PUM2 (pumilio RNA binding family member 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23369 |
| Gene name | Pumilio RNA binding family member 2 |
| Gene symbol | PUM2 |
| Synonyms (NCBI Gene) |
PUMH2PUML2
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| Chromosome | 2 |
| Chromosome location | 2p24.1 |
| Summary | 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 |
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miRNA
miRNA information provided by mirtarbase database.
931
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8TB72 | |||||||||||||||||||||||||||||||||||||||||||||
| Protein name | Pumilio homolog 2 (Pumilio-2) | |||||||||||||||||||||||||||||||||||||||||||||
| Protein 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 Respo | |||||||||||||||||||||||||||||||||||||||||||||
| PDB | 3Q0Q , 3Q0R , 3Q0S | |||||||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | 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, int | |||||||||||||||||||||||||||||||||||||||||||||
| Sequence |
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| Sequence length | 1066 | |||||||||||||||||||||||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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