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Gene id

10512

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SEMA3C Gene UCSC Ensembl

Aliases

SEMAE, SemE

Gene name

semaphorin 3C

Alternate names

semaphorin-3C, sema E, sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C, semaphorin E,

Gene location

7q21.11 (80922378: 80742535) Exons: 20 NC_000007.14

Gene summary(Entrez)

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]

OMIM

602645

Protein Summary

Protein general information

Q99985

Name: Semaphorin-3C (Semaphorin-E) (Sema E)

Length: 751 Mass: 85,207

Tissue specificity: Expressed intensely in the heart, skeletal muscle, colon, small intestine, ovary, testis, and prostate. Faint expression ubiquitously among other organs, including brain.

Sequence

MAFRTICVLVGVFICSICVKGSSQPQARVYLTFDELRETKTSEYFSLSHHPLDYRILLMDEDQDRIYVGSKDHIL
SLNINNISQEALSVFWPASTIKVEECKMAGKDPTHGCGNFVRVIQTFNRTHLYVCGSGAFSPVCTYLNRGRRSED
QVFMIDSKCESGKGRCSFNPNVNTVSVMINEELFSGMYIDFMGTDAAIFRSLTKRNAVRTDQHNSKWLSEPMFVD
AHVIPDGTDPNDAKVYFFFKEKLTDNNRSTKQIHSMIARICPNDTGGLRSLVNKWTTFLKARLVCSVTDEDGPET
HFDELEDVFLLETDNPRTTLVYGIFTTSSSVFKGSAVCVYHLSDIQTVFNGPFAHKEGPNHQLISYQGRIPYPRP
GTCPGGAFTPNMRTTKEFPDDVVTFIRNHPLMYNSIYPIHKRPLIVRIGTDYKYTKIAVDRVNAADGRYHVLFLG
TDRGTVQKVVVLPTNNSVSGELILEELEVFKNHAPITTMKISSKKQQLYVSSNEGVSQVSLHRCHIYGTACADCC
LARDPYCAWDGHSCSRFYPTGKRRSRRQDVRHGNPLTQCRGFNLKAYRNAAEIVQYGVKNNTTFLECAPKSPQAS
IKWLLQKDKDRRKEVKLNERIIATSQGLLIRSVQGSDQGLYHCIATENSFKQTIAKINFKVLDSEMVAVVTDKWS
PWTWASSVRALPFHPKDIMGAFSHSEMQMINQYCKDTRQQHQQGDESQKMRGDYGKLKALINSRKSRNRRNQLPE
S

Structural information

Protein Domains	Sema. (28-511) Ig-like (571-655)
Interpro:	IPR007110 IPR036179 IPR013783 IPR013098 IPR003599 IPR016201 IPR001627 IPR036352 IPR027231 IPR015943
Prosite:	PS50835 PS51004
Pfam:	PF07679 PF01403
STRING:	ENSP00000265361;

Other Databases

GeneCards: SEMA3C; Malacards: SEMA3C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001755	neural crest cell migrati on	IBA	biological_process
GO:0001756	somitogenesis	IEA	biological_process
GO:0001974	blood vessel remodeling	IEA	biological_process
GO:0003151	outflow tract morphogenes is	IEA	biological_process
GO:0003215	cardiac right ventricle m orphogenesis	IEA	biological_process
GO:0003350	pulmonary myocardium deve lopment	IEA	biological_process
GO:0005615	extracellular space	IBA	cellular_component
GO:0006955	immune response	TAS	biological_process
GO:0007411	axon guidance	ISS	biological_process
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0021915	neural tube development	IEA	biological_process
GO:0030215	semaphorin receptor bindi ng	IBA	molecular_function
GO:0030335	positive regulation of ce ll migration	IBA	biological_process
GO:0038191	neuropilin binding	IBA	molecular_function
GO:0042493	response to drug	TAS	biological_process
GO:0045499	chemorepellent activity	IBA	molecular_function
GO:0048843	negative regulation of ax on extension involved in axon guidance	IBA	biological_process
GO:0050919	negative chemotaxis	IBA	biological_process
GO:0060174	limb bud formation	IEA	biological_process
GO:0060666	dichotomous subdivision o f terminal units involved in salivary gland branch ing	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071526	semaphorin-plexin signali ng pathway	IBA	biological_process
GO:0001755	neural crest cell migrati on	IEA	biological_process
GO:0001755	neural crest cell migrati on	IBA	biological_process
GO:0001756	somitogenesis	IEA	biological_process
GO:0001974	blood vessel remodeling	IEA	biological_process
GO:0003151	outflow tract morphogenes is	IEA	biological_process
GO:0003215	cardiac right ventricle m orphogenesis	IEA	biological_process
GO:0003350	pulmonary myocardium deve lopment	IEA	biological_process
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0006955	immune response	TAS	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007411	axon guidance	ISS	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0021915	neural tube development	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030215	semaphorin receptor bindi ng	IEA	molecular_function
GO:0030215	semaphorin receptor bindi ng	IBA	molecular_function
GO:0030335	positive regulation of ce ll migration	IBA	biological_process
GO:0038191	neuropilin binding	IBA	molecular_function
GO:0042493	response to drug	TAS	biological_process
GO:0045499	chemorepellent activity	IBA	molecular_function
GO:0048843	negative regulation of ax on extension involved in axon guidance	IBA	biological_process
GO:0050919	negative chemotaxis	IBA	biological_process
GO:0060174	limb bud formation	IEA	biological_process
GO:0060666	dichotomous subdivision o f terminal units involved in salivary gland branch ing	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071526	semaphorin-plexin signali ng pathway	IBA	biological_process
GO:0001755	neural crest cell migrati on	IBA	biological_process
GO:0005615	extracellular space	IBA	cellular_component
GO:0006955	immune response	TAS	biological_process
GO:0007411	axon guidance	ISS	biological_process
GO:0030215	semaphorin receptor bindi ng	IBA	molecular_function
GO:0030335	positive regulation of ce ll migration	IBA	biological_process
GO:0038191	neuropilin binding	IBA	molecular_function
GO:0042493	response to drug	TAS	biological_process
GO:0045499	chemorepellent activity	IBA	molecular_function
GO:0048843	negative regulation of ax on extension involved in axon guidance	IBA	biological_process
GO:0050919	negative chemotaxis	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071526	semaphorin-plexin signali ng pathway	IBA	biological_process

KEGG pathways

hsa04360 Axon guidance

Diseases

Associated diseases	References
Female infertility	INFBASE12810542
Implantation defects	INFBASE12810542
Endometriosis	INFBASE12810542

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
12810542	Endometrio sis					IL-15 proline-rich protein B61 Dickkopf-1 glycodelin N-acetylglucosamine-6-O-sulfotransferase G0S2 protein purine nucleoside phosphorylase semaphorin E neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA Sam68-like phospho	Show abstract