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

    Gene ID: 9749, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:20956
    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
    Summary
    Predicted to enable actin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson's disease and multiple sclerosis. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in placenta (RPKM 29.1), adrenal (RPKM 11.9) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHACTR2 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (143536878..143831185)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (144729279..145023866)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143858015..144152322)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901417 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:143832090-143832293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143832494-143833156 Neighboring gene uncharacterized LOC105378035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143833157-143833817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17629 Neighboring gene alpha-L-fucosidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25203 Neighboring gene PHACTR2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17630 Neighboring gene MPRA-validated peak6177 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:143958702-143959245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:143998446-143999294 Neighboring gene MPRA-validated peak6179 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:144059920-144060420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144065167-144065836 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:144067178-144067848 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144067849-144068518 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144068519-144069188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25206 Neighboring gene MPRA-validated peak6180 silencer Neighboring gene MPRA-validated peak6181 silencer Neighboring gene LTV1 ribosome biogenesis factor Neighboring gene zinc finger C2HC-type containing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25207

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0680, MGC176642, DKFZp686F18175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in platelet alpha granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phosphatase and actin regulator 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, ENST00000440869.7
      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_001394736.1NP_001381665.1  phosphatase and actin regulator 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL049844, AL078593, AL357117
      Consensus CDS
      CCDS94015.1
      UniProtKB/TrEMBL
      J3KP75
      Related
      ENSP00000356556.4, ENST00000367584.8
      Conserved Domains (1) summary
      smart00707
      Location:504528
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    5. NM_001394738.1NP_001381667.1  phosphatase and actin regulator 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL049844, AL078593, AL357117
      Conserved Domains (2) summary
      smart00707
      Location:383407
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      cl29414
      Location:344369
      RPEL; RPEL repeat
    6. 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
      A6NKP5, A7MCZ5, A8MZC0, B2RWP7, B4DN76, B4DPB5, B4DTH7, O75167, Q5TFA0, Q68DM2
      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

    RNA

    1. NR_172204.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL049844, AL078593, AL357117
    2. NR_172205.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL049844, AL078593, AL360228

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      143536878..143831185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      144729279..145023866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)