HILPDA (hypoxia inducible lipid droplet associated)

Gene

• Entrez ID: 29923
• Gene name: Hypoxia inducible lipid droplet associated
• Gene symbol: HILPDA
• Synonyms (NCBI Gene): C7orf68, HIG-2, HIG2
• Chromosome: 7
• Chromosome location: 7q32.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT679605	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT679604	hsa-miR-764	HITS-CLIP	23824327
MIRT679603	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT679602	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT679601	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT392627	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT679600	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679599	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT679598	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT679597	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679596	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT679595	hsa-miR-640	HITS-CLIP	23824327
MIRT679605	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT679604	hsa-miR-764	HITS-CLIP	23824327
MIRT679603	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT679602	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT679601	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT392627	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT679600	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679599	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT679598	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT679597	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679596	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT679595	hsa-miR-640	HITS-CLIP	23824327
MIRT491085	hsa-miR-5683	PAR-CLIP	23592263
MIRT491084	hsa-miR-4476	PAR-CLIP	23592263
MIRT491082	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT491083	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT491081	hsa-miR-1324	PAR-CLIP	23592263
MIRT491080	hsa-miR-651-5p	PAR-CLIP	23592263
MIRT679605	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT679604	hsa-miR-764	HITS-CLIP	23824327
MIRT679603	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT679602	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT679601	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT392627	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT679600	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679599	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT679598	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT679597	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679596	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT679595	hsa-miR-640	HITS-CLIP	23824327
MIRT679605	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT679604	hsa-miR-764	HITS-CLIP	23824327
MIRT679603	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT679602	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT679601	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT392627	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT679600	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679599	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT679598	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT679597	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679596	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT679595	hsa-miR-640	HITS-CLIP	23824327
MIRT491085	hsa-miR-5683	PAR-CLIP	23592263
MIRT491084	hsa-miR-4476	PAR-CLIP	23592263
MIRT491082	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT491083	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT491081	hsa-miR-1324	PAR-CLIP	23592263
MIRT491080	hsa-miR-651-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IDA	20624928
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0005102	Function	Signaling receptor binding	IPI	15930302
GO:0005515	Function	Protein binding	IPI	15930302, 25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	15930302
GO:0005654	Component	Nucleoplasm	IDA
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	20624928
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15930302
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009986	Component	Cell surface	IDA	15930302
GO:0010884	Process	Positive regulation of lipid storage	IDA	20624928
GO:0010884	Process	Positive regulation of lipid storage	IEA
GO:0016020	Component	Membrane	IEA
GO:0030141	Component	Secretory granule	IDA	15930302
GO:0035425	Process	Autocrine signaling	IBA
GO:0035425	Process	Autocrine signaling	IDA	15930302
GO:0071456	Process	Cellular response to hypoxia	IEP	10690527

Other IDs

• MIM: 617905
• HGNC: 28859
• e!Ensembl: ENSG00000135245

Protein

• UniProt ID: Q9Y5L2
• Protein name: Hypoxia-inducible lipid droplet-associated protein (Hypoxia-inducible gene 2 protein)
• Protein function: Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15220	HILPDA	1 → 63	Hypoxia-inducible lipid droplet-associated	Family

• Tissue specificity: 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:

  MKHVLNLYLLGVVLTLLSIFVRVMESLEGLLESPSPGTSWTTRSQLANTEPTKGLPDHPS
  RSM

• Sequence length: 63

Pathways

Reactome:

Lipid particle organization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29191809	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28760743		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28760743		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20624928		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36862910	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	20134266	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20679884, 24416375, 27757561	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	18550099		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	20679884		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23916472		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15930302, 18550099, 24416375, 27757561		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	20624928		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20671264		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20671264, 34059134	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20671264		★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	25310734		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19177570		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25889814, 29256392	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27765905	Stimulate	★☆☆☆☆ Found in Text Mining only
Iron Metabolism Disorders	Iron Metabolism Disorders	BEFREE	30205391		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	18550099		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	15642117		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	24416375	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30205391, 31142329		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16143398		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	21124928, 26757780		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15642117		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21124928, 26757780		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37552373	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15930302, 18550099, 23916472, 31308147		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27765905	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20134266	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15930302, 18550099, 24416375, 27757561		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32109548	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33235818	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	25310734		★☆☆☆☆ Found in Text Mining only