• Gene id: 84501

Gene Summary

• Gene Symbol: SPIRE2   Gene   UCSC   Ensembl
• Aliases: Spir-2
• Gene name: spire type actin nucleation factor 2
• Alternate names: protein spire homolog 2, spire actin nucleation factor 2, spire family actin nucleation factor 2, spire homolog 2,
• Gene location: 16q24.3 (89828474: 89871318)     Exons: 15     NC_000016.10
• OMIM: 608976

Protein Summary

• Protein general information: Q8WWL2  
  • Name: Protein spire homolog 2 (Spir 2)
  • Length: 714  
  • Mass: 79671
• Sequence:

  MARAGSCGGAAAGAGRPEPWELSLEEVLKAYEQPLNEEQAWAVCFQGCRGLRGSPGRRLRDTGDLLLRGDGSVGA
  REPEAAEPATMVVPLASSEAQTVQSLGFAIYRALDWGLDESEERELSPQLERLIDLMANNDSEDSGCGAADEGYG
  GPEEEEEAEGVPRSVRTFAQAMRLCAARLTDPRGAQAHYQAVCRALFVETLELRAFLARVREAKEMLQKLREDEP
  HLETPRAELDSLGHTDWARLWVQLMRELRRGVKLKKVQEQEFNPLPTEFQLTPFEMLMQDIRARNYKLRKVMVDG
  DIPPRVKKDAHELILDFIRSRPPLKQVSERRLRPLPPKQRSLHEKILEEIKQERRLRPVRGEGWAARGFGSLPCI
  LNACSGDAKSTSCINLSVTDAGGSAQRPRPRVLLKAPTLAEMEEMNTSEEEESPCGEVTLKRDRSFSEHDLAQLR
  SEVASGLQSATHPPGGTEPPRPRAGSAHVWRPGSRDQGTCPASVSDPSHPLLSNRGSSGDRPEASMTPDAKHLWL
  EFSHPVESLALTVEEVMDVRRVLVKAEMEKFLQNKELFSSLKKGKICCCCRAKFPLFSWPPSCLFCKRAVCTSCS
  IKMKMPSKKFGHIPVYTLGFESPQRVSAAKTAPIQRRDIFQSLQGPQWQSVEEAFPHIYSHGCVLKDVCSECTSF
  VADVVRSSRKSVDVLNTTPRRSRQTQSLYIPNTRTLDFK

• Structural information:
  • Protein Domains: (22..20-)
    (/note="KIND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00709-)
    (248..26-)
    (/note="WH2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406-)
    (278..29-)
    (/note="WH2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406-)
    (-)
  • Interpro: IPR011019  IPR029901  IPR029904  IPR003124  IPR011011  
  • Prosite: PS51377 PS51082
  • PDB: 5JCY
  • PDBsum: 5JCY
  • STRING: ENSP00000367494
• Other Databases: GeneCards:  SPIRE2  Malacards:  SPIRE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070649	formin-nucleated actin cable assembly	ISS	biological process
GO:0051295	establishment of meiotic spindle localization	IMP	biological process
GO:0046907	intracellular transport	ISS	biological process
GO:0040038	polar body extrusion after meiotic divisions	ISS	biological process
GO:0030659	cytoplasmic vesicle membrane	ISS	cellular component
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0070649	formin-nucleated actin cable assembly	IMP	biological process
GO:0036089	cleavage furrow formation	ISS	biological process
GO:0032154	cleavage furrow	ISS	colocalizes with
GO:2000781	positive regulation of double-strand break repair	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0045010	actin nucleation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0040038	polar body extrusion after meiotic divisions	IEA	biological process
GO:0046907	intracellular transport	IEA	biological process
GO:0051295	establishment of meiotic spindle localization	IEA	biological process
GO:0070649	formin-nucleated actin cable assembly	IEA	biological process
GO:0032154	cleavage furrow	IEA	cellular component
GO:0036089	cleavage furrow formation	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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