Gene Gene information from NCBI Gene database.
Entrez ID 23369
Gene name Pumilio RNA binding family member 2
Gene symbol PUM2
Synonyms (NCBI Gene)
PUMH2PUML2
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
miRNA miRNA information provided by mirtarbase database.
931
miRTarBase ID miRNA Experiments Reference
MIRT021291 hsa-miR-125a-5p Sequencing 20371350
MIRT024251 hsa-miR-218-5p Sequencing 20371350
MIRT025372 hsa-miR-34a-5p Sequencing 20371350
MIRT025614 hsa-miR-10a-5p Sequencing 20371350
MIRT039900 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001942 Process Hair follicle development IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 26724866
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607205 14958 ENSG00000055917
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00806 PUF 730 764 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 767 799 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 802 837 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 840 872 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 876 910 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 912 946 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 948 982 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 992 1025 Pumilio-family RNA binding repeat Repeat
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
MNHDFQALALESRGMGELLPTKKFWEPDDSTKDGQKGIFLGDDEWRETAWGASHHSMSQP
IMVQRRSGQGFHGNSEVNAILSPRSESGGLGVSMVEYVLSSSPADKLDSRFRKGNFGTRD
AETDGPEKGDQKGKASPFEEDQNRDLKQGDDDDSKINGRGLPNGMDADCKDFNRTPGSRQ
ASPTEVVERLGPNTNPSEGLGPLPNPTANKPLVEEFSNPETQNLDAMEQVGLESLQFDYP
GNQVPMDSSGATVGLFDYNSQQQLFQRTNALTVQQLTAAQQQQYALAAAQQPHIAGVFSA
GLAPAAFVPNPYIISAAPPGTDPYTAAGLAAAATLAGPAVVPPQYYGVPWGVYPANLFQQ
QAAAAANNTASQQAASQAQPGQQQVLRAGAGQRPLTPNQGQQGQQAESLAAAAAANPTLA
FGQGLATGMPGYQVLAPTAYYDQTGALVVGPGARTGLGAPVRLMAPTPVLISSAAAQAAA
AAAAGGTASSLTGSTNGLFRPIGTQPPQQQQQQPSTNLQSNSFYGSSSLTNSSQSSSLFS
HGPGQPGSTSLGFGSGNSLGAAIGSALSGFGSSVGSSASSSATRRESLSTSSDLYKRSSS
SLAPIGQPFYNSLGFSSSPSPIGMPLPSQTPGHSLTPPPSLSSHGSSSSLHLGGLTNGSG
RYISAAPGAEAKYRSASSTSSLFSSSSQLFPPSRLRYNRSDIMPSGRSRLLEDFRNNRFP
NLQLRDLIGHIVEFSQDQHGSRFIQQKLERATPAERQMVFNEILQAAYQLMTDVFGNYVI
QKFFEFGSLDQKLALATRI
RGHVLPLALQMYGCRVIQKALESISSDQQVISEMVKELDGH
VLKCVKDQNGNHVVQKCIECVQPQSLQFIIDA
FKGQVFVLSTHPYGCRVIQRILEHCTAE
QTLPILEELH
QHTEQLVQDQYGNYVIQHVLEHGRPEDKSKIVSEIRGKVLALSQHKFASN
VVEKCVTHASRAERALLIDEVC
CQNDGPHSALYTMMKDQYANYVVQKMIDMAEPAQRKII
MHKIR
PHITTLRKYTYGKHILAKLEKYYLKNSPDLGPIGGPPNGML
Sequence length 1066
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spinocerebellar ataxia   Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 30909144
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 32316190
★☆☆☆☆
Found in Text Mining only
DNA Virus Infections Associate 35317841
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 32945477
★☆☆☆☆
Found in Text Mining only
Fibrosis Associate 31284728
★☆☆☆☆
Found in Text Mining only
Heart Failure Associate 31284728
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 32945477
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 40524221
★☆☆☆☆
Found in Text Mining only
Neuralgia Associate 33557274
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Inhibit 30084199
★☆☆☆☆
Found in Text Mining only