• Gene id: 6744

Gene Summary

• Gene Symbol: ITPRID2   Gene   UCSC   Ensembl
• Aliases: CS-1, CS1, KRAP, SPAG13, SSFA2
• Gene name: ITPR interacting domain containing 2
• Alternate names: protein ITPRID2, ITPR-interacting domain-containing protein 2, KRAS-induced actin-interacting protein, cleavage signal-1 protein, ki-ras-induced actin-interacting protein, sperm associated antigen 13, sperm specific antigen 2,
• Gene location: 2q31.3 (181891729: 181930737)     Exons: 21     NC_000002.12
• OMIM: 118990

Protein Summary

• Protein general information: P28290  
  • Name: Protein ITPRID2 (Cleavage signal 1 protein) (CS 1) (ITPR interacting domain containing protein 2) (Ki ras induced actin interacting protein) (Sperm specific antigen 2)
  • Length: 1259  
  • Mass: 138386
  • Tissue specificity: Strongly expressed in pancreas and testis. Present in colon cancer cells (at protein level). {ECO
• Sequence:

  MDRPLSSSAEAEEELEWQVASRRRKAWAKCRSSWQASETEDLSTEATTQDEEEDEEEDLPGAQLPAAGGRGNVPN
  EKIAIWLKDCRTPLGASLDEQSSSTLKGVLVRNGGSFEDDLSLGAEANHLHESDAQIENCNNILAKERRLQFHQK
  GRSMNSTGSGKSSGTVSSVSELLELYEEDPEEILYNLGFGRDEPDIASKIPSRFFNSSSFAKGIDIKVFLSAQMQ
  RMEVENPNYALTSRFRQIEVLTTVANAFSSLYSQVSGTPLQRIGSMSSVTSNKETDPPPPLTRSNTANRLMKTLS
  KLNLCVDKTEKGESSSPSPSAEKGKILNVSVIEESGNKNDQKSQKIMKKKESSSMLATVKEEVSGSSAAVTENAD
  SDRISDEANSNFNQGTENEQSKETQSHESKLGEESGIVESKLDSDFNISSHSELENSSELKSVHISTPEKEPCAP
  LTIPSIRNIMTQQKDSFEMEEVQSTEGEAPHVPATYQLGLTKSKRDHLLRTASQHSDSSGFAEDSTDCLSLNHLQ
  VQESLQAMGSSADSCDSETTVTSLGEDLATPTAQDQPYFNESEEESLVPLQKGLEKAAAVADKRKSGSQDFPQCN
  TIENTGTKQSTCSPGDHIIEITEVEEDLFPAETVELLREASAESDVGKSSESEFTQYTTHHILKSLASIEAKCSD
  MSSENTTGPPSSMDRVNTALQRAQMKVCSLSNQRMGRSLLKSKDLLKQRYLFAKAGYPLRRSQSLPTTLLSPVRV
  VSSVNVRLSPGKETRCSPPSFTYKYTPEEEQELEKRVMEHDGQSLVKSTIFISPSSVKKEEAPQSEAPRVEECHH
  GRTPTCSRLAPPPMSQSTCSLHSIHSEWQERPLCEHTRTLSTHSVPNISGATCSAFASPFGCPYSHRHATYPYRV
  CSVNPPSAIEMQLRRVLHDIRNSLQNLSQYPMMRGPDPAAAPYSTQKSSVLPLYENTFQELQVMRRSLNLFRTQM
  MDLELAMLRQQTMVYHHMTEEERFEVDQLQGLRNSVRMELQDLELQLEERLLGLEEQLRAVRMPSPFRSSALMGM
  CGSRSADNLSCPSPLNVMEPVTELMQEQSYLKSELGLGLGEMGFEIPPGESSESVFSQATSESSSVCSGPSHANR
  RTGVPSTASVGKSKTPLVARKKVFRASVALTPTAPSRTGSVQTPPDLESSEEVDAAEGAPEVVGPKSEVEEGHGK
  LPSMPAAEEMHKNVEQDELQQVIREIKESIVGEIRREIVSGLLAAVSSSKASNSKQDYH

• Structural information:
  • Interpro: IPR029325  IPR026648  IPR029326  
  • DIP: 47271
  • STRING: ENSP00000388731
• Other Databases: GeneCards:  ITPRID2  Malacards:  ITPRID2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IDA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

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

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881