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Aliases for PUM2 Gene

Aliases for PUM2 Gene

  • Pumilio RNA Binding Family Member 2 2 3 5
  • Pumilio-2 3 4
  • PUMH2 3 4
  • Pumilio Homolog 2 (Drosophila) 2
  • Pumilio Homolog 2 3
  • KIAA0235 4
  • PUML2 3

External Ids for PUM2 Gene

Previous GeneCards Identifiers for PUM2 Gene

  • GC02M020339
  • GC02M020516
  • GC02M020416
  • GC02M020432
  • GC02M020370
  • GC02M020311
  • GC02M020448
  • GC02M020205

Summaries for PUM2 Gene

Entrez Gene Summary for PUM2 Gene

  • This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for PUM2 Gene

PUM2 (Pumilio RNA Binding Family Member 2) is a Protein Coding gene. Among its related pathways are Translational Control. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is PUM1.

UniProtKB/Swiss-Prot for PUM2 Gene

  • Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5-UGUANAUA-3, that is related to the Nanos Response Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:22345517). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3-UTR and facilitating miRNA regulation (PubMed:22345517). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). May regulate DCUN1D3 mRNA levels (PubMed:25349211). May support proliferation and self-renewal of stem cells. Binds specifically to miRNA MIR199A precursor, with PUM1, regulates miRNA MIR199A expression at a postranscriptional level (PubMed:28431233).

Gene Wiki entry for PUM2 Gene

Additional gene information for PUM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUM2 Gene

Genomics for PUM2 Gene

GeneHancer (GH) Regulatory Elements for PUM2 Gene

Promoters and enhancers for PUM2 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
GH02I020348 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 562 +1.4 1351 4.8 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 PUM2 LINC00954 SDC1 ENSG00000233005 ENSG00000269976 GC02P020325
GH02I020353 Enhancer 0.9 ENCODE dbSUPER 550.8 -1.5 -1472 0.7 PKNOX1 FOXA2 NFIB SIN3A ZBTB40 E2F1 GATA3 LCORL POLR2A CBFA2T2 PUM2 GC02P020358
GH02I020329 Promoter 0.8 EPDnew 550.3 +24.9 24881 0.1 SMARCE1 SCRT1 SCRT2 FOS GC02P020325 PUM2 SDC1
GH02I020166 Enhancer 1.3 Ensembl ENCODE dbSUPER 75.7 +185.6 185602 2 HDGF ARNT ZNF493 ZNF133 YBX1 TCF12 ZNF548 FOS RUNX3 ZNF202 PUM2 TTC32 MATN3 WDR35 LINC00954 LINC01376 SDC1 LAPTM4A GC02M020159 GC02P020178
GH02I020566 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 22.6 -221.9 -221873 14.5 PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 PUM2 TTC32 RHOB GDF7 ENSG00000228950 WDR35 RNU6-961P HS1BP3-IT1 HS1BP3 ENSG00000269976
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PUM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PUM2 gene promoter:

Genomic Locations for PUM2 Gene

Genomic Locations for PUM2 Gene
chr2:20,248,691-20,352,234
(GRCh38/hg38)
Size:
103,544 bases
Orientation:
Minus strand
chr2:20,448,452-20,551,995
(GRCh37/hg19)

Genomic View for PUM2 Gene

Genes around PUM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUM2 Gene

Proteins for PUM2 Gene

  • Protein details for PUM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB72-PUM2_HUMAN
    Recommended name:
    Pumilio homolog 2
    Protein Accession:
    Q8TB72
    Secondary Accessions:
    • B3KSL0
    • B4E2B6
    • D6W527
    • O00234
    • Q53TV7
    • Q8WY43
    • Q9HAN2

    Protein attributes for PUM2 Gene

    Size:
    1066 amino acids
    Molecular mass:
    114216 Da
    Quaternary structure:
    • Homodimer; homodimerizes in vitro. Interacts with DAZ, DAZL and NANOS1 via its pumilio repeats. Interacts with NANOS3 (By similarity). Interacts with SNAPIN. Recruits the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Interacts with DDX20. In case of viral infection, interacts with DHX58 (PubMed:25340845). Interacts with TRIM71 (via NHL repeats) in an RNA-dependent manner (PubMed:23125361).

    Three dimensional structures from OCA and Proteopedia for PUM2 Gene

    Alternative splice isoforms for PUM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PUM2 Gene

Post-translational modifications for PUM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PUM2 Gene

Domains & Families for PUM2 Gene

Gene Families for PUM2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PUM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TB72

UniProtKB/Swiss-Prot:

PUM2_HUMAN :
  • The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half donut. RNA-binding occurs on the concave side of the surface (PubMed:21397187). PUM2 is composed of 8 pumilio repeats of 36 residues; each repeat binds a single nucleotide in its RNA target. Residues at positions 12 and 16 of the pumilio repeat bind each RNA base via hydrogen bonding or van der Waals contacts with the Watson-Crick edge, while the amino acid at position 13 makes a stacking interaction. The recognition of RNA by pumilio repeats is base specific: cysteine and glutamine at position 12 and 16, respectively, bind adenine; asparagine and glutamine bind uracil; and serine and glutamate bind guanine.
Domain:
  • The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half donut. RNA-binding occurs on the concave side of the surface (PubMed:21397187). PUM2 is composed of 8 pumilio repeats of 36 residues; each repeat binds a single nucleotide in its RNA target. Residues at positions 12 and 16 of the pumilio repeat bind each RNA base via hydrogen bonding or van der Waals contacts with the Watson-Crick edge, while the amino acid at position 13 makes a stacking interaction. The recognition of RNA by pumilio repeats is base specific: cysteine and glutamine at position 12 and 16, respectively, bind adenine; asparagine and glutamine bind uracil; and serine and glutamate bind guanine.
genes like me logo Genes that share domains with PUM2: view

Function for PUM2 Gene

Molecular function for PUM2 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5-UGUANAUA-3, that is related to the Nanos Response Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:22345517). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3-UTR and facilitating miRNA regulation (PubMed:22345517). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). May regulate DCUN1D3 mRNA levels (PubMed:25349211). May support proliferation and self-renewal of stem cells. Binds specifically to miRNA MIR199A precursor, with PUM1, regulates miRNA MIR199A expression at a postranscriptional level (PubMed:28431233).
UniProtKB/Swiss-Prot Induction:
Down-regulated in keratinocytes upon UVB irradiation.

Gene Ontology (GO) - Molecular Function for PUM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 26724866
GO:0003730 mRNA 3-UTR binding IDA 18776931
GO:0005515 protein binding IPI 12511597
GO:0035198 miRNA binding IDA 28431233
genes like me logo Genes that share ontologies with PUM2: view
genes like me logo Genes that share phenotypes with PUM2: view

Animal Model Products

Clone Products

  • Addgene plasmids for PUM2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PUM2 Gene

Localization for PUM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUM2 Gene

Cytoplasm. Cytoplasmic granule. Cytoplasm, perinuclear region. Note=The cytoplasmic granules are stress granules which are a dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. Colocalizes with NANOS3 in the stress granules. Colocalizes with NANOS1 and SNAPIN in the perinuclear region of germ cells. {ECO:0000269 PubMed:25340845}.

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 PUM2 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PUM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0010494 cytoplasmic stress granule ISS --
GO:0031965 nuclear membrane IDA --
GO:0048471 perinuclear region of cytoplasm IDA,IEA 19168546
genes like me logo Genes that share ontologies with PUM2: view

Pathways & Interactions for PUM2 Gene

SuperPathway Contained pathways
1 Translational Control
genes like me logo Genes that share pathways with PUM2: view

Pathways by source for PUM2 Gene

1 Cell Signaling Technology pathway for PUM2 Gene

Gene Ontology (GO) - Biological Process for PUM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0010608 posttranscriptional regulation of gene expression IDA,IMP 28431233
GO:0034063 stress granule assembly IEA --
GO:0035196 production of miRNAs involved in gene silencing by miRNA IMP 28431233
GO:0043488 regulation of mRNA stability IDA 26724866
genes like me logo Genes that share ontologies with PUM2: view

No data available for SIGNOR curated interactions for PUM2 Gene

Drugs & Compounds for PUM2 Gene

No Compound Related Data Available

Transcripts for PUM2 Gene

Unigene Clusters for PUM2 Gene

Pumilio homolog 2 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for PUM2

Alternative Splicing Database (ASD) splice patterns (SP) for PUM2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a ·
SP1: - - - -
SP2: -
SP3: - - -
SP4:
SP5: - - -
SP6: -
SP7:
SP8: - - -
SP9:

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PUM2 Gene

GeneLoc Exon Structure for
PUM2
ECgene alternative splicing isoforms for
PUM2

Expression for PUM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PUM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PUM2 Gene

This gene is overexpressed in Placenta (15.1), NK cells (9.2), and Tlymphocyte (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUM2 Gene



Protein tissue co-expression partners for PUM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PUM2 Gene:

PUM2

SOURCE GeneReport for Unigene cluster for PUM2 Gene:

Hs.467824

mRNA Expression by UniProt/SwissProt for PUM2 Gene:

Q8TB72-PUM2_HUMAN
Tissue specificity: Expressed in male germ cells of adult testis (at protein level). Highly expressed in testis and ovary. Predominantly expressed in stem cells and germ cells. Expressed at lower level in brain, heart, kidney, liver, muscle, placenta, intestine and stomach Expressed in cerebellum, corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues tested.

Evidence on tissue expression from TISSUES for PUM2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with PUM2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PUM2 Gene

Orthologs for PUM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PUM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUM2 33 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia PUM2 33 34
  • 96.48 (n)
dog
(Canis familiaris)
Mammalia PUM2 33 34
  • 96.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pum2 33 16 34
  • 94.31 (n)
rat
(Rattus norvegicus)
Mammalia Pum2 33
  • 93.93 (n)
oppossum
(Monodelphis domestica)
Mammalia PUM2 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUM2 33 34
  • 86.57 (n)
lizard
(Anolis carolinensis)
Reptilia PUM2 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pum2 33
  • 76.94 (n)
zebrafish
(Danio rerio)
Actinopterygii pum2 34
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pum 35 34
  • 79 (a)
worm
(Caenorhabditis elegans)
Secernentea puf-9 35
  • 59 (a)
puf-8 35
  • 43 (a)
puf-3 34
  • 25 (a)
ManyToMany
puf-11 34
  • 22 (a)
ManyToMany
fbf-1 34
  • 21 (a)
ManyToMany
fbf-2 34
  • 21 (a)
ManyToMany
puf-7 34
  • 21 (a)
ManyToMany
puf-5 34
  • 20 (a)
ManyToMany
puf-6 34
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUF3 34 36
  • 29 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.2466 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9347 34
  • 68 (a)
OneToMany
Species where no ortholog for PUM2 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)
  • 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)
  • 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 PUM2 Gene

ENSEMBL:
Gene Tree for PUM2 (if available)
TreeFam:
Gene Tree for PUM2 (if available)

Paralogs for PUM2 Gene

Paralogs for PUM2 Gene

(1) SIMAP similar genes for PUM2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for PUM2 Gene

genes like me logo Genes that share paralogs with PUM2: view

Variants for PUM2 Gene

Sequence variations from dbSNP and Humsavar for PUM2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000019338 -- 20,286,052(-) CAAGGGGC/C intron_variant
rs1000039942 -- 20,264,919(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000072350 -- 20,264,716(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000099109 -- 20,313,033(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000106471 -- 20,271,582(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PUM2 Gene

Variant ID Type Subtype PubMed ID
esv29979 CNV loss 17803354
esv3328571 CNV insertion 20981092
nsv1005366 CNV loss 25217958
nsv477862 CNV novel sequence insertion 20440878
nsv524207 CNV gain 19592680
nsv999153 CNV loss 25217958

Variation tolerance for PUM2 Gene

Residual Variation Intolerance Score: 1.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PUM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUM2 Gene

Disorders for PUM2 Gene

Additional Disease Information for PUM2

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

No disorders were found for PUM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PUM2 Gene

Publications for PUM2 Gene

  1. The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells. (PMID: 19168546) Ginter-Matuszewska B … Jaruzelska J (Molecular human reproduction 2009) 3 4 22 58
  2. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PMID: 12511597) Moore FL … Pera RA (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 58
  3. Conservation of a Pumilio-Nanos complex from Drosophila germ plasm to human germ cells. (PMID: 12690449) Jaruzelska J … Reijo Pera RA (Development genes and evolution 2003) 3 4 22 58
  4. Cloning and comparative sequence analysis of PUM1 and PUM2 genes, human members of the Pumilio family of RNA-binding proteins. (PMID: 12459267) Spassov DS … Jurecic R (Gene 2002) 2 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 58

Products for PUM2 Gene

  • Addgene plasmids for PUM2

Sources for PUM2 Gene

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