EGFL8 (EGF like domain multiple 8)

Gene

• Entrez ID: 80864
• Gene name: EGF like domain multiple 8
• Gene symbol: EGFL8
• Synonyms (NCBI Gene): C6orf8, NG3
• Chromosome: 6
• Chromosome location: 6p21.32

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT954722	hsa-miR-4455	CLIP-seq
MIRT954723	hsa-miR-4650-5p	CLIP-seq
MIRT954724	hsa-miR-4659a-3p	CLIP-seq
MIRT954725	hsa-miR-4659b-3p	CLIP-seq
MIRT954726	hsa-miR-609	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001570	Process	Vasculogenesis	IBA
GO:0001701	Process	In utero embryonic development	ISS
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0009986	Component	Cell surface	IBA

Other IDs

• MIM: 609897
• HGNC: 13944
• e!Ensembl: ENSG00000241404

Protein

• UniProt ID: Q99944
• Protein name: Epidermal growth factor-like protein 8 (EGF-like protein 8) (Vascular endothelial statin-2) (VE-statin-2)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07546	EMI	35 → 102	EMI domain	Domain
  PF00008	EGF	114 → 140	EGF-like domain	Domain
  PF07645	EGF_CA	144 → 183	Calcium-binding EGF domain	Domain

• Sequence:

  MGSRAELCTLLGGFSFLLLLIPGEGAKGGSLRESQGVCSKQTLVVPLHYNESYSQPVYKP
  YLTLCAGRRICSTYRTMYRVMWREVRREVQQTHAVCCQGWKKRHPGALTCEAICAKPCLN
  GGVCVRPDQCECAPGWGGKHCHVDVDECRTSITLCSHHCFNTAGSFTCGCPHDLVLGVDG
  RTCMEGSPEPPTSASILSVAVREAEKDERALKQEIHELRGRLERLEQWAGQAGAWVRAVL
  PVPPEELQPEQVAELWGRGDRIESLSDQVLLLEERLGACSCEDNSLGLGVNHR

• Sequence length: 293

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
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma	Carcinoma	BEFREE	21965749		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21737648, 21965749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21965749		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21737648, 21965749		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASCAT_DG	21323541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	29268706	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39796130	Inhibit	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21965749		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20526339		★☆☆☆☆ Found in Text Mining only