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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. GO annotations related to this gene include poly(A) RNA binding and 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.

Gene Wiki entry for PUM2 Gene

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

Genomics for PUM2 Gene

Regulatory Elements for PUM2 Gene

Enhancers for PUM2 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
GH02F020326 1.1 ENCODE 12.1 +25.9 25880 0.2 CTCF SAP130 ARID4B ZMYM3 DMAP1 DNMT3B RAD21 KMT2B ZNF366 ZNF143 PUM2 RNU7-113P GC02P020325
GH02F020383 0.5 ENCODE 11.3 -31.4 -31401 0.2 SMC3 PUM2 SLC7A15P GC02P020358
GH02F020633 1.2 Ensembl ENCODE 10.5 -283.4 -283411 5.0 HDGF PKNOX1 ZFP64 ARID4B ZNF48 YY1 ELK1 ZNF143 SP5 MXD4 ENSG00000228950 RHOB GDF7 PUM2 HS1BP3 GC02M020612
GH02F020205 1.3 FANTOM5 Ensembl ENCODE 5.4 +136.3 136251 21.3 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SDC1 RNU7-113P RNU6-961P PUM2 ENSG00000228950 RHOB GC02M020197
GH02F020047 0.6 FANTOM5 ENCODE 1.2 +301.5 301484 5.5 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 MATN3 LINC01376 ENSG00000234378 LOC105373463 TTC32 PUM2 LAPTM4A GC02P020023 PIR35445
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PUM2 on UCSC Golden Path with GeneCards custom track

Promoters for PUM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001540186 1734 3001 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for PUM2 Gene

Chromosome:
2
Start:
20,248,691 bp from pter
End:
20,352,234 bp from pter
Size:
103,544 bases
Orientation:
Minus strand

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).

    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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PUM2 (Pumilio-2)

No data available for DME Specific Peptides for PUM2 Gene

Domains & Families for PUM2 Gene

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.
  • Contains 8 pumilio repeats.
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.
  • Contains 1 PUM-HD domain.
Similarity:
  • Contains 8 pumilio repeats.
genes like me logo Genes that share domains with PUM2: view

No data available for Gene Families for PUM2 Gene

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.
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:0044822 poly(A) RNA binding IDA 22658674
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for PUM2 Gene COMPARTMENTS Subcellular localization image for PUM2 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for PUM2 Gene

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

Pathways & Interactions for PUM2 Gene

SuperPathways 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 25100735
GO:0034063 stress granule assembly IEA --
GO:0043488 regulation of mRNA stability IDA 26724866
GO:0051983 regulation of chromosome segregation IDA 26724866
genes like me logo Genes that share ontologies with PUM2: view

No data available for SIGNOR curated interactions for PUM2 Gene

Transcripts for PUM2 Gene

Unigene Clusters for PUM2 Gene

Pumilio homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with PUM2: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia PUM2 34 35
  • 96.48 (n)
dog
(Canis familiaris)
Mammalia PUM2 34 35
  • 96.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pum2 34 16 35
  • 94.31 (n)
rat
(Rattus norvegicus)
Mammalia Pum2 34
  • 93.93 (n)
oppossum
(Monodelphis domestica)
Mammalia PUM2 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUM2 34 35
  • 86.57 (n)
lizard
(Anolis carolinensis)
Reptilia PUM2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pum2 34
  • 76.94 (n)
zebrafish
(Danio rerio)
Actinopterygii pum2 35
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pum 36 35
  • 79 (a)
worm
(Caenorhabditis elegans)
Secernentea puf-9 36
  • 59 (a)
puf-8 36
  • 43 (a)
puf-3 35
  • 25 (a)
ManyToMany
puf-11 35
  • 22 (a)
ManyToMany
fbf-1 35
  • 21 (a)
ManyToMany
fbf-2 35
  • 21 (a)
ManyToMany
puf-7 35
  • 21 (a)
ManyToMany
puf-5 35
  • 20 (a)
ManyToMany
puf-6 35
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUF3 35 37
  • 29 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.2466 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9347 35
  • 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 Sequence Context AA Info Type
rs10153828 -- 20,330,187(+) taaag(C/T)gctga intron-variant
rs10164749 -- 20,273,086(+) GGTGG(A/G)ATGGT intron-variant, utr-variant-3-prime
rs10165087 -- 20,310,729(+) TAAGA(G/T)TCCAT intron-variant
rs10167183 -- 20,315,859(+) AAAAA(A/C)AAACC intron-variant
rs10167509 -- 20,286,028(+) agaga(C/T)ggagc 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)

Relevant External Links for PUM2 Gene

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

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

Disorders for PUM2 Gene

Relevant External Links for PUM2

Genetic Association Database (GAD)
PUM2
Human Genome Epidemiology (HuGE) Navigator
PUM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PUM2

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. (Mol. Hum. Reprod. 2009) 3 4 22 64
  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 F.L. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 64
  3. Conservation of a Pumilio-Nanos complex from Drosophila germ plasm to human germ cells. (PMID: 12690449) Jaruzelska J. … Reijo Pera R.A. (Dev. Genes Evol. 2003) 3 4 22 64
  4. Cloning and comparative sequence analysis of PUM1 and PUM2 genes, human members of the Pumilio family of RNA-binding proteins. (PMID: 12459267) Spassov D.S. … Jurecic R. (Gene 2002) 2 3 4 64
  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 Res. 1996) 2 3 4 64

Products for PUM2 Gene

Sources for PUM2 Gene

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