Scube2 signal peptide, CUB domain, EGF-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scube2provided by MGI
Official Full Name: signal peptide, CUB domain, EGF-like 2provided by MGI
Primary source: MGI:MGI:1928765
See related: Ensembl:ENSMUSG00000007279 AllianceGenome:MGI:1928765
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cegf1; Cegp1; 4932442O19Rik
Summary: Enables hedgehog family protein binding activity. Acts upstream of or within several processes, including chondrocyte differentiation involved in endochondral bone morphogenesis; positive regulation of chondrocyte proliferation; and positive regulation of osteoblast differentiation. Located in extracellular space. Is expressed in several structures, including cardiovascular system; central nervous system; neural ectoderm; sensory organ; and skeleton. Orthologous to human SCUBE2 (signal peptide, CUB domain and EGF like domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung adult (RPKM 8.1), bladder adult (RPKM 4.4) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E3; 7 57.53 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (109397897..109464886, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (109798690..109865679, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MMP-2-mediated Scube2 degradation promotes blood-brain barrier disruption by blocking the interaction between astrocytes and endothelial cells via inhibiting Sonic hedgehog pathway during early cerebral ischemia.
Title: MMP-2-mediated Scube2 degradation promotes blood-brain barrier disruption by blocking the interaction between astrocytes and endothelial cells via inhibiting Sonic hedgehog pathway during early cerebral ischemia.
Importantly, Scube2 uncouples processing of Shh peptides from their lipid-mediated juxtamembrane positioning, and thereby explains the long-standing conundrum that N-terminally unlipidated Shh shows patterning activity in Scube2-expressing vertebrates.
Title: Ca(2+) coordination controls sonic hedgehog structure and its Scube2-regulated release.
Endothelial SCUBE2 may be a novel coreceptor for VEGFR2 and potentiate VEGF-induced signaling in adult angiogenesis.
Title: Endothelial SCUBE2 Interacts With VEGFR2 and Regulates VEGF-Induced Angiogenesis.
Scube2 plays a key regulatory role in Ihh-dependent endochondral bone formation.
Title: Disruption of Scube2 Impairs Endochondral Bone Formation.
The role of Scube/You proteins in Hh signaling in vivo is to facilitate the release and mobilization of Hh proteins for distant action.
Title: Scube/You activity mediates release of dually lipid-modified Hedgehog signal in soluble form.
Scube2 may play an important role during development of multiple regions in the embryo.
Title: Scube2 expression extends beyond the central nervous system during mouse development.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

MARC_14461-14462:1010436954:1 (e-PCR)
- UniSTS:267677

MARC_14461-14462:1032183510:1 (e-PCR)
- UniSTS:267677

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hedgehog family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within chondrocyte differentiation involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of chondrocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISA Inferred from Sequence Alignment more info
located_in extrinsic component of plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: signal peptide, CUB and EGF-like domain-containing protein 2

Names: CUB domain and EGF-like repeat containing 1; scube/You

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_020052.2 → NP_064436.2 signal peptide, CUB and EGF-like domain-containing protein 2 precursor

Status: VALIDATED

Source sequence(s)

AC132584, AC165959, AK016571, AK142950, CO044579

Consensus CDS

CCDS21740.2

UniProtKB/Swiss-Prot

Q9JJS0

UniProtKB/TrEMBL

D3YVM9

Related

ENSMUSP00000102340.2, ENSMUST00000106729.8

Conserved Domains (5) summary

cd00041
Location:778 → 889

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam07699
Location:726 → 773

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:47 → 82

EGF_3; EGF domain

pfam14670
Location:284 → 319

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:310 → 359

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...