The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to ... See more...

Aliases for PPP4R4 Gene

Aliases for PPP4R4 Gene

  • Protein Phosphatase 4 Regulatory Subunit 4 2 3 5
  • KIAA1622 2 3 4
  • PP4R4 2 3 4
  • Serine/Threonine-Protein Phosphatase 4 Regulatory Subunit 4 3 4
  • Cilia And Flagella Associated Protein 14 2 3
  • CFAP14 2 3
  • HEAT-Like Repeat-Containing Protein 3
  • PPP4R4 5

External Ids for PPP4R4 Gene

Previous HGNC Symbols for PPP4R4 Gene

  • KIAA1622

Previous GeneCards Identifiers for PPP4R4 Gene

  • GC14P093711
  • GC14P094640
  • GC14P074820

Summaries for PPP4R4 Gene

Entrez Gene Summary for PPP4R4 Gene

  • The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]

GeneCards Summary for PPP4R4 Gene

PPP4R4 (Protein Phosphatase 4 Regulatory Subunit 4) is a Protein Coding gene. Diseases associated with PPP4R4 include Spondylocarpotarsal Synostosis Syndrome and D-Bifunctional Protein Deficiency. Gene Ontology (GO) annotations related to this gene include binding and protein phosphatase regulator activity.

UniProtKB/Swiss-Prot Summary for PPP4R4 Gene

  • Putative regulatory subunit of serine/threonine-protein phosphatase 4.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP4R4 Gene

Genomics for PPP4R4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP4R4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J094173 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 268.9 +28.6 28573 3 ZBTB10 FEZF1 ZIC2 SIN3A VEZF1 SAP130 ZNF341 KLF9 ZNF146 BCL11B PPP4R4 HSALNG0103356 IFI27L2 DDX24 IFI27L1 LOC105370634 SERPINA10
GH14J094144 Enhancer 0.9 Ensembl ENCODE 250.7 -0.5 -540 2 FEZF1 CEBPA ZIC2 MAFF GABPA GABPB1 ZNF316 MAFK EHMT2 MAFG PPP4R4 IFI27L2 IFI27L1 HSALNG0103354 LOC105370634
GH14J094077 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.9 -65.9 -65928 5.2 TBP ZBTB10 SP1 NR2C1 MNT IKZF1 SMAD5 MBD2 POLR2A BHLHE40 DDX24 IFI27L1 NONHSAG015770.2 piR-35837 BTBD7 IFI27 PPP4R4 OTUB2
GH14J093205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 -939.2 -939227 4.2 ZSCAN16 TBP ZBTB10 MXD4 SP1 NR2C1 MNT IKZF1 SMAD5 ETS1 GON7 HSALNG0103303 UBR7 MOAP1 TMEM251 UNC79 PPP4R4 RF00017-1662 ENSG00000259066 HSALNG0103299
GH14J094109 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.4 -33.6 -33560 6.3 TBP IKZF1 IRF2 ZIC2 RFX5 RELA NFE2 IRF9 ZBTB48 NRF1 KY994058 NONHSAG015771.2 IFI27 IFI27L1 PPP4R4 DDX24 IFI27L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP4R4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP4R4

Top Transcription factor binding sites by QIAGEN in the PPP4R4 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • LUN-1
  • NF-Y
  • NF-YA
  • NF-YB
  • Pax-4a
  • SRY

Genomic Locations for PPP4R4 Gene

Latest Assembly
chr14:94,146,128-94,279,734
(GRCh38/hg38)
Size:
133,607 bases
Orientation:
Plus strand

Previous Assembly
chr14:94,640,659-94,746,071
(GRCh37/hg19 by Entrez Gene)
Size:
105,413 bases
Orientation:
Plus strand

chr14:94,612,465-94,746,072
(GRCh37/hg19 by Ensembl)
Size:
133,608 bases
Orientation:
Plus strand

Genomic View for PPP4R4 Gene

Genes around PPP4R4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP4R4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP4R4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP4R4 Gene

Proteins for PPP4R4 Gene

  • Protein details for PPP4R4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUP7-PP4R4_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 4 regulatory subunit 4
    Protein Accession:
    Q6NUP7
    Secondary Accessions:
    • Q9BUF8
    • Q9HCF0

    Protein attributes for PPP4R4 Gene

    Size:
    873 amino acids
    Molecular mass:
    99452 Da
    Quaternary structure:
    • Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complex PPP4C-PPP4R4.
    SequenceCaution:
    • Sequence=BAB13448.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP4R4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP4R4 Gene

Post-translational modifications for PPP4R4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPP4R4 Gene

Domains & Families for PPP4R4 Gene

Protein Domains for PPP4R4 Gene

Suggested Antigen Peptide Sequences for PPP4R4 Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein phosphatase 4 regulatory subunit 4 (PP4R4_HUMAN)
genes like me logo Genes that share domains with PPP4R4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPP4R4 Gene

Function for PPP4R4 Gene

Molecular function for PPP4R4 Gene

UniProtKB/Swiss-Prot Function:
Putative regulatory subunit of serine/threonine-protein phosphatase 4.

Phenotypes From GWAS Catalog for PPP4R4 Gene

Gene Ontology (GO) - Molecular Function for PPP4R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18715871
GO:0019888 protein phosphatase regulator activity IDA 18715871
genes like me logo Genes that share ontologies with PPP4R4: view
genes like me logo Genes that share phenotypes with PPP4R4: view

miRNA for PPP4R4 Gene

miRTarBase miRNAs that target PPP4R4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP4R4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP4R4 Gene

Localization for PPP4R4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP4R4 Gene

Cytoplasm.

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 PPP4R4 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP4R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18715871
GO:0005829 cytosol IBA,IDA --
GO:0008287 protein serine/threonine phosphatase complex IDA 18715871
genes like me logo Genes that share ontologies with PPP4R4: view

Pathways & Interactions for PPP4R4 Gene

PathCards logo

SuperPathways for PPP4R4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPP4R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001835 blastocyst hatching IEA --
GO:0032515 negative regulation of phosphoprotein phosphatase activity IDA 18715871
GO:0080163 regulation of protein serine/threonine phosphatase activity IBA,IDA 18715871
genes like me logo Genes that share ontologies with PPP4R4: view

No data available for Pathways by source and SIGNOR curated interactions for PPP4R4 Gene

Drugs & Compounds for PPP4R4 Gene

No Compound Related Data Available

Transcripts for PPP4R4 Gene

mRNA/cDNA for PPP4R4 Gene

6 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP4R4

Alternative Splicing Database (ASD) splice patterns (SP) for PPP4R4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - - -
SP2: -
SP3: - -

ExUns: 26 ^ 27 ^ 28
SP1:
SP2:
SP3:

Relevant External Links for PPP4R4 Gene

GeneLoc Exon Structure for
PPP4R4

Expression for PPP4R4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP4R4 Gene

mRNA differential expression in normal tissues according to GTEx for PPP4R4 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.7), Brain - Nucleus accumbens (basal ganglia) (x4.8), Brain - Cortex (x4.4), Brain - Amygdala (x4.2), Brain - Frontal Cortex (BA9) (x4.2), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for PPP4R4 Gene

This gene is overexpressed in Fetal ovary (34.8), Plasma (11.4), and NK cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPP4R4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP4R4

SOURCE GeneReport for Unigene cluster for PPP4R4 Gene:

Hs.259599

Evidence on tissue expression from TISSUES for PPP4R4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PPP4R4: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP4R4 Gene

Orthologs for PPP4R4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP4R4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP4R4 30 31
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP4R4 30 31
  • 93.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP4R4 30 31
  • 93.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp4r4 30 17 31
  • 88.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp4r4 30
  • 88.72 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPP4R4 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP4R4 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPP4R4 30 31
  • 78.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP4R4 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp4r4 30
  • 73.6 (n)
Zebrafish
(Danio rerio)
Actinopterygii ppp4r4 30 31
  • 62.26 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F46C5.6 30 31
  • 43.55 (n)
OneToOne
Species where no ortholog for PPP4R4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for PPP4R4 Gene

ENSEMBL:
Gene Tree for PPP4R4 (if available)
TreeFam:
Gene Tree for PPP4R4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP4R4: view image

Paralogs for PPP4R4 Gene

No data available for Paralogs for PPP4R4 Gene

Variants for PPP4R4 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP4R4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPP4R4 Gene

Variant ID Type Subtype PubMed ID
dgv1958n100 CNV loss 25217958
dgv1959n100 CNV loss 25217958
dgv1960n100 CNV loss 25217958
dgv1961n100 CNV loss 25217958
dgv1962n100 CNV loss 25217958
esv3635377 CNV gain 21293372
esv3635378 CNV loss 21293372
esv3892578 CNV loss 25118596
esv8117 OTHER inversion 19470904
nsv1038407 CNV loss 25217958
nsv1050905 CNV loss 25217958
nsv1118286 CNV deletion 24896259
nsv1121878 CNV deletion 24896259
nsv470659 CNV gain 18288195
nsv528649 CNV loss 19592680
nsv832862 CNV gain 17160897
nsv952234 CNV deletion 24416366

Variation tolerance for PPP4R4 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP4R4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP4R4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP4R4 Gene

Disorders for PPP4R4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP4R4 Gene - From: COP

Disorder Aliases PubMed IDs
spondylocarpotarsal synostosis syndrome
  • sct
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
perrault syndrome
  • gonadal dysgenesis, xx type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP4R4

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPP4R4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP4R4 Gene

Publications for PPP4R4 Gene

  1. PP4R4/KIAA1622 forms a novel stable cytosolic complex with phosphoprotein phosphatase 4. (PMID: 18715871) Chen GI … Gingras AC (The Journal of biological chemistry 2008) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  3. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  4. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PPP4R4 Gene

Sources for PPP4R4 Gene