• Gene id: 10659

Gene Summary

• Gene Symbol: CELF2   Gene   UCSC   Ensembl
• Aliases: BRUNOL3, CELF-2, CUG-BP2, CUGBP2, ETR-3, ETR3, NAPOR
• Gene name: CUGBP Elav-like family member 2
• Alternate names: CUGBP Elav-like family member 2, CUG triplet repeat RNA-binding protein 2, CUG-BP- and ETR-3-like factor 2, ELAV-type RNA-binding protein 3, KDM2B/CELF2 fusion, RNA-binding protein BRUNOL-3, bruno-like protein 3, neuroblastoma apoptosis-related RNA-binding prote,
• Gene location: 10p14 (10462514: 11336674)     Exons: 29     NC_000010.11
• Gene summary(Entrez): Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mR
• OMIM: 602538

Protein Summary

• Protein general information: O95319  
  • Name: CUGBP Elav like family member 2 (CELF 2) (Bruno like protein 3) (CUG triplet repeat RNA binding protein 2) (CUG BP2) (CUG BP and ETR 3 like factor 2) (ELAV type RNA binding protein 3) (ETR 3) (Neuroblastoma apoptosis related RNA binding protein) (hNAPOR)
  • Length: 508  
  • Mass: 54285
  • Tissue specificity: Expressed in frontal cortex. Isoform 1 is expressed in brain and lung. Isoform 2 is expressed in heart, brain, placenta, lung, liver, kidney, skeletal muscle and pancreas. Isoform 4 is expressed in heart, lung, skeletal muscle, kidney
• Sequence:

  MRCPKSAVTMRNEELLLSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDR
  SQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRV
  MFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQL
  AQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATST
  NANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGMAALNGGLGATGLTNG
  TAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVI
  SAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY

• Structural information:
  • Protein Domains: (40..12-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (132..21-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (423..50-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034196  IPR034198  IPR034199  IPR002343  IPR012677   IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12631 cd12634 cd12638
  • PDB: 2MY7 2MY8 4LJM 4LMZ 4TLQ 5M8I
  • PDBsum: 2MY7 2MY8 4LJM 4LMZ 4TLQ 5M8I
  • STRING: ENSP00000443926
• Other Databases: GeneCards:  CELF2  Malacards:  CELF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0006376	mRNA splice site selection	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0006396	RNA processing	TAS	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0036002	pre-mRNA binding	IDA	molecular function
GO:0006376	mRNA splice site selection	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray