EGFL6 (EGF like domain multiple 6)

Gene

• Entrez ID: 25975
• Gene name: EGF like domain multiple 6
• Gene symbol: EGFL6
• Synonyms (NCBI Gene): MAEG, W80
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT954704	hsa-miR-142-5p	CLIP-seq
MIRT954705	hsa-miR-340	CLIP-seq
MIRT954706	hsa-miR-3671	CLIP-seq
MIRT954707	hsa-miR-4471	CLIP-seq
MIRT954708	hsa-miR-4662a-3p	CLIP-seq
MIRT954709	hsa-miR-520d-5p	CLIP-seq
MIRT954710	hsa-miR-524-5p	CLIP-seq
MIRT954711	hsa-miR-802	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	TAS	10610727
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	TAS	10610727
GO:0007155	Process	Cell adhesion	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IEA

Other IDs

• MIM: 300239
• HGNC: 3235
• e!Ensembl: ENSG00000198759

Protein

• UniProt ID: Q8IUX8
• Protein name: Epidermal growth factor-like protein 6 (EGF-like protein 6) (MAM and EGF domains-containing gene protein)
• Protein function: May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07645	EGF_CA	94 → 138	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	174 → 217	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	219 → 259	Calcium-binding EGF domain	Domain
  PF00629	MAM	402 → 545	MAM domain, meprin/A5/mu	Domain

• Sequence:

  MPLPWSLALPLLLSWVAGGFGNAASARHHGLLASARQPGVCHYGTKLACCYGWRRNSKGV
  CEATCEPGCKFGECVGPNKCRCFPGYTGKTCSQDVNECGMKPRPCQHRCVNTHGSYKCFC
  LSGHMLMPDATCVNSRTCAMINCQYSCEDTEEGPQCLCPSSGLRLAPNGRDCLDIDECAS
  GKVICPYNRRCVNTFGSYYCKCHIGFELQYISGRYDCIDINECTMDSHTCSHHANCFNTQ
  GSFKCKCKQGYKGNGLRCSAIPENSVKEVLRAPGTIKDRIKKLLAHKNSMKKKAKIKNVT
  PEPTRTPTPKVNLQPFNYEEIVSRGGNSHGGKKGNEEKMKEGLEDEKREEKALKNDIEER
  SLRGDVFFPKVNEAGEFGLILVQRKALTSKLEHKDLNISVDCSFNHGICDWKQDREDDFD
  WNPADRDNAIGFYMAVPALAGHKKDIGRLKLLLPDLQPQSNFCLLFDYRLAGDKVGKLRV
  FVKNSNNALAWEKTTSEDEKWKTGKIQLYQGTDATKSIIFEAERGKGKTGEIAVDGVLLV
  SGLCPDSLLSVDD

• Sequence length: 553

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
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exstrophy-epispadias complex	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29934389		★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	BEFREE	23285163		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30455428		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31196165	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39187367	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31516605		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30395690, 30693973		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31516605		★☆☆☆☆ Found in Text Mining only
Fibrous Meningioma	Fibrous Meningioma	BEFREE	23285163		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	35457174	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30455428		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30455428		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23285163		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	23285163	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35457174	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30444069		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10610727, 29212026, 30455428		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20574786		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23975165	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35457174	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23285163	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34660776	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28539817		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28539817	Stimulate	★☆☆☆☆ Found in Text Mining only