• Gene id: 23369

Gene Summary

• Gene Symbol: PUM2   Gene   UCSC   Ensembl
• Aliases: PUMH2, PUML2
• Gene name: pumilio RNA binding family member 2
• Alternate names: pumilio homolog 2, pumilio-2,
• Gene location: 2p24.1 (20352427: 20248690)     Exons: 28     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 607205

Protein Summary

• Protein general information: Q8TB72  
  • Name: Pumilio homolog 2 (Pumilio 2)
  • Length: 1066  
  • Mass: 114,216
• Sequence:

  MNHDFQALALESRGMGELLPTKKFWEPDDSTKDGQKGIFLGDDEWRETAWGASHHSMSQPIMVQRRSGQGFHGNS
  EVNAILSPRSESGGLGVSMVEYVLSSSPADKLDSRFRKGNFGTRDAETDGPEKGDQKGKASPFEEDQNRDLKQGD
  DDDSKINGRGLPNGMDADCKDFNRTPGSRQASPTEVVERLGPNTNPSEGLGPLPNPTANKPLVEEFSNPETQNLD
  AMEQVGLESLQFDYPGNQVPMDSSGATVGLFDYNSQQQLFQRTNALTVQQLTAAQQQQYALAAAQQPHIAGVFSA
  GLAPAAFVPNPYIISAAPPGTDPYTAAGLAAAATLAGPAVVPPQYYGVPWGVYPANLFQQQAAAAANNTASQQAA
  SQAQPGQQQVLRAGAGQRPLTPNQGQQGQQAESLAAAAAANPTLAFGQGLATGMPGYQVLAPTAYYDQTGALVVG
  PGARTGLGAPVRLMAPTPVLISSAAAQAAAAAAAGGTASSLTGSTNGLFRPIGTQPPQQQQQQPSTNLQSNSFYG
  SSSLTNSSQSSSLFSHGPGQPGSTSLGFGSGNSLGAAIGSALSGFGSSVGSSASSSATRRESLSTSSDLYKRSSS
  SLAPIGQPFYNSLGFSSSPSPIGMPLPSQTPGHSLTPPPSLSSHGSSSSLHLGGLTNGSGRYISAAPGAEAKYRS
  ASSTSSLFSSSSQLFPPSRLRYNRSDIMPSGRSRLLEDFRNNRFPNLQLRDLIGHIVEFSQDQHGSRFIQQKLER
  ATPAERQMVFNEILQAAYQLMTDVFGNYVIQKFFEFGSLDQKLALATRIRGHVLPLALQMYGCRVIQKALESISS
  DQQVISEMVKELDGHVLKCVKDQNGNHVVQKCIECVQPQSLQFIIDAFKGQVFVLSTHPYGCRVIQRILEHCTAE
  QTLPILEELHQHTEQLVQDQYGNYVIQHVLEHGRPEDKSKIVSEIRGKVLALSQHKFASNVVEKCVTHASRAERA
  LLIDEVCCQNDGPHSALYTMMKDQYANYVVQKMIDMAEPAQRKIIMHKIRPHITTLRKYTYGKHILAKLEKYYLK
  NSPDLGPIGGPPNGML

• Structural information:
  • Protein Domains: PUM-HD. (706-1048)
  • Interpro: IPR011989  IPR016024  IPR033133  IPR033712  IPR001313  
  • Prosite: PS50302 PS50303
  • CDD: cd07920
  • PDB: 3Q0Q 3Q0R 3Q0S
  • PDBsum: 3Q0Q 3Q0R 3Q0S
  • STRING: ENSP00000338173
• Other Databases: GeneCards:  PUM2  Malacards:  PUM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0010494	cytoplasmic stress granule	ISS	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0034063	stress granule assembly	IEA	biological process
GO:0043488	regulation of mRNA stability	IDA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051983	regulation of chromosome segregation	IDA	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:1900246	positive regulation of RIG-I signaling pathway	IDA	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IMP	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0010494	cytoplasmic stress granule	ISS	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0034063	stress granule assembly	IEA	biological process
GO:0043488	regulation of mRNA stability	IDA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051983	regulation of chromosome segregation	IDA	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:1900246	positive regulation of RIG-I signaling pathway	IDA	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IMP	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0010494	cytoplasmic stress granule	ISS	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0043488	regulation of mRNA stability	IDA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051983	regulation of chromosome segregation	IDA	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:1900246	positive regulation of RIG-I signaling pathway	IDA	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IMP	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 17154300
Azoospermia	MIK: 17154300
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Male sterility	MIK: 17154300
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17154300	Male sterility	intron 15 (IVS15 + 6G > A), c.774 C > T transversion (Y258Y) in exon 6		137 presenting a variety of phenotypes with spermatogenic failure	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray