• Gene id: 80004

Gene Summary

• Gene Symbol: ESRP2   Gene   UCSC   Ensembl
• Aliases: RBM35B
• Gene name: epithelial splicing regulatory protein 2
• Alternate names: epithelial splicing regulatory protein 2, RNA binding motif protein 35A, RNA-binding motif protein 35B, RNA-binding protein 35B,
• Gene location: 16q22.1 (68236174: 68225967)     Exons: 15     NC_000016.10
• Gene summary(Entrez): ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
• OMIM: 608613

Protein Summary

• Protein general information: Q9H6T0  
  • Name: Epithelial splicing regulatory protein 2 (RNA binding motif protein 35B) (RNA binding protein 35B)
  • Length: 727  
  • Mass: 78401
  • Tissue specificity: Epithelial cell-specific. {ECO
• Sequence:

  MTPPPPPPPPPGPDPAADPAADPCPWPGSLVVLFGATAGALGRDLGSDETDLILLVWQVVEPRSRQVGTLHKSLV
  RAEAAALSTQCREASGLSADSLARAEPLDKVLQQFSQLVNGDVALLGGGPYMLCTDGQQLLRQVLHPEASRKNLV
  LPDMFFSFYDLRREFHMQHPSTCPARDLTVATMAQGLGLETDATEDDFGVWEVKTMVAVILHLLKEPSSQLFSKP
  EVIKQKYETGPCSDSTVPCPYSSKADVVDSETVVRARGLPWQSSDQDVARFFKGLNVARGGVALCLNAQGRRNGE
  ALIRFVDSEQRDLALQRHKHHMGVRYIEVYKATGEEFVKIAGGTSLEVARFLSREDQVILRLRGLPFSAGPTDVL
  GFLGPECPVTGGTEGLLFVRHPDGRPTGDAFALFACEELAQAALRRHKGMLGKRYIELFRSTAAEVQQVLNRYAS
  GPLLPTLTAPLLPIPFPLAPGTGRDCVRLRGLPYTATIEDILSFLGEAAADIRPHGVHMVLNQQGRPSGDAFIQM
  TSAERALAAAQRCHKKVMKERYVEVVPCSTEEMSRVLMGGTLGRSGMSPPPCKLPCLSPPTYTTFQATPTLIPTE
  TAALYPSSALLPAARVPAAPTPVAYYPGPATQLYLNYTAYYPSPPVSPTTVGYLTTPTAALASAPTSVLSQSGAL
  VRMQGVPYTAGMKDLLSVFQAYQLPADDYTSLMPVGDPPRTVLQAPKEWVCL

• Structural information:
  • Protein Domains: (257..35-)
    (/note="RRM-1)
    (358..43-)
    (/note="RRM-2)
    (475..55-)
    (/note="RRM-3")
  • Interpro: IPR034431  IPR012677  IPR035979  IPR012337  IPR036397   IPR000504  
  • STRING: ENSP00000418748
• Other Databases: GeneCards:  ESRP2  Malacards:  ESRP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003729	mRNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray