SEMA3E semaphorin 3E [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEMA3Eprovided by HGNC
Official Full Name: semaphorin 3Eprovided by HGNC
Primary source: HGNC:HGNC:10727
See related: Ensembl:ENSG00000170381 MIM:608166; AllianceGenome:HGNC:10727
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SEMAH; coll-5; M-SEMAH; M-SemaK
Summary: Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Expression: Biased expression in brain (RPKM 3.1), gall bladder (RPKM 2.2) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.11

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (83363238..83649139, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (84614452..84899593, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (82992554..83278455, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Combination of Natural Molecules Naringenin, Hesperetin, Curcumin, Polydatin and Quercetin Synergistically Decreases SEMA3E Expression Levels and DPPIV Activity in In Vitro Models of Insulin Resistance.
Title: The Combination of Natural Molecules Naringenin, Hesperetin, Curcumin, Polydatin and Quercetin Synergistically Decreases SEMA3E Expression Levels and DPPIV Activity in In Vitro Models of Insulin Resistance.
PLXND1/SEMA3E Promotes Epithelial-Mesenchymal Transition Partly via the PI3K/AKT-Signaling Pathway and Induces Heterogenity in Colorectal Cancer.
Title: PLXND1/SEMA3E Promotes Epithelial-Mesenchymal Transition Partly via the PI3K/AKT-Signaling Pathway and Induces Heterogenity in Colorectal Cancer.
The SEMA3E is reduced in colitis and modulates colonic inflammation by regulating the interaction between CD11c(+) and CD4(+) CD25(-) T-cells via an NF-kappaB-dependent mechanism.
Title: Semaphorin-3E attenuates intestinal inflammation through the regulation of the communication between splenic CD11C(+) and CD4(+) CD25(-) T-cells.
SEMA3E is a novel regulator in intestinal inflammation that regulates intestinal epithelium apoptosis.
Title: Semaphorin 3E regulates apoptosis in the intestinal epithelium during the development of colitis.
recently discovered regulatory role of semaphorin3E in modulating immune cells and structural cells function in the airways. These findings support the concept of semaphorin3E/plexinD1 axis as a therapeutic target in allergic asthma.
Title: The regulatory role of semaphorin 3E in allergic asthma.
Collectively, our data demonstrate that Sema3E expression is decreased in severe allergic asthma, suggestive of a potential role of this molecule in regulating asthmatic phenotype.
Title: Expression of semaphorin 3E is suppressed in severe asthma.
Sema3E induced cell proliferation via acting through the MAPK/ERK pathway.
Title: Overexpression of Semaphorin-3E enhances pancreatic cancer cell growth and associates with poor patient survival.
Sema3E could be considered an essential regulatory mediator involved in modulation of neutrophil migration throughout the course of neutrophilic inflammation.
Title: Chemorepellent Semaphorin 3E Negatively Regulates Neutrophil Migration In Vitro and In Vivo.
Results show high expression level of SEMA3E which correlated with lymph node involvement, metastatic progression and a significant association with poor prognosis in gastric cancer patients. Also, in vitro studies reveal that SEMA3E caused cell proliferation and anchorage-independent cell growth in the intestinal type of gastric cancer.
Title: Enhanced expression of semaphorin 3E is involved in the gastric cancer development.
suggested that miR-4282 is a tumor suppressor in colorectal carcinoma cells and exerted its inhibitory effect on the tumor cells through targeting Sema3E by inhibiting Sema3E translation or enhancing Sema3E mRNA degradation
Title: MiR-4282 suppresses proliferation and mobility of human colorectal carcinoma cells by targeting semaphorin 3E.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of sema domain, immunoglobulin domain, short basic domain, secreted, 3E (SEMA3E) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2540 (e-PCR), detects polymorphism
- UniSTS:70952

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

G09563 (e-PCR)
- UniSTS:16976

D7S2540 (e-PCR), detects polymorphism
- UniSTS:8064

D11S3114 (e-PCR)
- UniSTS:152207

GDB:1317544 (e-PCR)
- UniSTS:49587

REN29193 (e-PCR)
- UniSTS:353993

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemorepellent activity	IBA Inferred from Biological aspect of Ancestor more info
enables neuropilin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables semaphorin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables semaphorin receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in branching involved in blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in neural crest cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in semaphorin-plexin signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in semaphorin-plexin signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in synapse organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: semaphorin-3E

Names: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021242.2 RefSeqGene

Range

5025..290926

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1287

mRNA and Protein(s)

NM_001178129.2 → NP_001171600.1 semaphorin-3E isoform 2

See identical proteins and their annotated locations for NP_001171600.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC079799, AK303925, BC152458

UniProtKB/TrEMBL

B4DLY1

Conserved Domains (3) summary

cd05871
Location:525 → 610

Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin

cd11253
Location:1 → 459

Sema_3E; The Sema domain, a protein interacting module, of semaphorin 3E (Sema3E)

smart00423
Location:458 → 506

PSI; domain found in Plexins, Semaphorins and Integrins
NM_012431.3 → NP_036563.1 semaphorin-3E isoform 1 precursor

See identical proteins and their annotated locations for NP_036563.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC079799, AW450461, BC140706, BC152458, DA722912, DB215551

Consensus CDS

CCDS34674.1

UniProtKB/Swiss-Prot

B4E1P1, O15041, Q75M94, Q75M97

UniProtKB/TrEMBL

B4DLY1

Related

ENSP00000496491.1, ENST00000643230.2

Conserved Domains (3) summary

cd05871
Location:585 → 670

Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin

cd11253
Location:49 → 519

Sema_3E; The Sema domain, a protein interacting module, of semaphorin 3E (Sema3E)

smart00423
Location:518 → 566

PSI; domain found in Plexins, Semaphorins and Integrins