SCUBE2 (signal peptide, CUB domain and EGF like domain containing 2)

Gene

• Entrez ID: 57758
• Gene name: Signal peptide, CUB domain and EGF like domain containing 2
• Gene symbol: SCUBE2
• Synonyms (NCBI Gene): CEGB1, CEGF1, CEGP1, scube/You
• Chromosome: 11
• Chromosome location: 11p15.4

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1330964	hsa-miR-1253	CLIP-seq
MIRT1330965	hsa-miR-330-3p	CLIP-seq
MIRT1330966	hsa-miR-4252	CLIP-seq
MIRT1330967	hsa-miR-888	CLIP-seq
MIRT1553255	hsa-miR-1291	CLIP-seq
MIRT1553256	hsa-miR-3173-5p	CLIP-seq
MIRT1553257	hsa-miR-3176	CLIP-seq
MIRT1553258	hsa-miR-370	CLIP-seq
MIRT1553259	hsa-miR-3922-3p	CLIP-seq
MIRT1553260	hsa-miR-4316	CLIP-seq
MIRT2322389	hsa-miR-197	CLIP-seq
MIRT2322390	hsa-miR-2861	CLIP-seq
MIRT2322391	hsa-miR-4438	CLIP-seq
MIRT2322392	hsa-miR-4505	CLIP-seq
MIRT1330964	hsa-miR-1253	CLIP-seq
MIRT2458994	hsa-miR-4519	CLIP-seq
MIRT1330964	hsa-miR-1253	CLIP-seq
MIRT2458994	hsa-miR-4519	CLIP-seq
MIRT2618647	hsa-miR-3128	CLIP-seq
MIRT2618648	hsa-miR-34a	CLIP-seq
MIRT2618649	hsa-miR-34c-5p	CLIP-seq
MIRT2618650	hsa-miR-449a	CLIP-seq
MIRT2618651	hsa-miR-449b	CLIP-seq
MIRT2618652	hsa-miR-4720-5p	CLIP-seq
MIRT2618653	hsa-miR-4799-3p	CLIP-seq
MIRT2618654	hsa-miR-512-3p	CLIP-seq
MIRT2618655	hsa-miR-609	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12270931
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA

Other IDs

• MIM: 611747
• HGNC: 30425
• e!Ensembl: ENSG00000175356

Protein

• UniProt ID: Q9NQ36
• Protein name: Signal peptide, CUB and EGF-like domain-containing protein 2 (Protein CEGP1) (Scube/You)
• Protein function: Lipid-binding protein required for SHH long-range signaling by binding to the dually lipid-modified SHH (ShhNp) and by promoting ShhNp mobilization, solubilization and release from the cell membrane (PubMed:22677548, PubMed:22902404). Acts by en
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12947	EGF_3	49 → 84	EGF domain	Domain
  PF12662	cEGF	108 → 131	Complement Clr-like EGF-like	Domain
  PF14670	FXa_inhibition	132 → 167		Domain
  PF14670	FXa_inhibition	286 → 321		Domain
  PF14670	FXa_inhibition	327 → 362		Domain
  PF14670	FXa_inhibition	407 → 442		Domain
  PF07699	Ephrin_rec_like	644 → 694	Putative ephrin-receptor like	Family
  PF07699	Ephrin_rec_like	701 → 748	Putative ephrin-receptor like	Family
  PF07699	Ephrin_rec_like	757 → 804	Putative ephrin-receptor like	Family
  PF00431	CUB	809 → 918	CUB domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a broad spectrum of adult tissues (PubMed:12270931). {ECO:0000269|PubMed:12270931}.
• Sequence:

  MGVAGRNRPGAAWAVLLLLLLLPPLLLLAGAVPPGRGRAAGPQEDVDECAQGLDDCHADA
  LCQNTPTSYKCSCKPGYQGEGRQCEDIDECGNELNGGCVHDCLNIPGNYRCTCFDGFMLA
  HDGHNCLDVDECLENNGGCQHTCVNVMGSYECCCKEGFFLSDNQHTCIHRSEEGLSCMNK
  DHGCSHICKEAPRGSVACECRPGFELAKNQRDCILTCNHGNGGCQHSCDDTADGPECSCH
  PQYKMHTDGRSCLEREDTVLEVTESNTTSVVDGDKRVKRRLLMETCAVNNGGCDRTCKDT
  STGVHCSCPVGFTLQLDGKTCKDIDECQTRNGGCDHFCKNIVGSFDCGCKKGFKLLTDEK
  SCQDVDECSLDRTCDHSCINHPGTFACACNRGYTLYGFTHCGDTNECSINNGGCQQVCVN
  TVGSYECQCHPGYKLHWNKKDCVEVKGLLPTSVSPRVSLHCGKSGGGDGCFLRCHSGIHL
  SSDVTTIRTSVTFKLNEGKCSLKNAELFPEGLRPALPEKHSSVKESFRYVNLTCSSGKQV
  PGAPGRPSTPKEMFITVEFELETNQKEVTASCDLSCIVKRTEKRLRKAIRTLRKAVHREQ
  FHLQLSGMNLDVAKKPPRTSERQAESCGVGQGHAENQCVSCRAGTYYDGARERCILCPNG
  TFQNEEGQMTCEPCPRPGNSGALKTPEAWNMSECGGLCQPGEYSADGFAPCQLCALGTFQ
  PEAGRTSCFPCGGGLATKHQGATSFQDCETRVQCSPGHFYNTTTHRCIRCPVGTYQPEFG
  KNNCVSCPGNTTTDFDGSTNITQCKNRRCGGELGDFTGYIESPNYPGNYPANTECTWTIN
  PPPKRRILIVVPEIFLPIEDDCGDYLVMRKTSSSNSVTTYETCQTYERPIAFTSRSKKLW
  IQFKSNEGNSARGFQVPYVTYDEDYQELIEDIVRDGRLYASENHQEILKDKKLIKALFDV
  LAHPQNYFKYTAQESREMFPRSFIRLLRSKVSRFLRPYK

• Sequence length: 999

Pathways

KEGG:

Hedgehog signaling pathway

Reactome:

Release of Hh-Np from the secreting cell

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebral arteriovenous malformation	Likely pathogenic	rs1555238867	RCV000656329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atherosclerosis	Atherosclerosis	Pubtator	35020748	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19291396, 24053619, 25672935, 27165221, 29981340		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19291396, 24053619, 27165221, 31404982, 33878879, 37142671	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39966932	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29545238		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32955083	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25672935		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24053619		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24053619	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27697090		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27697090	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	30508070	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19291396, 24053619, 25672935, 27165221, 29981340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24053619		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24885002, 27697090		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21652720		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	39966932	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24053619, 24885002, 25672935, 29545238		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29883759		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	24885002		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	12270931	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29981340		★☆☆☆☆ Found in Text Mining only