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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 Response to elevated platelet cytosolic Ca2+. 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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G143741 1.7 Ensembl ENCODE dbSUPER 14.9 +208.9 208905 9.5 MLX CREB3L1 AGO1 FEZF1 DMAP1 SP3 NFYC TBX21 SSRP1 ZNF610 VDAC1P8 LTV1 ENSG00000270890 PHACTR2 PHACTR2-AS1 TUBB8P2 ZC2HC1B GC06P143748 GC06P143711
GH06G144263 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +728.1 728138 3.8 FOXA2 ZFP64 SIN3A FEZF1 ZNF2 GLIS2 KLF7 FOS MXD4 REST STX11 ENSG00000225311 PHACTR2 PLAGL1 SF3B5 ENSG00000216475 UTRN
GH06G143566 1.4 FANTOM5 Ensembl ENCODE 11.6 +30.3 30293 0.7 TBP TBL1XR1 BMI1 CHAMP1 CBX5 RELB ETV6 IKZF2 CREM CBFB PHACTR2 FUCA2 LTV1 ZC2HC1B PHACTR2-AS1
GH06G143895 1.4 ENCODE dbSUPER 10.1 +359.3 359271 1.3 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 SLC30A9 LTV1 TUBB8P2 ZC2HC1B PHACTR2 GC06P143999
GH06G143960 1.4 Ensembl ENCODE 9.9 +430.7 430674 13.1 FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 PLAGL1 PHACTR2-AS1 LTV1 PHACTR2 ZC2HC1B GC06P143999
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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.
Family:
  • Belongs to the phosphatase and actin regulator family.
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 --
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0005515 protein binding IPI 17474147
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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHACTR2 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for PHACTR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031092 platelet alpha granule membrane TAS --
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

Interacting Proteins for PHACTR2 Gene

Gene Ontology (GO) - Biological Process for PHACTR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0043086 negative regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PHACTR2: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PHACTR2 Gene



Protein tissue co-expression partners for PHACTR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHACTR2 Gene:

PHACTR2

SOURCE GeneReport for Unigene cluster for PHACTR2 Gene:

Hs.102471

Evidence on tissue expression from TISSUES for PHACTR2 Gene

  • Kidney(4.2)
  • Liver(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PHACTR2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PHACTR2 34 35
  • 99.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHACTR2 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PHACTR2 34 35
  • 90.15 (n)
dog
(Canis familiaris)
Mammalia PHACTR2 34 35
  • 89.39 (n)
mouse
(Mus musculus)
Mammalia Phactr2 34 16 35
  • 83.98 (n)
rat
(Rattus norvegicus)
Mammalia Phactr2 34
  • 82.57 (n)
oppossum
(Monodelphis domestica)
Mammalia PHACTR2 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHACTR2 34 35
  • 68.21 (n)
lizard
(Anolis carolinensis)
Reptilia PHACTR2 35
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii phactr2 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32264 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26H9.2 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9409 35
  • 52 (a)
ManyToMany
CSA.1850 35
  • 21 (a)
ManyToMany
Species where no ortholog for PHACTR2 was found in the sources mined by GeneCards:
  • 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
rs1000024477 -- 143,731,840(+) GCATT(A/G)TGGAC intron-variant
rs1000050741 -- 143,704,178(+) TGTGG(A/T)TGTAT intron-variant
rs1000093766 -- 143,662,249(+) ACTTG(A/G)AGGCA intron-variant
rs1000095020 -- 143,743,263(+) AAATG(A/G)CAAGA intron-variant
rs1000104376 -- 143,660,226(+) CATAC(C/T)CAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2249743 CNV deletion 18987734
esv2355696 CNV deletion 18987734
esv2676201 CNV deletion 23128226
esv2732821 CNV deletion 23290073
esv2732822 CNV deletion 23290073
esv2759476 CNV loss 17122850
esv3304242 CNV mobile element insertion 20981092
esv3309620 CNV mobile element insertion 20981092
esv3354169 CNV insertion 20981092
esv33992 CNV loss 17666407
esv3447195 CNV insertion 20981092
nsv1032369 CNV gain 25217958
nsv1034894 CNV gain 25217958
nsv1140710 CNV deletion 24896259
nsv1143163 CNV tandem duplication 24896259
nsv510055 OTHER sequence alteration 20534489
nsv517253 CNV gain+loss 19592680
nsv5512 CNV insertion 18451855
nsv5513 CNV deletion 18451855
nsv5514 CNV insertion 18451855
nsv604805 CNV gain 21841781
nsv7973 CNV gain 18304495
nsv7974 CNV loss 18304495

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)

Relevant External Links for PHACTR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHACTR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings. (PMID: 20546594) Goldstein B.A. … Barcellos L.F. (BMC Genet. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Phactr2 and Parkinson's disease. (PMID: 19429005) Wider C. … Ross O.A. (Neurosci. Lett. 2009) 3 46 64

Products for PHACTR2 Gene

Sources for PHACTR2 Gene

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