• Gene id: 94103

Gene Summary

• Gene Symbol: ORMDL3   Gene   UCSC   Ensembl
• Gene name: ORMDL sphingolipid biosynthesis regulator 3
• Alternate names: ORM1-like protein 3,
• Gene location: 17q21.1 (39927600: 39921040)     Exons: 7     NC_000017.11
• OMIM: 610075

Protein Summary

• Protein general information: Q8N138  
  • Name: ORM1 like protein 3
  • Length: 153  
  • Mass: 17495
  • Tissue specificity: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus. {ECO
• Sequence:

  MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETP
  DQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGI
  NKY

• Structural information:
  • Interpro: IPR007203  IPR029883  
  • DIP: 48687
  • STRING: ENSP00000377724
• Other Databases: GeneCards:  ORMDL3  Malacards:  ORMDL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006672	ceramide metabolic process	IBA	biological process
GO:0035339	SPOTS complex	IBA	cellular component
GO:0090156	cellular sphingolipid homeostasis	IBA	biological process
GO:1900060	negative regulation of ceramide biosynthetic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0035339	SPOTS complex	IDA	cellular component
GO:0006672	ceramide metabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0090156	cellular sphingolipid homeostasis	IEA	biological process
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0035339	SPOTS complex	IDA	cellular component
GO:1900060	negative regulation of ceramide biosynthetic process	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
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: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:1900060	negative regulation of ceramide biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881