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FLASH GENE

Symbol

SEMA3E

contributors: mct/npt - updated : 07-06-2018

HGNC name	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
HGNC id	10727

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	285.10 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012431 17 - 6474 NP_036563 - 775 - 2017 27913633 NM_001178129 17 - 5993 NP_001171600 - 715 - 2017 27913633

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Nervous brain         Respiratory respiratory tract trachea     highly Visual eye anterior segment iris       eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual ganglion cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye, cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SEMA domain
	one immunoglobulin like C2 type domain

conjugated

GlycoP

mono polymer

aggregate

HOMOLOGY

interspecies	homolog to murine semaphorin H
	homolog to C.elegans Y54E5B.1

Homologene

FAMILY

semaphorin/collapsin family

CATEGORY

secretory , protooncogene

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	may be involved in development
	can function as potent anti-tumorigenic agents (but is required expression of appropriate semaphorin receptors by tumor cells) (Kigel 2008)
	novel role of SEMA3E-PLXND1 function in modulating angiogenesis via a VEGFA-induced feedback mechanism (pMID: 21724832)
	acts as a negative regulator of macrophage migration, which may promote macrophage retention and chronic inflammation
	SEMA3E, SEMA3D direct endothelial motility through distinct molecular signaling pathways
	SEMA3E controls cell migration and invasiveness in cancer cells
	SEMA3E could be considered an essential regulatory mediator involved in modulation of neutrophil migration throughout the course of neutrophilic inflammation

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

SEMA3E-PLXND1 signaling is involved in the development of choroidal neovascularization (CNV)

a component

INTERACTION

DNA

RNA

small molecule

protein	ligand of PLXND1 (interacting during the formation of proprioceptive sensory–motor reflex circuits) (Pecho-Vrieseling 2009)
	IQSEC1 mediates SEMA3E-induced ARF6 activation in endothelial cells
	SEMA3E acts as a chemoattractant for macrophages, with TP53-induced upregulation of SEMA3E expression provoking adipose tissue inflammation and systemic insulin resistance in association with dietary obesity
	SH3BP1 mediates SEMA3E-induced cell collapse through interaction with PLXND1 and regulation RAC1 activity
	SEMA3E is an essential gene for GNRH1 neuron development
	SEMA3E/PLXND1 modulates Immunological synapse (IS) formation and Ag-scanning activities of thymocytes within thymic tissues
	RORA is a novel transcriptional regulator of SEMA3E-mediated neurovascular coupling in pathological retinal angiogenesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHARGE2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   expression inversely correlated with tumor progression, with no detectable staining in melanoma metastasis (Roodink 2008) tumoral     --over   in human pancreatic cancer, and that high SEMA3E levels are associated with tumor progression and poor survival

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may be a suitable prognostic marker for pancreatic cancer
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas therapeutic target for pancreatic cancer

ANIMAL & CELL MODELS