SCUBE2

Signal peptide, CUB domain and EGF-like domain-containing protein 2

Gene Information Card

Symbol SCUBE2
Full Name Signal peptide, CUB domain and EGF-like domain-containing protein 2
Gene Type protein-coding
Chromosomal Location 11p15.3
NCBI Gene ID 57758 ncbi.nlm.nih.gov/gene/57758
Ensembl ID ENSG00000175356
UniProt ID Q9NQ36
OMIM ID 611746
HGNC ID 30424
Aliases CEGP1, MEGF2

Description

SCUBE2 encodes a member of the SCUBE (signal peptide, CUB domain, and EGF-like domain) family of secreted and membrane-associated proteins. The protein contains an N-terminal signal peptide, multiple EGF-like repeats, a CUB domain, and a C-terminal cysteine-rich region. It is involved in hedgehog signaling, angiogenesis, and cell adhesion. SCUBE2 is expressed in various tissues and has been implicated in cancer progression and developmental processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer SCUBE2 overexpression promotes tumor growth and metastasis via hedgehog pathway activation PMID: 21362587
Prostate cancer SCUBE2 enhances androgen receptor signaling and cell proliferation PMID: 25605247
Hepatocellular carcinoma SCUBE2 upregulation correlates with poor prognosis and epithelial-mesenchymal transition PMID: 27323851

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 12.3 Medium
Liver 8.7 Medium
Kidney 15.2 Medium
Lung 6.4 Low
Breast 9.1 Medium
Cell Line Expression
Cell Line nTPM Notes
MCF7 11.5 Breast cancer cell line
HepG2 14.2 Hepatocellular carcinoma cell line
PC3 8.9 Prostate cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T missense 0.02% p.Pro412Ser; uncertain significance
c.567G>A missense 0.01% p.Val189Met; uncertain significance
Mutation functional classification

Loss of Function (LOF)

No well-characterized loss-of-function mutations reported in SCUBE2.

Gain of Function (GOF)

Overexpression of SCUBE2 is associated with oncogenic signaling in several cancers.

Dominant Negative (DN)

No dominant-negative mutations described for SCUBE2.

Gene Ontology (GO)

• calcium ion binding • heparin binding
• extracellular matrix structural constituent • cell adhesion
• angiogenesis • hedgehog signaling pathway

Pathways

• Hedgehog signaling pathway
• Cell adhesion molecules (CAMs)

Protein Summary

SCUBE2 is a secreted and membrane-associated glycoprotein that modulates hedgehog signaling and cell adhesion. It contains EGF-like repeats and a CUB domain, facilitating interactions with extracellular matrix components and receptors. The protein is implicated in tumor progression and developmental morphogenesis.

Related Products

Product name Cat.No. Species Gene ID
SCUBE2 Knockout HEK293 Cell Line EDJ-KQ15194 Human 57758 Details Get a Quote
SCUBE2 Knockout HeLa Cell Line EDJ-KQ56913 Human 57758 Details Get a Quote
SCUBE2 Knockout A-549 Cell Line EDJ-KQ65421 Human 57758 Details Get a Quote
SCUBE2 Knockout HCT 116 Cell Line EDJ-KQ73858 Human 57758 Details Get a Quote
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