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Aliases for SEMA3E Gene

Aliases for SEMA3E Gene

  • Semaphorin 3E 2 3
  • Sema Domain, Immunoglobulin Domain (Ig), Short Basic Domain, Secreted, (Semaphorin) 3E 2 3 5
  • SEMAH 3 4
  • M-Sema H 2
  • KIAA0331 4
  • M-SEMAH 3
  • M-SemaK 3
  • Coll-5 3

External Ids for SEMA3E Gene

Previous HGNC Symbols for SEMA3E Gene

  • SEMAH

Previous GeneCards Identifiers for SEMA3E Gene

  • GC07M081528
  • GC07M082591
  • GC07M082605
  • GC07M082637
  • GC07M082831
  • GC07M082993
  • GC07M077595

Summaries for SEMA3E Gene

Entrez Gene Summary for SEMA3E Gene

  • 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]

GeneCards Summary for SEMA3E Gene

SEMA3E (Semaphorin 3E) is a Protein Coding gene. Diseases associated with SEMA3E include charge syndrome and severe nonproliferative diabetic retinopathy. Among its related pathways are Axon guidance and Developmental Biology. GO annotations related to this gene include receptor activity and semaphorin receptor binding. An important paralog of this gene is SEMA3F.

UniProtKB/Swiss-Prot for SEMA3E Gene

  • Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA3E Gene

Genomics for SEMA3E Gene

Regulatory Elements for SEMA3E Gene

Enhancers for SEMA3E Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SEMA3E on UCSC Golden Path with GeneCards custom track

Promoters for SEMA3E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEMA3E on UCSC Golden Path with GeneCards custom track

Genomic Location for SEMA3E Gene

Chromosome:
7
Start:
83,363,906 bp from pter
End:
83,649,163 bp from pter
Size:
285,258 bases
Orientation:
Minus strand

Genomic View for SEMA3E Gene

Genes around SEMA3E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEMA3E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEMA3E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA3E Gene

Proteins for SEMA3E Gene

  • Protein details for SEMA3E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15041-SEM3E_HUMAN
    Recommended name:
    Semaphorin-3E
    Protein Accession:
    O15041
    Secondary Accessions:
    • B4E1P1
    • Q75M94
    • Q75M97

    Protein attributes for SEMA3E Gene

    Size:
    775 amino acids
    Molecular mass:
    89228 Da
    Quaternary structure:
    • Interacts with PLXND1.
    SequenceCaution:
    • Sequence=BAA20789.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SEMA3E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEMA3E Gene

Proteomics data for SEMA3E Gene at MOPED

Post-translational modifications for SEMA3E Gene

  • Glycosylation at Asn 44, Asn 126, Asn 330, Asn 595, and Asn 596
  • Modification sites at PhosphoSitePlus

Other Protein References for SEMA3E Gene

Antibody Products

  • R&D Systems Antibodies for SEMA3E (Semaphorin 3E)

No data available for DME Specific Peptides for SEMA3E Gene

Domains & Families for SEMA3E Gene

Suggested Antigen Peptide Sequences for SEMA3E Gene

Graphical View of Domain Structure for InterPro Entry

O15041

UniProtKB/Swiss-Prot:

SEM3E_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Belongs to the semaphorin family.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 Sema domain.
Family:
  • Belongs to the semaphorin family.
genes like me logo Genes that share domains with SEMA3E: view

Function for SEMA3E Gene

Molecular function for SEMA3E Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity).

LifeMap Function Summary for SEMA3E Gene

It affects the following cells:
genes like me logo Genes that share phenotypes with SEMA3E: view

Human Phenotype Ontology for SEMA3E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEMA3E Gene

MGI Knock Outs for SEMA3E:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEMA3E

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SEMA3E Gene

Localization for SEMA3E Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA3E Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEMA3E Gene COMPARTMENTS Subcellular localization image for SEMA3E gene
Compartment Confidence
extracellular 5
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for SEMA3E Gene

Pathways & Interactions for SEMA3E Gene

genes like me logo Genes that share pathways with SEMA3E: view

Pathways by source for SEMA3E Gene

1 KEGG pathway for SEMA3E Gene

Gene Ontology (GO) - Biological Process for SEMA3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IBA --
GO:0001953 negative regulation of cell-matrix adhesion ISS --
GO:0007411 axon guidance TAS --
GO:0008360 regulation of cell shape ISS --
GO:0030335 positive regulation of cell migration IBA --
genes like me logo Genes that share ontologies with SEMA3E: view

No data available for SIGNOR curated interactions for SEMA3E Gene

Drugs & Compounds for SEMA3E Gene

No Compound Related Data Available

Transcripts for SEMA3E Gene

Unigene Clusters for SEMA3E Gene

Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA3E Gene

No ASD Table

Relevant External Links for SEMA3E Gene

GeneLoc Exon Structure for
SEMA3E
ECgene alternative splicing isoforms for
SEMA3E

Expression for SEMA3E Gene

mRNA expression in normal human tissues for SEMA3E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEMA3E Gene

This gene is overexpressed in Esophagus - Muscularis (x4.4) and Esophagus - Gastroesophageal Junction (x4.3).

Protein differential expression in normal tissues from HIPED for SEMA3E Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEMA3E Gene



SOURCE GeneReport for Unigene cluster for SEMA3E Gene Hs.528721

genes like me logo Genes that share expression patterns with SEMA3E: view

Protein tissue co-expression partners for SEMA3E Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SEMA3E Gene

Orthologs for SEMA3E Gene

This gene was present in the common ancestor of animals.

Orthologs for SEMA3E Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEMA3E 35
  • 90.32 (n)
  • 93.29 (a)
SEMA3E 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEMA3E 35
  • 89.27 (n)
  • 92.91 (a)
SEMA3E 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sema3e 35
  • 85.16 (n)
  • 90.19 (a)
Sema3e 16
Sema3e 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEMA3E 35
  • 99.57 (n)
  • 99.74 (a)
SEMA3E 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sema3e 35
  • 84.77 (n)
  • 89.42 (a)
oppossum
(Monodelphis domestica)
Mammalia SEMA3E 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA3E 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEMA3E 35
  • 77.63 (n)
  • 81.55 (a)
SEMA3E 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEMA3E 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema3e 35
  • 73.78 (n)
  • 76.27 (a)
zebrafish
(Danio rerio)
Actinopterygii sema3e 35
  • 62.4 (n)
  • 60.97 (a)
sema3e 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4383 37
  • 31 (a)
Sema-1b 37
  • 32 (a)
Sema-2a 37
  • 32 (a)
Species with no ortholog for SEMA3E:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEMA3E Gene

ENSEMBL:
Gene Tree for SEMA3E (if available)
TreeFam:
Gene Tree for SEMA3E (if available)

Paralogs for SEMA3E Gene

(13) SIMAP similar genes for SEMA3E Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SEMA3E Gene

genes like me logo Genes that share paralogs with SEMA3E: view

Variants for SEMA3E Gene

Sequence variations from dbSNP and Humsavar for SEMA3E Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs978582 -- 83,536,199(-) CAAAA(G/T)CTGGT intron-variant
rs985068 -- 83,535,437(-) CTTAG(C/T)GAATG intron-variant
rs985069 -- 83,535,335(-) TACTG(A/G)CAAAA intron-variant
rs988578 -- 83,531,898(-) AGGTG(C/T)CAATC intron-variant
rs993760 -- 83,608,920(-) AAATT(C/T)TATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEMA3E Gene

Variant ID Type Subtype PubMed ID
nsv824189 CNV Gain 20364138
esv2519932 CNV Deletion 19546169
dgv1120n67 CNV Gain 20364138
nsv821148 CNV Deletion 20802225
nsv824191 CNV Gain 20364138
esv2734754 CNV Deletion 23290073
esv2678160 CNV Deletion 23128226
esv2734755 CNV Deletion 23290073
esv2734756 CNV Deletion 23290073
esv2734757 CNV Deletion 23290073
esv2734758 CNV Deletion 23290073
esv272106 CNV Insertion 20981092
nsv511976 CNV Loss 21212237
esv2673845 CNV Deletion 23128226
esv27343 CNV Loss 19812545
esv33579 CNV Loss 17666407
esv1184566 CNV Insertion 17803354
dgv7366n71 CNV Loss 21882294
nsv888608 CNV Loss 21882294
nsv824195 CNV Loss 20364138
nsv526178 CNV Loss 19592680
nsv818531 CNV Gain 17921354
nsv483120 CNV Loss 15286789
esv2674112 CNV Deletion 23128226

Variation tolerance for SEMA3E Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.22; 76.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEMA3E Gene

HapMap Linkage Disequilibrium report
SEMA3E
Human Gene Mutation Database (HGMD)
SEMA3E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA3E Gene

Disorders for SEMA3E Gene

MalaCards: The human disease database

(5) MalaCards diseases for SEMA3E Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charge syndrome
  • charge association
severe nonproliferative diabetic retinopathy
  • high risk non proliferative diabetic retinopathy
ischemic retinopathy
endometrioid ovary carcinoma
  • endometrioid carcinoma of ovary
kallmann syndrome
  • familial hypogonadism with anosmia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEMA3E

Genetic Association Database (GAD)
SEMA3E
Human Genome Epidemiology (HuGE) Navigator
SEMA3E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEMA3E
genes like me logo Genes that share disorders with SEMA3E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEMA3E Gene

Publications for SEMA3E Gene

  1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4 67
  2. Semaphorin 3E expression correlates inversely with Plexin D1 during tumor progression. (PMID: 18974298) Roodink I. … Leenders W. (Am. J. Pathol. 2008) 3 23
  3. Transcription of a novel mouse semaphorin gene, M-semaH, correlates with the metastatic ability of mouse tumor cell lines. (PMID: 9515811) Christensen C.R. … Lukanidin E. (Cancer Res. 1998) 2 3
  4. Aqueous Levels of Angiopoietin-like 4 and Semaphorin 3E Correlate with Nonperfusion Area and Macular Volume in Diabetic Retinopathy. (PMID: 25687026) Kwon S.H. … Park D.H. (Ophthalmology 2015) 3
  5. Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. (PMID: 25985275) Cariboni A. … Ruhrberg C. (J. Clin. Invest. 2015) 3

Products for SEMA3E Gene

Sources for SEMA3E Gene

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