:447471
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:7294
      RPEL; RPEL repeat
    3. NM_001100166.2NP_001093636.1  phosphatase and actin regulator 2 isoform 4

      See identical proteins and their annotated locations for NP_001093636.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, has multiple differences in the presence and absence of exons at its 5' end, and lacks an alternate in-frame exon in the mid-coding region, compared to variant 1. The resulting protein (isoform 4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB014580, AL049844, DC381966, DN993504, DR980875
      Consensus CDS
      CCDS43512.1
      UniProtKB/Swiss-Prot
      O75167
      Related
      ENSP00000305530.6, ENST00000305766.10
      Conserved Domains (2) summary
      smart00707
      Location:436460
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:6183
      RPEL; RPEL repeat
    4. NM_014721.3NP_055536.2  phosphatase and actin regulator 2 isoform 3

      See identical proteins and their annotated locations for NP_055536.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. The resulting protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB014580, AL049844, CN361694, DC381966, DR980875
      Consensus CDS
      CCDS47492.1
      UniProtKB/Swiss-Prot
      O75167
      Related
      ENSP00000391763.2, ENST00000427704.6
      Conserved Domains (2) summary
      smart00707
      Location:516540
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:6183
      RPEL; RPEL repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      143608180..143831185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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