SCUBE3 - signal peptide, CUB domain and EGF like domain containing 3 Gene

Homo sapiens

Also known as CEGF3; SSFSC2

Gene ID: 222663 | Gene type: protein coding

About SCUBE3

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,213,956-35,253,079 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in thyroid (RPKM 18.5), adrenal (RPKM 1.4) and 2 other tissues.

Summary

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung Cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by Cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCUBE3 Products(2)

mRNA	Protein	Name
NM_001303136.2	NP_001290065.1	signal peptide, CUB and EGF-like domain-containing protein 3 isoform 2 precursor
NM_152753.4	NP_689966.2	signal peptide, CUB and EGF-like domain-containing protein 3 isoform 1 precursor

SCUBE3 Protein Structure

EGF_3

cEGF

FXa_inhibition

EGF_CA

Ephrin_rec_like

CUB

0
200
400
600
800
993 a.a.

Protein Preferred Names

Protein Names

signal peptide, CUB and EGF-like domain-containing protein 3

CUB domain and EGF-like repeat containing 3

Related Diseases

Diseases

Alias

Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2

Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies	SSFSC2
Ssfsc	Doid:0112358

Spinocerebellar Ataxia 44

SCA44

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Cataract 37

CTRCT37	Cca5
Cataract, Congenital, Cerulean Type, 5	Cataract 37, Autosomal Dominant
Congenital Cataract Cerulean Type 5

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12573	SCUBE3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SCUBE3	VGNC	VGNC:45937
Macaca mulatta	SCUBE3	VGNC	VGNC:77012
Rattus norvegicus	SCUBE3	RGD	RGD:1304880
Bos taurus	SCUBE3	VGNC	VGNC:34373
Felis catus	SCUBE3	VGNC	VGNC:64939
Mus musculus	SCUBE3	MGD	MGI:3045253

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