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SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 [ Homo sapiens (human) ]

Gene ID: 57758, updated on 26-Oct-2022

Summary

Official Symbol
SCUBE2provided by HGNC
Official Full Name
signal peptide, CUB domain and EGF like domain containing 2provided by HGNC
Primary source
HGNC:HGNC:30425
See related
Ensembl:ENSG00000175356 MIM:611747; AllianceGenome:HGNC:30425
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEGB1; CEGF1; CEGP1; scube/You
Summary
Predicted to enable calcium ion binding activity; hedgehog family protein binding activity; and lipid binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including positive regulation of chondrocyte proliferation; positive regulation of osteoblast differentiation; and positive regulation of smoothened signaling pathway. Predicted to be located in extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in prostate (RPKM 8.1), urinary bladder (RPKM 7.3) and 20 other tissues See more
Orthologs
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Genomic context

See SCUBE2 in Genome Data Viewer
Location:
11p15.4
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (9019476..9091599, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (9103686..9176371, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (9041023..9113146, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene TMEM9 domain family member B Neighboring gene TMEM9B antisense RNA 1 Neighboring gene nuclear receptor interacting protein 3 Neighboring gene NRIP3 divergent transcript Neighboring gene microRNA 5691 Neighboring gene keratin 8 pseudogene 41 Neighboring gene uncharacterized LOC105376542

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16792, FLJ35234, MGC133057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
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
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001170690.3NP_001164161.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001164161.1

    Status: VALIDATED

    Source sequence(s)
    AC079296, AK123039, AL133990, BC111690
    Consensus CDS
    CCDS53599.1
    UniProtKB/Swiss-Prot
    Q9NQ36
    Related
    ENSP00000415187.2, ENST00000450649.6
    Conserved Domains (4) summary
    pfam07699
    Location:631678
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  2. NM_001330199.3NP_001317128.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC079296, AK092553, AL133990, DA739146, DA999556, DB002185, DB004372
    Consensus CDS
    CCDS81553.1
    UniProtKB/Swiss-Prot
    Q6ZWI1, Q9NQ36
    UniProtKB/TrEMBL
    B3KS09
    Related
    ENSP00000310658.3, ENST00000309263.7
    Conserved Domains (5) summary
    cd00041
    Location:809920
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:757804
    Ephrin_rec_like; Putative ephrin-receptor like
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  3. NM_001367977.2NP_001354906.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC079296, KF459545
    Consensus CDS
    CCDS91436.1
    UniProtKB/TrEMBL
    A0A3B3ISZ7
    Related
    ENSP00000497523.1, ENST00000649792.2
  4. NM_020974.4NP_066025.2  signal peptide, CUB and EGF-like domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_066025.2

    Status: VALIDATED

    Source sequence(s)
    AC079296, AK123039, AL133990, BC111690
    Consensus CDS
    CCDS7797.2
    UniProtKB/Swiss-Prot
    Q9NQ36
    UniProtKB/TrEMBL
    A0A0A0MTC8
    Related
    ENSP00000429969.1, ENST00000520467.5
    Conserved Domains (5) summary
    cd00041
    Location:781892
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:729776
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    9019476..9091599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427364.1XP_047283320.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X19

  2. XM_047427365.1XP_047283321.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X20

  3. XM_005253036.5XP_005253093.2  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X10

    See identical proteins and their annotated locations for XP_005253093.2

    Conserved Domains (5) summary
    cd00041
    Location:729840
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:677724
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:286321
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  4. XM_017018081.2XP_016873570.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X15

  5. XM_017018080.2XP_016873569.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X4

    Conserved Domains (4) summary
    smart00179
    Location:86126
    EGF_CA; Calcium-binding EGF-like domain
    cd00041
    Location:768879
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07645
    Location:4578
    EGF_CA; Calcium-binding EGF domain
    cl00057
    Location:312361
    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 ...
  6. XM_047427356.1XP_047283312.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X9

  7. XM_005253034.5XP_005253091.2  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X1

    Conserved Domains (5) summary
    cd00041
    Location:797908
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:745792
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:286321
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  8. XM_047427367.1XP_047283323.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X23

  9. XM_005253037.5XP_005253094.2  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X18

    Conserved Domains (5) summary
    cd00041
    Location:683794
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:631678
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  10. XM_047427359.1XP_047283315.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X12

  11. XM_047427361.1XP_047283317.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X14

  12. XM_011520247.3XP_011518549.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X3

    Conserved Domains (5) summary
    cd00041
    Location:770881
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:718765
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  13. XM_047427353.1XP_047283309.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X6

  14. XM_047427354.1XP_047283310.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X7

  15. XM_011520246.3XP_011518548.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X2

    Conserved Domains (4) summary
    pfam07699
    Location:786833
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  16. XM_047427369.1XP_047283325.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X25

  17. XM_017018082.3XP_016873571.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X21

  18. XM_047427358.1XP_047283314.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X11

  19. XM_047427370.1XP_047283326.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X26

  20. XM_047427368.1XP_047283324.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X24

  21. XM_047427366.1XP_047283322.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X22

  22. XM_047427363.1XP_047283319.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X17

  23. XM_047427355.1XP_047283311.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X8

  24. XM_047427360.1XP_047283316.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X13

  25. XM_047427362.1XP_047283318.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X16

  26. XM_005253035.5XP_005253092.2  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X5

    Conserved Domains (5) summary
    cd00041
    Location:838949
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:786833
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...
  27. XM_047427371.1XP_047283327.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X28

  28. XM_047427372.1XP_047283328.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X29

  29. XM_011520248.3XP_011518550.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X27

    Conserved Domains (3) summary
    pfam12947
    Location:4984
    EGF_3; EGF domain
    pfam14670
    Location:407442
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:312361
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    9103686..9176371 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)