• Gene id: 23554

Gene Summary

• Gene Symbol: TSPAN12   Gene   UCSC   Ensembl
• Aliases: EVR5, NET-2, NET2, TM4SF12
• Gene name: tetraspanin 12
• Alternate names: tetraspanin-12, tetraspan NET-2, transmembrane 4 superfamily member 12, tspan-12,
• Gene location: 7q31.31 (120858336: 120787319)     Exons: 11     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate
• OMIM: 613941

Protein Summary

• Protein general information: O95859  
  • Name: Tetraspanin 12 (Tspan 12) (Tetraspan NET 2) (Transmembrane 4 superfamily member 12)
  • Length: 305  
  • Mass: 35383
• Sequence:

  MAREDSVKCLRCLLYALNLLFWLMSISVLAVSAWMRDYLNNVLTLTAETRVEEAVILTYFPVVHPVMIAVCCFLI
  IVGMLGYCGTVKRNLLLLAWYFGSLLVIFCVELACGVWTYEQELMVPVQWSDMVTLKARMTNYGLPRYRWLTHAW
  NFFQREFKCCGVVYFTDWLEMTEMDWPPDSCCVREFPGCSKQAHQEDLSDLYQEGCGKKMYSFLRGTKQLQVLRF
  LGISIGVTQILAMILTITLLWALYYDRREPGTDQMMSLKNDNSQHLSCPSVELLKPSLSRIFEHTSMANSFNTHF
  EMEEL

• Structural information:
  • Interpro: IPR000301  IPR018499  IPR018503  IPR008952  
  • Prosite: PS00421
  • STRING: ENSP00000222747
• Other Databases: GeneCards:  TSPAN12  Malacards:  TSPAN12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0042813	Wnt-activated receptor activity	ISS	NOT|molecular function
GO:0010842	retina layer formation	ISS	biological process
GO:0045765	regulation of angiogenesis	ISS	biological process
GO:0007166	cell surface receptor signaling pathway	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010842	retina layer formation	IEA	biological process
GO:0045765	regulation of angiogenesis	IEA	biological process
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Familial exudative vitreoretinopathy	KEGG:H00589
Familial exudative vitreoretinopathy	KEGG:H00589
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)