• Gene id: 29095

Gene Summary

• Gene Symbol: ORMDL2   Gene   UCSC   Ensembl
• Aliases: HSPC160, MST095, MSTP095, adoplin-2
• Gene name: ORMDL sphingolipid biosynthesis regulator 2
• Alternate names: ORM1-like protein 2, expressed in normal aorta,
• Gene location: 12q13.2 (55818040: 55821878)     Exons: 4     NC_000012.12
• OMIM: 610074

Protein Summary

• Protein general information: Q53FV1  
  • Name: ORM1 like protein 2 (Adoplin 2)
  • Length: 153  
  • Mass: 17363
  • 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:

  MNVGVAHSEVNPNTRVMNSRGIWLAYIILVGLLHMVLLSIPFFSIPVVWTLTNVIHNLATYVFLHTVKGTPFETP
  DQGKARLLTHWEQMDYGLQFTSSRKFLSISPIVLYLLASFYTKYDAAHFLINTASLLSVLLPKLPQFHGVRVFGI
  NKY

• Structural information:
  • Interpro: IPR007203  IPR029886  
  • STRING: ENSP00000243045
• Other Databases: GeneCards:  ORMDL2  Malacards:  ORMDL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090156	cellular sphingolipid homeostasis	IBA	biological process
GO:1900060	negative regulation of ceramide biosynthetic process	IBA	biological process
GO:0006672	ceramide metabolic process	IBA	biological process
GO:0035339	SPOTS complex	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006672	ceramide metabolic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0090155	negative regulation of sphingolipid biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1900060	negative regulation of ceramide biosynthetic process	IMP	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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq