• Gene id: 29923

Gene Summary

• Gene Symbol: HILPDA   Gene   UCSC   Ensembl
• Aliases: C7orf68, HIG-2, HIG2
• Gene name: hypoxia inducible lipid droplet associated
• Alternate names: hypoxia-inducible lipid droplet-associated protein, hypoxia inducible gene 2, hypoxia-inducible gene 2 protein, hypoxia-inducible protein 2,
• Gene location: 7q32.1 (128455829: 128458417)     Exons: 2     NC_000007.14
• OMIM: 609499

Protein Summary

• Protein general information: Q9Y5L2  
  • Name: Hypoxia inducible lipid droplet associated protein (Hypoxia inducible gene 2 protein)
  • Length: 63  
  • Mass: 6950
  • Tissue specificity: Highly expressed in renal cell carcinoma cells but barely detectable in adjacent normal kidney tissue. Detected in some cervical and endometrial cancers. Expression also detected in fetal kidney with little or no expression observed in
• Sequence:

  MKHVLNLYLLGVVLTLLSIFVRVMESLEGLLESPSPGTSWTTRSQLANTEPTKGLPDHPSRSM

• Structural information:
  • Interpro: IPR026190  
  • STRING: ENSP00000257696
• Other Databases: GeneCards:  HILPDA  Malacards:  HILPDA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005811	lipid droplet	IBA	cellular component
GO:0035425	autocrine signaling	IBA	biological process
GO:0001819	positive regulation of cytokine production	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010884	positive regulation of lipid storage	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034389	lipid droplet organization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0030141	secretory granule	IDA	cellular component
GO:0035425	autocrine signaling	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0001819	positive regulation of cytokine production	IDA	biological process
GO:0010884	positive regulation of lipid storage	IDA	biological process
GO:0071456	cellular response to hypoxia	IEP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R