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

    Gene ID: 57758, updated on 10-Dec-2024

    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 chondrocyte differentiation involved in endochondral bone morphogenesis; positive regulation of chondrocyte proliferation; and positive regulation of osteoblast differentiation. Predicted to be located in extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in prostate (RPKM 8.1), urinary bladder (RPKM 7.3) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCUBE2 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (9019476..9091599, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (9103686..9176371, complement)
    RS_2024_09 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 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9000257-9001066 Neighboring gene nuclear receptor interacting protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9024725-9025644 Neighboring gene NRIP3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9068585-9069086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9087649-9088150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9088151-9088650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9116861-9117362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:9117363-9117862 Neighboring gene microRNA 5691 Neighboring gene keratin 8 pseudogene 41 Neighboring gene uncharacterized LOC105376542 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:9142475-9143138

    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

    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
     
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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/TrEMBL
      Q6ZMN9
      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
      Q2NKQ8, Q6ZWI1, Q9NQ36
      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: GCF_000001405.40-RS_2024_08

    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

      UniProtKB/TrEMBL
      Q6ZMN9
    17. XM_017018082.3XP_016873571.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X21

      UniProtKB/TrEMBL
      Q6ZMN9
    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

      UniProtKB/TrEMBL
      Q6ZMN9
    20. XM_047427368.1XP_047283324.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X24

      UniProtKB/TrEMBL
      Q6ZMN9
    21. XM_047427366.1XP_047283322.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X22

      UniProtKB/TrEMBL
      Q6ZMN9
    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)

    mRNA and Protein(s)

    1. XM_054369548.1XP_054225523.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X19

    2. XM_054369549.1XP_054225524.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X20

    3. XM_054369539.1XP_054225514.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X10

    4. XM_054369544.1XP_054225519.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X15

    5. XM_054369533.1XP_054225508.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X4

    6. XM_054369538.1XP_054225513.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X9

    7. XM_054369530.1XP_054225505.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X1

    8. XM_054369552.1XP_054225527.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X23

    9. XM_054369547.1XP_054225522.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X18

    10. XM_054369541.1XP_054225516.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X12

    11. XM_054369543.1XP_054225518.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X14

    12. XM_054369532.1XP_054225507.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X3

    13. XM_054369535.1XP_054225510.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X6

    14. XM_054369536.1XP_054225511.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X7

    15. XM_054369531.1XP_054225506.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X2

    16. XM_054369555.1XP_054225530.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X26

      UniProtKB/TrEMBL
      Q6ZMN9
    17. XM_054369554.1XP_054225529.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X25

      UniProtKB/TrEMBL
      Q6ZMN9
    18. XM_054369551.1XP_054225526.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X22

      UniProtKB/TrEMBL
      Q6ZMN9
    19. XM_054369545.1XP_054225520.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X16

    20. XM_054369542.1XP_054225517.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X13

    21. XM_054369540.1XP_054225515.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X11

    22. XM_054369553.1XP_054225528.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X24

      UniProtKB/TrEMBL
      Q6ZMN9
    23. XM_054369550.1XP_054225525.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X21

      UniProtKB/TrEMBL
      Q6ZMN9
    24. XM_054369546.1XP_054225521.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X17

    25. XM_054369537.1XP_054225512.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X8

    26. XM_054369534.1XP_054225509.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X5

    27. XM_054369557.1XP_054225532.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X28

    28. XM_054369558.1XP_054225533.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X29

    29. XM_054369556.1XP_054225531.1  signal peptide, CUB and EGF-like domain-containing protein 2 isoform X27