Aliases for SCUBE2 Gene

Aliases for SCUBE2 Gene

  • Signal Peptide, CUB Domain And EGF Like Domain Containing 2 2 3 5
  • Signal Peptide, CUB And EGF-Like Domain-Containing Protein 2 3 4
  • Scube/You 3 4
  • CEGP1 3 4
  • Signal Peptide, CUB Domain, EGF-Like 2 2
  • Protein CEGP1 4
  • FLJ16792 2
  • SCUBE2 5
  • CEGB1 3
  • CEGF1 3
  • Cegf1 2
  • Cegb1 2

External Ids for SCUBE2 Gene

Previous GeneCards Identifiers for SCUBE2 Gene

  • GC11M009733
  • GC11M009081
  • GC11M009006
  • GC11M008999
  • GC11M009041
  • GC11M008711

Summaries for SCUBE2 Gene

GeneCards Summary for SCUBE2 Gene

SCUBE2 (Signal Peptide, CUB Domain And EGF Like Domain Containing 2) is a Protein Coding gene. Diseases associated with SCUBE2 include Central Nervous System Tuberculosis and Tumoral Calcinosis, Hyperphosphatemic, Familial, 1. Among its related pathways are Signaling by GPCR and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is SCUBE1.

UniProtKB/Swiss-Prot Summary for SCUBE2 Gene

  • 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:22902404, PubMed:22677548). Acts by enhancing the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface (PubMed:24522195). Synergizes with DISP1 to increase SHH secretion (PubMed:22902404). Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis (PubMed:27834687).

Additional gene information for SCUBE2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCUBE2 Gene

Genomics for SCUBE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCUBE2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCUBE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCUBE2

Top Transcription factor binding sites by QIAGEN in the SCUBE2 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • HEN1
  • Hlf
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RP58

Genomic Locations for SCUBE2 Gene

Genomic Locations for SCUBE2 Gene
chr11:9,019,476-9,138,114
(GRCh38/hg38)
Size:
118,639 bases
Orientation:
Minus strand
chr11:9,041,047-9,159,661
(GRCh37/hg19)
Size:
118,615 bases
Orientation:
Minus strand

Genomic View for SCUBE2 Gene

Genes around SCUBE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCUBE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCUBE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCUBE2 Gene

Proteins for SCUBE2 Gene

  • Protein details for SCUBE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ36-SCUB2_HUMAN
    Recommended name:
    Signal peptide, CUB and EGF-like domain-containing protein 2
    Protein Accession:
    Q9NQ36
    Secondary Accessions:
    • Q2NKQ8
    • Q6ZWI1

    Protein attributes for SCUBE2 Gene

    Size:
    999 amino acids
    Molecular mass:
    109957 Da
    Quaternary structure:
    • Interacts with SHH via the cholesterol anchor of the dually lipid-modified SHH (ShhNp) (PubMed:19480626, PubMed:22902404). Interacts with PTCH1 (PubMed:19480626, PubMed:22902404). Forms homooligomers and heterooligomers with SCUBE1 and SCUBE3 (By similarity). Interacts with VEGFR2 (PubMed:27834687).

    Alternative splice isoforms for SCUBE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCUBE2 Gene

Post-translational modifications for SCUBE2 Gene

  • N-glycosylated.
  • Glycosylation at Asn659 and Asn761
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SCUB2_HUMAN (1745)

No data available for DME Specific Peptides for SCUBE2 Gene

Domains & Families for SCUBE2 Gene

Gene Families for SCUBE2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SCUBE2 Gene

Suggested Antigen Peptide Sequences for SCUBE2 Gene

GenScript: Design optimal peptide antigens:
  • Protein CEGP1 (SCUB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQ36

UniProtKB/Swiss-Prot:

SCUB2_HUMAN :
  • The CUB domain is important for the interaction with the cholesterol-anchor of SHH. The CUB domain regulates protease recruitment and activation during SHH shedding.
Domain:
  • The CUB domain is important for the interaction with the cholesterol-anchor of SHH. The CUB domain regulates protease recruitment and activation during SHH shedding.
genes like me logo Genes that share domains with SCUBE2: view

Function for SCUBE2 Gene

Molecular function for SCUBE2 Gene

UniProtKB/Swiss-Prot 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:22902404, PubMed:22677548). Acts by enhancing the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface (PubMed:24522195). Synergizes with DISP1 to increase SHH secretion (PubMed:22902404). Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis (PubMed:27834687).

Phenotypes From GWAS Catalog for SCUBE2 Gene

Gene Ontology (GO) - Molecular Function for SCUBE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12270931
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with SCUBE2: view
genes like me logo Genes that share phenotypes with SCUBE2: view

Animal Models for SCUBE2 Gene

MGI Knock Outs for SCUBE2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCUBE2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCUBE2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SCUBE2 Gene

Localization for SCUBE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCUBE2 Gene

Secreted. Cell surface. Note=Secreted and tethered at the cell surface (PubMed:19480626). {ECO:0000269 PubMed:19480626}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCUBE2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SCUBE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0009986 cell surface IBA 21873635
genes like me logo Genes that share ontologies with SCUBE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCUBE2 Gene

Pathways & Interactions for SCUBE2 Gene

genes like me logo Genes that share pathways with SCUBE2: view

Pathways by source for SCUBE2 Gene

Interacting Proteins for SCUBE2 Gene

Gene Ontology (GO) - Biological Process for SCUBE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with SCUBE2: view

No data available for SIGNOR curated interactions for SCUBE2 Gene

Drugs & Compounds for SCUBE2 Gene

No Compound Related Data Available

Transcripts for SCUBE2 Gene

mRNA/cDNA for SCUBE2 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCUBE2

Alternative Splicing Database (ASD) splice patterns (SP) for SCUBE2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a ·
SP1: - -
SP2: - - - - - - - -
SP3: -
SP4:

ExUns: 23b · 23c
SP1:
SP2:
SP3:
SP4:

Relevant External Links for SCUBE2 Gene

GeneLoc Exon Structure for
SCUBE2

Expression for SCUBE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCUBE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCUBE2 Gene

This gene is overexpressed in Bladder (x6.6) and Pancreas (x4.5).

Protein differential expression in normal tissues from HIPED for SCUBE2 Gene

This gene is overexpressed in Plasma (41.0), Urine (14.1), Breast (7.2), and Prostate (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCUBE2 Gene



Protein tissue co-expression partners for SCUBE2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCUBE2

SOURCE GeneReport for Unigene cluster for SCUBE2 Gene:

Hs.523468

mRNA Expression by UniProt/SwissProt for SCUBE2 Gene:

Q9NQ36-SCUB2_HUMAN
Tissue specificity: Expressed in a broad spectrum of adult tissues (PubMed:12270931).

Evidence on tissue expression from TISSUES for SCUBE2 Gene

  • Skin(2)
genes like me logo Genes that share expression patterns with SCUBE2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SCUBE2 Gene

Orthologs for SCUBE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCUBE2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SCUBE2 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCUBE2 30 31
  • 91.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCUBE2 30 31
  • 89.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Scube2 30
  • 88.52 (n)
Mouse
(Mus musculus)
Mammalia Scube2 30 17 31
  • 88.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SCUBE2 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SCUBE2 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCUBE2 30 31
  • 75.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SCUBE2 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia scube2 30
  • 68.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii scube2 30 31
  • 65.01 (n)
OneToOne
Dr.3848 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG32373 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for SCUBE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SCUBE2 Gene

ENSEMBL:
Gene Tree for SCUBE2 (if available)
TreeFam:
Gene Tree for SCUBE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCUBE2: view image

Paralogs for SCUBE2 Gene

Paralogs for SCUBE2 Gene

(20) SIMAP similar genes for SCUBE2 Gene using alignment to 6 proteins:

  • SCUB2_HUMAN
  • E7EQD6_HUMAN
  • H0YD28_HUMAN
  • H0YDN3_HUMAN
  • H0YEB3_HUMAN
  • H0YEI5_HUMAN

Pseudogenes.org Pseudogenes for SCUBE2 Gene

genes like me logo Genes that share paralogs with SCUBE2: view

Variants for SCUBE2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCUBE2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
720319 Likely Benign: not provided 9,069,467(-) G/A SYNONYMOUS_VARIANT
768423 Benign: not provided 9,074,539(-) G/A SYNONYMOUS_VARIANT
795983 Likely Benign: not provided 9,025,701(-) C/G SPLICE_DONOR_VARIANT
rs1555238867 Likely Pathogenic: Cerebral arteriovenous malformation 9,033,742(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs12419343 - p.Val752Gly

Additional dbSNP identifiers (rs#s) for SCUBE2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SCUBE2 Gene

Variant ID Type Subtype PubMed ID
esv1003548 CNV insertion 20482838
esv1135936 CNV insertion 17803354
esv2744090 CNV deletion 23290073
esv2744091 CNV deletion 23290073
esv3303308 CNV mobile element insertion 20981092
esv33264 CNV loss 17666407
esv3436162 CNV insertion 20981092
esv3547294 CNV deletion 23714750
esv3891928 CNV gain 25118596
nsv467706 CNV loss 19166990
nsv499766 OTHER inversion 21111241
nsv553454 CNV loss 21841781
nsv553455 CNV loss 21841781
nsv7215 OTHER inversion 18451855
nsv7667 CNV insertion 18451855
nsv951307 CNV deletion 24416366

Variation tolerance for SCUBE2 Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.21; 92.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCUBE2 Gene

Human Gene Mutation Database (HGMD)
SCUBE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCUBE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCUBE2 Gene

Disorders for SCUBE2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SCUBE2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
central nervous system tuberculosis
  • intracranial tuberculoma
tumoral calcinosis, hyperphosphatemic, familial, 1
  • hftc1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SCUBE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SCUBE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCUBE2 Gene

Publications for SCUBE2 Gene

  1. Identification of a novel family of cell-surface proteins expressed in human vascular endothelium. (PMID: 12270931) Yang RB … Topper JN (The Journal of biological chemistry 2002) 2 3 4
  2. Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7. (PMID: 11528127) Amid C … Schmidt ER (Cytogenetics and cell genetics 2001) 2 3 4
  3. Endothelial SCUBE2 Interacts With VEGFR2 and Regulates VEGF-Induced Angiogenesis. (PMID: 27834687) Lin YC … Yang RB (Arteriosclerosis, thrombosis, and vascular biology 2017) 3 4
  4. Scube2 enhances proteolytic Shh processing from the surface of Shh-producing cells. (PMID: 24522195) Jakobs P … Grobe K (Journal of cell science 2014) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for SCUBE2 Gene

Sources for SCUBE2 Gene