• Gene id: 152579

Gene Summary

• Gene Symbol: SCFD2   Gene   UCSC   Ensembl
• Aliases: STXBP1L1
• Gene name: sec1 family domain containing 2
• Alternate names: sec1 family domain-containing protein 2, syntaxin binding protein 1-like 1,
• Gene location: 4q12 (43484657: 43444251)     Exons: 7     NC_000005.10

Protein Summary

• Protein general information: Q8WU76  
  • Name: Sec1 family domain containing protein 2 (Syntaxin binding protein 1 like 1)
  • Length: 684  
  • Mass: 75127
• Sequence:

  MSASGVLSFTQQGWEQVLAKVKRAVVYLDAACAESLHWGCGSTRLLEAVGGPDCHLREFEPDAIGGGAKQPKAVF
  VLSCLLKGRTVEILRDIICRSHFQYCVVVTTVSHAVHLTANHVPAAAAAEMEGQQPVFEQLEEKLCEWMGNMNYT
  AEVFHVPLLLAPVAPHFALTPAFASLFPLLPQDVHLLNSARPDKRKLGSLGDVDSTTLTPELLLQIRCLVSGLSS
  LCEHLGVREECFAVGSLSQVIAADLANYAPAKNRKKTAAGRASVVFVDRTLDLTGAVGHHGDNLVEKIISALPQL
  PGHTNDVMVNMIALTALHTEEENYNVVAPGCLSQSSDTTAKALWEALLNTKHKEAVMEVRRHLVEAASRENLPIK
  MSMGRVTPGQLMSYIQLFKNNLKALMNHCGLLQLGLATAQTLKHPQTAKWDNFLAFERLLLQSIGESAMSVVLNQ
  LLPMIKPVTQRTNEDYSPEELLILLIYIYSVTGELTVDKDLCEAEEKVKKALAQVFCEESGLSPLLQKITDWDSS
  INLTFHKSKIAVDELFTSLRDIAGARSLLKQFKSVYVPGNHTHQASYKPLLKQVVEEIFHPERPDSVDIEHMSSG
  LTDLLKTGFSMFMKVSRPHPSDYPLLILFVVGGVTVSEVKMVKDLVASLKPGTQVIVLSTRLLKPLNIPELLFAT
  DRLHPDLGF

• Structural information:
  • Interpro: IPR027482  IPR001619  IPR036045  
  • STRING: ENSP00000384182
• Other Databases: GeneCards:  SCFD2  Malacards:  SCFD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq