• Gene id: 81566

Gene Summary

• Gene Symbol: CSRNP2   Gene   UCSC   Ensembl
• Aliases: C12orf2, C12orf22, FAM130A1, PPP1R72, TAIP-12
• Gene name: cysteine and serine rich nuclear protein 2
• Alternate names: cysteine/serine-rich nuclear protein 2, CSRNP-2, TGF-beta-induced apoptosis protein 12, family with sequence similarity 130, member A1, protein phosphatase 1, regulatory subunit 72,
• Gene location: 12q13.12 (66677886: 66664997)     Exons: 5     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the

Protein Summary

• Protein general information: Q9H175  
  • Name: Cysteine/serine rich nuclear protein 2 (CSRNP 2) (Protein FAM130A1) (TGF beta induced apoptosis protein 12) (TAIP 12)
  • Length: 543  
  • Mass: 59591
• Sequence:

  MDAFTGSGLKRKFDDVDVGSSVSNSDDEISSSDSADSCDSLNPPTTASFTPTSILKRQKQLRRKNVRFDQVTVYY
  FARRQGFTSVPSQGGSSLGMAQRHNSVRSYTLCEFAQEQEVNHREILREHLKEEKLHAKKMKLTKNGTVESVEAD
  GLTLDDVSDEDIDVENVEVDDYFFLQPLPTKRRRALLRASGVHRIDAEEKQELRAIRLSREECGCDCRLYCDPEA
  CACSQAGIKCQVDRMSFPCGCSRDGCGNMAGRIEFNPIRVRTHYLHTIMKLELESKRQVSRPAAPDEEPSPTASC
  SLTGAQGSETQDFQEFIAENETAVMHLQSAEELERLKAEEDSSGSSASLDSSIESLGVCILEEPLAVPEELCPGL
  TAPILIQAQLPPGSSVLCFTENSDHPTASTVNSPSYLNSGPLVYYQVEQRPVLGVKGEPGTEEGSASFPKEKDLN
  VFSLPVTSLVACSSTDPAALCKSEVGKTPTLEALLPEDCNPEEPENEDFHPSWSPSSLPFRTDNEEGCGMVKTSQ
  QNEDRPPEDSSLELPLAV

• Structural information:
  • Interpro: IPR031972  IPR023260  
  • STRING: ENSP00000228515
• Other Databases: GeneCards:  CSRNP2  Malacards:  CSRNP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0019902	phosphatase binding	IDA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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: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:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray