• Gene id: 85477

Gene Summary

• Gene Symbol: SCIN   Gene   UCSC   Ensembl
• Gene name: scinderin
• Alternate names: adseverin,
• Gene location: 7p21.3 (12570719: 12660181)     Exons: 18     NC_000007.14
• Gene summary(Entrez): SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]
• OMIM: 613416

Protein Summary

• Protein general information: Q9Y6U3  
  • Name: Adseverin (Scinderin)
  • Length: 715  
  • Mass: 80489
  • Tissue specificity: Expressed in megakaryocytes. {ECO
• Sequence:

  MARELYHEEFARAGKQAGLQVWRIEKLELVPVPQSAHGDFYVGDAYLVLHTAKTSRGFTYHLHFWLGKECSQDES
  TAAAIFTVQMDDYLGGKPVQNRELQGYESNDFVSYFKGGLKYKAGGVASGLNHVLTNDLTAKRLLHVKGRRVVRA
  TEVPLSWDSFNKGDCFIIDLGTEIYQWCGSSCNKYERLKANQVATGIRYNERKGRSELIVVEEGSEPSELIKVLG
  EKPELPDGGDDDDIIADISNRKMAKLYMVSDASGSMRVTVVAEENPFSMAMLLSEECFILDHGAAKQIFVWKGKD
  ANPQERKAAMKTAEEFLQQMNYSKNTQIQVLPEGGETPIFKQFFKDWRDKDQSDGFGKVYVTEKVAQIKQIPFDA
  SKLHSSPQMAAQHNMVDDGSGKVEIWRVENNGRIQVDQNSYGEFYGGDCYIILYTYPRGQIIYTWQGANATRDEL
  TTSAFLTVQLDRSLGGQAVQIRVSQGKEPVHLLSLFKDKPLIIYKNGTSKKGGQAPAPPTRLFQVRRNLASITRI
  VEVDVDANSLNSNDVFVLKLPQNSGYIWVGKGASQEEEKGAEYVASVLKCKTLRIQEGEEPEEFWNSLGGKKDYQ
  TSPLLETQAEDHPPRLYGCSNKTGRFVIEEIPGEFTQDDLAEDDVMLLDAWEQIFIWIGKDANEVEKKESLKSAK
  MYLETDPSGRDKRTPIVIIKQGHEPPTFTGWFLGWDSSKW

• Structural information:
  • Interpro: IPR029006  IPR030012  IPR007123  IPR036180  IPR007122  
  • PDB: 3FG6 5A1K 5A1M
  • PDBsum: 3FG6 5A1K 5A1M
  • STRING: ENSP00000297029
• Other Databases: GeneCards:  SCIN  Malacards:  SCIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007417	central nervous system development	IBA	biological process
GO:0008154	actin polymerization or depolymerization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0030031	cell projection assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0051016	barbed-end actin filament capping	IBA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0051014	actin filament severing	IBA	biological process
GO:0032330	regulation of chondrocyte differentiation	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051014	actin filament severing	IEA	biological process
GO:0051693	actin filament capping	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0045010	actin nucleation	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0051693	actin filament capping	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005545	1-phosphatidylinositol binding	TAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051047	positive regulation of secretion	ISS	biological process
GO:0051015	actin filament binding	ISS	molecular function
GO:0017156	calcium-ion regulated exocytosis	ISS	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0003779	actin binding	TAS	molecular function
GO:0003779	actin binding	ISS	molecular function
GO:0001786	phosphatidylserine binding	ISS	molecular function
GO:0042989	sequestering of actin monomers	IMP	biological process
GO:0051014	actin filament severing	IMP	biological process
GO:0045654	positive regulation of megakaryocyte differentiation	IMP	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0051127	positive regulation of actin nucleation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05203	Viral carcinogenesis
hsa04666	Fc gamma R-mediated phagocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray