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Aliases for PHACTR2 Gene

Aliases for PHACTR2 Gene

  • Phosphatase And Actin Regulator 2 2 3 5
  • C6orf56 3 4
  • Chromosome 6 Open Reading Frame 56 2
  • KIAA0680 4

External Ids for PHACTR2 Gene

Previous HGNC Symbols for PHACTR2 Gene

  • C6orf56

Previous GeneCards Identifiers for PHACTR2 Gene

  • GC06P143979
  • GC06P143971
  • GC06P143858
  • GC06P141493

Summaries for PHACTR2 Gene

GeneCards Summary for PHACTR2 Gene

PHACTR2 (Phosphatase And Actin Regulator 2) is a Protein Coding gene. Among its related pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include actin binding and protein phosphatase inhibitor activity. An important paralog of this gene is PHACTR4.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHACTR2 Gene

Genomics for PHACTR2 Gene

Regulatory Elements for PHACTR2 Gene

Enhancers for PHACTR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PHACTR2 on UCSC Golden Path with GeneCards custom track

Promoters for PHACTR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHACTR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHACTR2 Gene

Chromosome:
6
Start:
143,536,845 bp from pter
End:
143,831,185 bp from pter
Size:
294,341 bases
Orientation:
Plus strand

Genomic View for PHACTR2 Gene

Genes around PHACTR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHACTR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHACTR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHACTR2 Gene

Proteins for PHACTR2 Gene

  • Protein details for PHACTR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75167-PHAR2_HUMAN
    Recommended name:
    Phosphatase and actin regulator 2
    Protein Accession:
    O75167
    Secondary Accessions:
    • A6NKP5
    • A7MCZ5
    • A8MZC0
    • B2RWP7
    • B4DN76
    • B4DPB5
    • B4DTH7
    • Q5TFA0
    • Q68DM2

    Protein attributes for PHACTR2 Gene

    Size:
    634 amino acids
    Molecular mass:
    69700 Da
    Quaternary structure:
    • Binds PPP1CA and actin.
    SequenceCaution:
    • Sequence=BAA31655.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG60527.1; Type=Erroneous termination; Positions=46; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=CAI14133.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19814.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21446.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PHACTR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHACTR2 Gene

Proteomics data for PHACTR2 Gene at MOPED

Post-translational modifications for PHACTR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHACTR2 Gene

Domains & Families for PHACTR2 Gene

Gene Families for PHACTR2 Gene

Protein Domains for PHACTR2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75167

UniProtKB/Swiss-Prot:

PHAR2_HUMAN :
  • Belongs to the phosphatase and actin regulator family.
  • Contains 4 RPEL repeats.
Family:
  • Belongs to the phosphatase and actin regulator family.
Similarity:
  • Contains 4 RPEL repeats.
genes like me logo Genes that share domains with PHACTR2: view

Function for PHACTR2 Gene

Gene Ontology (GO) - Molecular Function for PHACTR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with PHACTR2: view
genes like me logo Genes that share phenotypes with PHACTR2: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHACTR2 Gene

Localization for PHACTR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHACTR2 Gene

Isoform 2: Membrane; Lipid-anchor.
Isoform 4: Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHACTR2 Gene COMPARTMENTS Subcellular localization image for PHACTR2 gene
Compartment Confidence
nucleus 4
cytosol 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for PHACTR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHACTR2: view

Pathways & Interactions for PHACTR2 Gene

genes like me logo Genes that share pathways with PHACTR2: view

Gene Ontology (GO) - Biological Process for PHACTR2 Gene

None

No data available for SIGNOR curated interactions for PHACTR2 Gene

Drugs & Compounds for PHACTR2 Gene

No Compound Related Data Available

Transcripts for PHACTR2 Gene

Unigene Clusters for PHACTR2 Gene

Phosphatase and actin regulator 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHACTR2 Gene

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

Relevant External Links for PHACTR2 Gene

GeneLoc Exon Structure for
PHACTR2
ECgene alternative splicing isoforms for
PHACTR2

Expression for PHACTR2 Gene

mRNA expression in normal human tissues for PHACTR2 Gene

Protein differential expression in normal tissues from HIPED for PHACTR2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.7), Heart (11.7), and NK cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHACTR2 Gene



SOURCE GeneReport for Unigene cluster for PHACTR2 Gene Hs.102471

genes like me logo Genes that share expression patterns with PHACTR2: view

Protein tissue co-expression partners for PHACTR2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PHACTR2 Gene

Orthologs for PHACTR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHACTR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PHACTR2 35
  • 90.15 (n)
  • 89.94 (a)
PHACTR2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHACTR2 35
  • 89.39 (n)
  • 89.13 (a)
PHACTR2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phactr2 35
  • 83.98 (n)
  • 82.81 (a)
Phactr2 16
Phactr2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PHACTR2 35
  • 99.17 (n)
  • 98.14 (a)
PHACTR2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phactr2 35
  • 82.57 (n)
  • 80.85 (a)
oppossum
(Monodelphis domestica)
Mammalia PHACTR2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHACTR2 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHACTR2 35
  • 68.21 (n)
  • 64.26 (a)
PHACTR2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHACTR2 36
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii phactr2 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32264 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26H9.2 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1850 36
  • 21 (a)
ManyToMany
CSA.9409 36
  • 52 (a)
ManyToMany
Species with no ortholog for PHACTR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PHACTR2 Gene

ENSEMBL:
Gene Tree for PHACTR2 (if available)
TreeFam:
Gene Tree for PHACTR2 (if available)

Paralogs for PHACTR2 Gene

Paralogs for PHACTR2 Gene

(2) SIMAP similar genes for PHACTR2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PHACTR2 Gene

genes like me logo Genes that share paralogs with PHACTR2: view

Variants for PHACTR2 Gene

Sequence variations from dbSNP and Humsavar for PHACTR2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2073214 - 143,760,472(+) CTAGA(A/C/T)CCAAA intron-variant, reference, missense
rs2295201 - 143,772,403(+) GGCCT(A/G)TCTTG reference, missense
rs1012753 -- 143,783,332(+) CTTTT(A/T)AAAAA intron-variant
rs1014900 -- 143,706,446(+) AAACA(C/T)GGGTT intron-variant
rs1015339 -- 143,713,711(+) TGGTC(C/T)CCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHACTR2 Gene

Variant ID Type Subtype PubMed ID
dgv2015e1 CNV Complex 17122850
nsv5512 CNV Insertion 18451855
esv268521 CNV Insertion 20981092
esv273892 CNV Insertion 20981092
nsv517253 CNV Gain+Loss 19592680
nsv7973 CNV Gain 18304495
esv2732821 CNV Deletion 23290073
esv33992 CNV Loss 17666407
esv33301 CNV Gain 17666407
esv2355696 CNV Deletion 18987734
nsv886737 CNV Loss 21882294
esv2676201 CNV Deletion 23128226
esv2249743 CNV Deletion 18987734
esv2732822 CNV Deletion 23290073
nsv5513 CNV Loss 18451855
nsv7974 CNV Loss 18304495
nsv510055 CNV Loss 20534489
nsv5514 CNV Insertion 18451855

Variation tolerance for PHACTR2 Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 81.00% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PHACTR2 Gene

Disorders for PHACTR2 Gene

Relevant External Links for PHACTR2

Genetic Association Database (GAD)
PHACTR2
Human Genome Epidemiology (HuGE) Navigator
PHACTR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHACTR2

No disorders were found for PHACTR2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHACTR2 Gene

Publications for PHACTR2 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. (PMID: 15107502) Allen P.B. … Greengard P. (Proc. Natl. Acad. Sci. U.S.A. 2004) 2 3
  3. Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population. (PMID: 25399010) Lou G. … Deng D. (Acta Biochim. Pol. 2014) 3
  4. Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. (PMID: 23108145) Wang L.E. … Wei Q. (Cancer Res. 2013) 3
  5. CBFI^ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. (PMID: 23333304) Kim D.Y. … Gross J.D. (Mol. Cell 2013) 3

Products for PHACTR2 Gene

Sources for PHACTR2 Gene

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