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

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, Oct 2024]
Expression: Broad expression in prostate (RPKM 8.1), urinary bladder (RPKM 7.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SCUBE2 mediates bone metastasis of luminal breast cancer by modulating immune-suppressive osteoblastic niches.
Title: SCUBE2 mediates bone metastasis of luminal breast cancer by modulating immune-suppressive osteoblastic niches.
Knockdown of circ_0025908 inhibits proliferation, migration, invasion, and inflammation while stimulates apoptosis in fibroblast-like synoviocytes by regulating miR-650-dependent SCUBE2.
Title: Knockdown of circ_0025908 inhibits proliferation, migration, invasion, and inflammation while stimulates apoptosis in fibroblast-like synoviocytes by regulating miR-650-dependent SCUBE2.
Expression of SCUBE2 and BCL2 Predicts Favorable Response in ERalpha Positive Breast Cancer.
Title: Expression of SCUBE2 and BCL2 Predicts Favorable Response in ERα Positive Breast Cancer.
Knockdown of long non-coding RNA PVT1 induces apoptosis of fibroblast-like synoviocytes through modulating miR-543-dependent SCUBE2 in rheumatoid arthritis.
Title: Knockdown of long non-coding RNA PVT1 induces apoptosis of fibroblast-like synoviocytes through modulating miR-543-dependent SCUBE2 in rheumatoid arthritis.
The relationship of serum SCUBE-1, -2 and -3 levels with clinical findings and ultrasonographic skin thickness in systemic sclerosis patients.
Title: The relationship of serum SCUBE-1, -2 and -3 levels with clinical findings and ultrasonographic skin thickness in systemic sclerosis patients.
High SCUBE2 expression is associated with dyslipidemic type 2 diabetes mellitus.
Title: Upregulation of SCUBE2 expression in dyslipidemic type 2 diabetes mellitus is associated with endothelin-1.
this study reported for the first time that SCUBE2 methylation can be reversed by (-)-epigallocatechin-3-gallate treatment, finally resulting in the inhibition of breast cancer progression.
Title: The Inhibitory Effect of (-)-Epigallocatechin-3-Gallate on Breast Cancer Progression via Reducing SCUBE2 Methylation and DNMT Activity.
that SCUBE2 expression is upregulated in breast cancer stem cells, promote EMT and enhance TNBC metastasis by activating Notch signaling
Title: Upregulated SCUBE2 expression in breast cancer stem cells enhances triple negative breast cancer aggression through modulation of notch signaling and epithelial-to-mesenchymal transition.
Overexpression of SCUBE2 inhibits non-small cell lung cancer cell proliferation and invasion through suppressing the Sonic hedgehog signaling pathway.
Title: SCUBE2 inhibits the proliferation, migration and invasion of human non-small cell lung cancer cells through regulation of the sonic hedgehog signaling pathway.
Results confirm that heparan sulfate (HS) proteoglycans enrich Scube2 at the surface of Shh-producing cells and that Scube2-regulated proteolytic Shh processing and release depends on specific HS.
Title: Bridging the gap: heparan sulfate and Scube2 assemble Sonic hedgehog release complexes at the surface of producing cells.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71184 (e-PCR)
- UniSTS:44802

D11S4188 (e-PCR)
- UniSTS:60419

SHGC-148899 (e-PCR)
- UniSTS:176672

G59675 (e-PCR)
- UniSTS:136829

SCUBE2_2595 (e-PCR)
- UniSTS:280984

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

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

RH45205 (e-PCR)
- UniSTS:64707

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

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

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_001170690.3 → NP_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:631 → 678

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
NM_001330199.3 → NP_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:809 → 920

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

pfam07699
Location:757 → 804

Ephrin_rec_like; Putative ephrin-receptor like

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
NM_001367977.2 → NP_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
NM_020974.4 → NP_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:781 → 892

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

pfam07699
Location:729 → 776

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

9019476..9091599 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427364.1 → XP_047283320.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X19
XM_047427365.1 → XP_047283321.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X20
XM_005253036.5 → XP_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:729 → 840

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

pfam07699
Location:677 → 724

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:286 → 321

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
XM_017018081.2 → XP_016873570.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X15
XM_017018080.2 → XP_016873569.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X4

Conserved Domains (4) summary

smart00179
Location:86 → 126

EGF_CA; Calcium-binding EGF-like domain

cd00041
Location:768 → 879

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

pfam07645
Location:45 → 78

EGF_CA; Calcium-binding EGF domain

cl00057
Location:312 → 361

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 ...
XM_047427356.1 → XP_047283312.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X9
XM_005253034.5 → XP_005253091.2 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X1

Conserved Domains (5) summary

cd00041
Location:797 → 908

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

pfam07699
Location:745 → 792

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:286 → 321

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
XM_047427367.1 → XP_047283323.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X23
XM_005253037.5 → XP_005253094.2 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X18

Conserved Domains (5) summary

cd00041
Location:683 → 794

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

pfam07699
Location:631 → 678

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
XM_047427359.1 → XP_047283315.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X12
XM_047427361.1 → XP_047283317.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X14
XM_011520247.3 → XP_011518549.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X3

Conserved Domains (5) summary

cd00041
Location:770 → 881

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

pfam07699
Location:718 → 765

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
XM_047427353.1 → XP_047283309.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X6
XM_047427354.1 → XP_047283310.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X7
XM_011520246.3 → XP_011518548.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X2

Conserved Domains (4) summary

pfam07699
Location:786 → 833

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
XM_047427369.1 → XP_047283325.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X25
XM_017018082.3 → XP_016873571.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X21

UniProtKB/TrEMBL

Q6ZMN9
XM_047427358.1 → XP_047283314.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X11
XM_047427370.1 → XP_047283326.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X26
XM_047427368.1 → XP_047283324.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X24
XM_047427366.1 → XP_047283322.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X22
XM_047427363.1 → XP_047283319.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X17
XM_047427355.1 → XP_047283311.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X8
XM_047427360.1 → XP_047283316.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X13
XM_047427362.1 → XP_047283318.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X16
XM_005253035.5 → XP_005253092.2 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X5

Conserved Domains (5) summary

cd00041
Location:838 → 949

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

pfam07699
Location:786 → 833

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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 ...
XM_047427371.1 → XP_047283327.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X28
XM_047427372.1 → XP_047283328.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X29
XM_011520248.3 → XP_011518550.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X27

Conserved Domains (3) summary

pfam12947
Location:49 → 84

EGF_3; EGF domain

pfam14670
Location:407 → 442

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:312 → 361

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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

9103686..9176371 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369548.1 → XP_054225523.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X19
XM_054369549.1 → XP_054225524.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X20
XM_054369539.1 → XP_054225514.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X10
XM_054369544.1 → XP_054225519.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X15
XM_054369533.1 → XP_054225508.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X4
XM_054369538.1 → XP_054225513.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X9
XM_054369530.1 → XP_054225505.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X1
XM_054369552.1 → XP_054225527.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X23
XM_054369547.1 → XP_054225522.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X18
XM_054369541.1 → XP_054225516.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X12
XM_054369543.1 → XP_054225518.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X14
XM_054369532.1 → XP_054225507.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X3
XM_054369535.1 → XP_054225510.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X6
XM_054369536.1 → XP_054225511.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X7
XM_054369531.1 → XP_054225506.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X2
XM_054369555.1 → XP_054225530.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X26
XM_054369554.1 → XP_054225529.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X25
XM_054369551.1 → XP_054225526.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X22
XM_054369545.1 → XP_054225520.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X16
XM_054369542.1 → XP_054225517.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X13
XM_054369540.1 → XP_054225515.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X11
XM_054369553.1 → XP_054225528.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X24
XM_054369550.1 → XP_054225525.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X21
XM_054369546.1 → XP_054225521.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X17
XM_054369537.1 → XP_054225512.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X8
XM_054369534.1 → XP_054225509.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X5
XM_054369557.1 → XP_054225532.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X28
XM_054369558.1 → XP_054225533.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X29
XM_054369556.1 → XP_054225531.1 signal peptide, CUB and EGF-like domain-containing protein 2 isoform X27