Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	222663
Gene name	Signal peptide, CUB domain and EGF like domain containing 3
Gene symbol	SCUBE3
Synonyms (NCBI Gene)	CEGF3SSFSC2
Chromosome	6
Chromosome location	6p21.31
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 i

162

Show/Hide all (162)

miRTarBase ID	miRNA	Experiments	Reference
MIRT695803	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT695802	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT695801	hsa-miR-3940-3p	HITS-CLIP	23313552
MIRT695800	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT695799	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT695798	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT678686	hsa-miR-4499	HITS-CLIP	23824327
MIRT678685	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT678684	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT678683	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT678682	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT678681	hsa-miR-3197	HITS-CLIP	23824327
MIRT678680	hsa-miR-6087	HITS-CLIP	23824327
MIRT678679	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT678678	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT678677	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT678676	hsa-miR-4284	HITS-CLIP	23824327
MIRT678675	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT678674	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT678673	hsa-miR-6731-5p	HITS-CLIP	23824327
MIRT678672	hsa-miR-8085	HITS-CLIP	23824327
MIRT678671	hsa-miR-7977	HITS-CLIP	23824327
MIRT678670	hsa-miR-6765-5p	HITS-CLIP	23824327
MIRT678669	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT678668	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT678667	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT678666	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT678665	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT678664	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT678663	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT678662	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678661	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678660	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678659	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT678658	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT678657	hsa-miR-3122	HITS-CLIP	23824327
MIRT678656	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT678655	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT678654	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT678653	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT641435	hsa-miR-1470	HITS-CLIP	23824327
MIRT641434	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT641433	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT641432	hsa-miR-3145-3p	HITS-CLIP	23824327
MIRT641431	hsa-miR-3689a-5p	HITS-CLIP	23824327
MIRT641430	hsa-miR-3689b-5p	HITS-CLIP	23824327
MIRT641429	hsa-miR-3689e	HITS-CLIP	23824327
MIRT641428	hsa-miR-3689f	HITS-CLIP	23824327
MIRT641427	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT641426	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT641425	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT641424	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT513322	hsa-miR-6816-3p	PAR-CLIP	23446348
MIRT513321	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT513320	hsa-miR-4457	PAR-CLIP	23446348
MIRT513319	hsa-miR-591	PAR-CLIP	23446348
MIRT513318	hsa-miR-3619-3p	PAR-CLIP	23446348
MIRT513317	hsa-miR-4670-5p	PAR-CLIP	23446348
MIRT695803	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT695802	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT695801	hsa-miR-3940-3p	HITS-CLIP	23313552
MIRT695800	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT695799	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT695798	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT678686	hsa-miR-4499	HITS-CLIP	23824327
MIRT678685	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT678684	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT678683	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT678682	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT678681	hsa-miR-3197	HITS-CLIP	23824327
MIRT678680	hsa-miR-6087	HITS-CLIP	23824327
MIRT678679	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT678678	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT678677	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT678676	hsa-miR-4284	HITS-CLIP	23824327
MIRT678675	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT678674	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT678673	hsa-miR-6731-5p	HITS-CLIP	23824327
MIRT678672	hsa-miR-8085	HITS-CLIP	23824327
MIRT678671	hsa-miR-7977	HITS-CLIP	23824327
MIRT678670	hsa-miR-6765-5p	HITS-CLIP	23824327
MIRT678669	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT678668	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT678667	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT678666	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT678665	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT678664	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT678663	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT678662	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678661	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678660	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678659	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT678658	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT678657	hsa-miR-3122	HITS-CLIP	23824327
MIRT678656	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT678655	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT678654	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT678653	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT641435	hsa-miR-1470	HITS-CLIP	23824327
MIRT641434	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT641433	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT641432	hsa-miR-3145-3p	HITS-CLIP	23824327
MIRT641431	hsa-miR-3689a-5p	HITS-CLIP	23824327
MIRT641430	hsa-miR-3689b-5p	HITS-CLIP	23824327
MIRT641429	hsa-miR-3689e	HITS-CLIP	23824327
MIRT641428	hsa-miR-3689f	HITS-CLIP	23824327
MIRT641427	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT641426	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT641425	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT641424	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT513322	hsa-miR-6816-3p	PAR-CLIP	23446348
MIRT513321	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT513320	hsa-miR-4457	PAR-CLIP	23446348
MIRT513319	hsa-miR-591	PAR-CLIP	23446348
MIRT513318	hsa-miR-3619-3p	PAR-CLIP	23446348
MIRT513317	hsa-miR-4670-5p	PAR-CLIP	23446348
MIRT1330968	hsa-miR-124	CLIP-seq
MIRT1330969	hsa-miR-1271	CLIP-seq
MIRT1330970	hsa-miR-129-5p	CLIP-seq
MIRT1330971	hsa-miR-182	CLIP-seq
MIRT1330972	hsa-miR-4273	CLIP-seq
MIRT1330973	hsa-miR-451b	CLIP-seq
MIRT1330974	hsa-miR-4677-5p	CLIP-seq
MIRT1330975	hsa-miR-4708-3p	CLIP-seq
MIRT1330976	hsa-miR-506	CLIP-seq
MIRT1330977	hsa-miR-617	CLIP-seq
MIRT1330978	hsa-miR-96	CLIP-seq
MIRT1553261	hsa-miR-4703-3p	CLIP-seq
MIRT2097890	hsa-miR-1827	CLIP-seq
MIRT2097891	hsa-miR-3909	CLIP-seq
MIRT2097892	hsa-miR-4514	CLIP-seq
MIRT2097893	hsa-miR-4692	CLIP-seq
MIRT2097894	hsa-miR-4757-5p	CLIP-seq
MIRT2097895	hsa-miR-940	CLIP-seq
MIRT2322393	hsa-miR-3616-5p	CLIP-seq
MIRT2322394	hsa-miR-3647-5p	CLIP-seq
MIRT2322395	hsa-miR-4635	CLIP-seq
MIRT2322396	hsa-miR-573	CLIP-seq
MIRT2394112	hsa-miR-3173-3p	CLIP-seq
MIRT2394113	hsa-miR-4293	CLIP-seq
MIRT2394114	hsa-miR-4294	CLIP-seq
MIRT2394115	hsa-miR-4428	CLIP-seq
MIRT2394116	hsa-miR-4488	CLIP-seq
MIRT2394117	hsa-miR-4521	CLIP-seq
MIRT2394118	hsa-miR-4667-5p	CLIP-seq
MIRT2394119	hsa-miR-4697-5p	CLIP-seq
MIRT2394120	hsa-miR-4700-5p	CLIP-seq
MIRT2394121	hsa-miR-637	CLIP-seq
MIRT2440054	hsa-miR-1245b-3p	CLIP-seq
MIRT2440055	hsa-miR-338-3p	CLIP-seq
MIRT2440056	hsa-miR-383	CLIP-seq
MIRT2440057	hsa-miR-4530	CLIP-seq
MIRT2440058	hsa-miR-4761-5p	CLIP-seq
MIRT2440059	hsa-miR-766	CLIP-seq
MIRT2618656	hsa-miR-3125	CLIP-seq
MIRT2618657	hsa-miR-3185	CLIP-seq
MIRT2618658	hsa-miR-3916	CLIP-seq
MIRT2618659	hsa-miR-877	CLIP-seq
MIRT2618656	hsa-miR-3125	CLIP-seq
MIRT2618657	hsa-miR-3185	CLIP-seq
MIRT2618658	hsa-miR-3916	CLIP-seq
MIRT2618659	hsa-miR-877	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15234972, 21441952
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IBA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	15234972, 33308444
GO:0009986	Component	Cell surface	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IMP	33308444
GO:0036122	Function	BMP binding	IPI	33308444
GO:0042802	Function	Identical protein binding	IPI	15234972
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	33308444
GO:0070700	Function	BMP receptor binding	IPI	33308444

MIM	HGNC	e!Ensembl
614708	13655	ENSG00000146197

Q8IX30

Protein name

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

Protein function

Is a positive regulator of the BMP signaling pathway, required for proper chondrogenesis, osteogenesis and skeletal development. It acts as a coreceptor for BMP ligands, particularly BMP2 and BMP4, facilitating their interactions with BMP type I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12947	EGF_3	33 → 68	EGF domain	Domain
PF12662	cEGF	92 → 115	Complement Clr-like EGF-like	Domain
PF12662	cEGF	257 → 280	Complement Clr-like EGF-like	Domain
PF14670	FXa_inhibition	281 → 316		Domain
PF07645	EGF_CA	357 → 404	Calcium-binding EGF domain	Domain
PF07699	Ephrin_rec_like	642 → 689	Putative ephrin-receptor like	Family
PF07699	Ephrin_rec_like	696 → 743	Putative ephrin-receptor like	Family
PF07699	Ephrin_rec_like	752 → 799	Putative ephrin-receptor like	Family
PF00431	CUB	804 → 913	CUB domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in osteoblasts. In normal lung, mainly expressed in bronchial epithelial cells. Tends to be up-regulated in lung cancer cells. {ECO:0000269|PubMed:15234972, ECO:0000269|PubMed:21441952}.

Sequence

MGSGRVPGLCLLVLLVHARAAQYSKAAQDVDECVEGTDNCHIDAICQNTPRSYKCICKSG
YTGDGKHCKDVDECEREDNAGCVHDCVNIPGNYRCTCYDGFHLAHDGHNCLDVDECAEGN
GGCQQSCVNMMGSYECHCREGFFLSDNQHTCIQRPEEGMNCMNKNHGCAHICRETPKGGI
ACECRPGFELTKNQRDCKLTCNYGNGGCQHTCDDTEQGPRCGCHIKFVLHTDGKTCIETC
AVNNGGCDSKCHDAATGVHCTCPVGFMLQPDRKTCKDIDECRLNNGGCDHICRNTVGSFE
CSCKKGYKLLINERNCQDIDECSFDRTCDHICVNTPGSFQCLCHRGYLLYGITHCGDVDE
CSINRGGCRFGCINTPGSYQCTCPAGQGRLHWNGKDCTEPLKCQGSPGASKAMLSCNRSG
KKDTCALTCPSRARFLPESENGFTVSCGTPSPRAAPARAGHNGNSTNSNHCHEAAVLSIK
QRASFKIKDAKCRLHLRNKGKTEEAGRITGPGGAPCSECQVTFIHLKCDSSRKGKGRRAR
TPPGKEVTRLTLELEAEVRAEETTASCGLPCLRQRMERRLKGSLKMLRKSINQDRFLLRL
AGLDYELAHKPGLVAGERAEPMESCRPGQHRAGTKCVSCPQGTYYHGQTEQCVPCPAGTF
QEREGQLSCDLCPGSDAHGPLGATNVTTCAGQCPPGQHSVDGFKPCQPCPRGTYQPEAGR
TLCFPCGGGLTTKHEGAISFQDCDTKVQCSPGHYYNTSIHRCIRCAMGSYQPDFRQNFCS
RCPGNTSTDFDGSTSVAQCKNRQCGGELGEFTGYIESPNYPGNYPAGVECIWNINPPPKR
KILIVVPEIFLPSEDECGDVLVMRKNSSPSSITTYETCQTYERPIAFTARSRKLWINFKT
SEANSARGFQIPYVTYDEDYEQLVEDIVRDGRLYASENHQEILKDKKLIKAFFEVLAHPQ
NYFKYTEKHKEMLPKSFIKLLRSKVSSFLRPYK

Sequence length

993

Interactions

View interactions

	Reactome
			Degradation of the extracellular matrix

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Pathogenic; Likely pathogenic	rs1783419625, rs1783620400, rs1784221557, rs751478115, rs1784291936, rs1397172310	RCV001328523 RCV001328524 RCV001328527 RCV001328528 RCV001328529 RCV001328530
Abnormality of the dentition	Pathogenic; Likely pathogenic	rs1783419625, rs1783620400, rs1784221557, rs751478115, rs1784291936, rs1397172310	RCV001328523 RCV001328524 RCV001328527 RCV001328528 RCV001328529 RCV001328530
Abnormality of the skeletal system	Pathogenic; Likely pathogenic	rs1783419625, rs1783620400, rs1784221557, rs751478115, rs1784291936, rs1397172310	RCV001328523 RCV001328524 RCV001328527 RCV001328528 RCV001328529 RCV001328530
Short stature	Pathogenic; Likely pathogenic	rs1783419625, rs1783620400, rs1784221557, rs751478115, rs1784291936, rs1397172310	RCV001328523 RCV001328524 RCV001328527 RCV001328528 RCV001328529 RCV001328530
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	Pathogenic; Likely pathogenic	rs1783419625, rs1784221557, rs751478115, rs1397172310	RCV001291536 RCV001291538 RCV001291535 RCV001788436

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Prostate cancer	Uncertain significance	rs193920941	RCV000149353

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Calcinosis Cutis	Associate	35088579
Carcinoma Non Small Cell Lung	Associate	24390364
Crohn Disease	Associate	24084050
Developmental Dysplasia of the Hip	Associate	33522290
Granulosa cell tumor of the ovary	Associate	36138226
Lung Neoplasms	Associate	24390364
Lupus Erythematosus Systemic	Inhibit	33274247
Lupus Erythematosus Systemic	Associate	33274247
Lymphatic Metastasis	Stimulate	24390364
Melanoma	Associate	35088579
Neoplasm Metastasis	Associate	24390364, 35088579
Neoplasms	Associate	36155774
Osteosarcoma	Inhibit	32912111
Sarcoma	Associate	36155774
Tertiary Lymphoid Structures	Stimulate	24390364

SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3)