Human Gene PUM2 (ENST00000361078.7_10) from GENCODE V47lift37
  Description: pumilio RNA binding family member 2, transcript variant 1 (from RefSeq NM_015317.5)
Gencode Transcript: ENST00000361078.7_10
Gencode Gene: ENSG00000055917.17_17
Transcript (Including UTRs)
   Position: hg19 chr2:20,448,498-20,550,605 Size: 102,108 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr2:20,451,346-20,527,121 Size: 75,776 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:20,448,498-20,550,605)mRNA (may differ from genome)Protein (1064 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: PUM2_HUMAN
DESCRIPTION: RecName: Full=Pumilio homolog 2; Short=Pumilio-2;
FUNCTION: Sequence-specific RNA-binding protein that regulates translation and mRNA stability by binding the 3'-UTR of mRNA targets. Its interactions and tissue specificity suggest that it may be required to support proliferation and self-renewal of stem cells by regulating the translation of key transcripts.
SUBUNIT: Homodimer; homodimerizes in vitro. Interacts with DAZ, DAZL and NANOS1 via its pumilio repeats. Binds to a RNA consensus sequence, that is related to the Nanos Response Element (NRE), a 16 bp sequence found in the 3'-UTR of the Drosophila hb mRNA. Also binds to the NRE. Interacts with NANOS3 (By similarity). Interacts with SNAPIN.
INTERACTION: Q9NQZ3:DAZ1; NbExp=5; IntAct=EBI-311190, EBI-997955; Q9Q2G4:ORF (xeno); NbExp=3; IntAct=EBI-311190, EBI-6248094;
SUBCELLULAR LOCATION: Cytoplasm (Probable). Cytoplasmic granule (By similarity). 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. Co-localizes with NANOS3 in the stress granules (By similarity). Co-localizes with NANOS1 and SNAPIN in the perinuclear region of germ cells.
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.
INDUCTION: Down-regulated in keratinocytes upon UVB irradiation.
DOMAIN: The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half doughnut. The number as well as the specific sequence of the repeats determine the specificity for target mRNAs (By similarity).
SIMILARITY: Contains 1 PUM-HD domain.
SIMILARITY: Contains 8 pumilio repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.44 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 959.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.80266-0.402 Picture PostScript Text
3' UTR -659.302848-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR001313 - Pumilio_RNA-bd_rpt

Pfam Domains:
PF00806 - Pumilio-family RNA binding repeat

SCOP Domains:
48371 - ARM repeat
48029 - FliG

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3Q0Q - X-ray 3Q0R - X-ray 3Q0S - X-ray


ModBase Predicted Comparative 3D Structure on Q8TB72
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGD  WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0005515 protein binding
GO:0035198 miRNA binding

Biological Process:
GO:0006417 regulation of translation
GO:0010608 posttranscriptional regulation of gene expression
GO:0034063 stress granule assembly
GO:0035196 production of miRNAs involved in gene silencing by miRNA
GO:0043488 regulation of mRNA stability
GO:0051983 regulation of chromosome segregation
GO:0060964 regulation of gene silencing by miRNA
GO:1900246 positive regulation of RIG-I signaling pathway
GO:2000637 positive regulation of gene silencing by miRNA

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0031965 nuclear membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF315591 - Homo sapiens Pumilio 2 (PUMH2) mRNA, complete cds.
BX641165 - Homo sapiens mRNA; cDNA DKFZp686P10227 (from clone DKFZp686P10227).
D87078 - Homo sapiens KIAA0235 mRNA for KIAA0235 protein.
JD157715 - Sequence 138739 from Patent EP1572962.
JD300992 - Sequence 282016 from Patent EP1572962.
JD121154 - Sequence 102178 from Patent EP1572962.
JD234579 - Sequence 215603 from Patent EP1572962.
JD243457 - Sequence 224481 from Patent EP1572962.
JD239088 - Sequence 220112 from Patent EP1572962.
JD487265 - Sequence 468289 from Patent EP1572962.
JD328302 - Sequence 309326 from Patent EP1572962.
JD244786 - Sequence 225810 from Patent EP1572962.
BC024218 - Homo sapiens pumilio homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:3841907), partial cds.
AF272350 - Homo sapiens translational repressor pumilio (PUM2) mRNA, partial cds.
JD039724 - Sequence 20748 from Patent EP1572962.
JD262987 - Sequence 244011 from Patent EP1572962.
JD355094 - Sequence 336118 from Patent EP1572962.
JD349568 - Sequence 330592 from Patent EP1572962.
JD287616 - Sequence 268640 from Patent EP1572962.
JD556121 - Sequence 537145 from Patent EP1572962.
JD507388 - Sequence 488412 from Patent EP1572962.
JD507513 - Sequence 488537 from Patent EP1572962.
JD297200 - Sequence 278224 from Patent EP1572962.
JD347822 - Sequence 328846 from Patent EP1572962.
JD228811 - Sequence 209835 from Patent EP1572962.
JD356848 - Sequence 337872 from Patent EP1572962.
JD504542 - Sequence 485566 from Patent EP1572962.
JD051647 - Sequence 32671 from Patent EP1572962.
AK304198 - Homo sapiens cDNA FLJ53521 complete cds, highly similar to Pumilio homolog 2.
AK093847 - Homo sapiens cDNA FLJ36528 fis, clone TRACH2004039, highly similar to Pumilio homolog 2.
AX748335 - Sequence 1860 from Patent EP1308459.
JD552849 - Sequence 533873 from Patent EP1572962.
BC112046 - Homo sapiens pumilio homolog 2 (Drosophila), mRNA (cDNA clone MGC:138251 IMAGE:8327514), complete cds.
BC112048 - Homo sapiens pumilio homolog 2 (Drosophila), mRNA (cDNA clone MGC:138253 IMAGE:8327516), complete cds.
BC143550 - Homo sapiens pumilio homolog 2 (Drosophila), mRNA (cDNA clone MGC:177078 IMAGE:9052061), complete cds.
JD091464 - Sequence 72488 from Patent EP1572962.
BC143552 - Homo sapiens cDNA clone IMAGE:9052063.
AB383813 - Synthetic construct DNA, clone: pF1KSDA0235, Homo sapiens PUM2 gene for pumilio homolog 2, complete cds, without stop codon, in Flexi system.
JD490295 - Sequence 471319 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KSL0, B4E2B6, D6W527, ENST00000361078.1, ENST00000361078.2, ENST00000361078.3, ENST00000361078.4, ENST00000361078.5, ENST00000361078.6, KIAA0235, NM_015317, O00234, PUM2_HUMAN, PUMH2, Q53TV7, Q8TB72, Q8WY43, Q9HAN2, uc318bwb.1, uc318bwb.2
UCSC ID: ENST00000361078.7_10
RefSeq Accession: NM_015317.5
Protein: Q8TB72 (aka PUM2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.