Endometriosis Knowledgebase

Search Result

Gene id

64094

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SMOC2 Gene UCSC Ensembl

Aliases

DTDP1, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1, dJ421D16.1

Gene name

SPARC related modular calcium binding 2

Alternate names

SPARC-related modular calcium-binding protein 2, SMAP-2, SMOC-2, secreted modular calcium-binding protein 2, smooth muscle associated protein 2, thyroglobulin type-1 repeat containing protein,

Gene location

6q27 (168441150: 168667993) Exons: 14 NC_000006.12

Gene summary(Entrez)

This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

OMIM

607223

Protein Summary

Protein general information

Q9H3U7

Name: SPARC-related modular calcium-binding protein 2 (Secreted modular calcium-binding protein 2) (SMOC-2) (Smooth muscle-associated protein 2) (SMAP-2)

Length: 446 Mass: 49,674

Sequence

MLLPQLCWLPLLAGLLPPVPAQKFSALTFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQ
LEIAYRGNCKDVSRCVAERKYTQEQARKEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKT
PRCPGSVNEKLPQREGTGKTDDAAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNKTNKNSVSSCDQEHQSALE
EAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDTGRPIPGTSTRYEQPKCDNTARAHPAKARDLYKGRQ
LQGCPGAKKHEFLTSVLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVVHWYFKLLDKNSSGDIGKKEIKPF
KRFLRKKSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDGKADTKKRHTPRGHAESTSNRQPRKQG

Structural information

Protein Domains	Kazal-like. (34-86) Thyroglobulin (87-153) Thyroglobulin (213-281) EF-hand (347-382) EF-hand (384-419)
Interpro:	IPR011992 IPR018247 IPR002048 IPR002350 IPR036058 IPR037640 IPR019577 IPR000716 IPR036857
Prosite:	PS00018 PS50222 PS51465 PS00484 PS51162
Pfam:	PF07648 PF10591 PF00086
CDD:	cd16241 cd00191
STRING:	ENSP00000346537;

Other Databases

GeneCards: SMOC2; Malacards: SMOC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005604	basement membrane	IEA	cellular_component
GO:0005614	interstitial matrix	IEA	cellular_component
GO:0007165	signal transduction	IEA	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0010811	positive regulation of ce ll-substrate adhesion	IEA	biological_process
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005539	glycosaminoglycan binding	IEA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005614	interstitial matrix	IEA	cellular_component
GO:0007165	signal transduction	IEA	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0010811	positive regulation of ce ll-substrate adhesion	IEA	biological_process
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function

Diseases

Associated diseases	References
Endometriosis	INFBASE28678915
Dentin dysplasia, type I, with microdontia and misshapen teeth	OMIM607223

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28678915	Endometrio sis			36 (10 from end ometrial and pe ritoneal endome triotic lesions , 10 from endom etrial and ovar ian endometriot ic lesions, 16 endometrium sam ples were colle cted from women without endome triosis)			Show abstract