Gene Gene information from NCBI Gene database.
Entrez ID 9723
Gene name Semaphorin 3E
Gene symbol SEMA3E
Synonyms (NCBI Gene)
M-SEMAHM-SemaKSEMAHcoll-5
Chromosome 7
Chromosome location 7q21.11
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 st
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121918341 G>A Pathogenic Missense variant, coding sequence variant
rs765040215 T>C Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
570
miRTarBase ID miRNA Experiments Reference
MIRT040087 hsa-miR-615-3p CLASH 23622248
MIRT620445 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT620444 hsa-miR-2276-5p HITS-CLIP 19536157
MIRT620443 hsa-miR-877-3p HITS-CLIP 19536157
MIRT648129 hsa-miR-6515-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
GO:0001569 Process Branching involved in blood vessel morphogenesis ISS
GO:0001755 Process Neural crest cell migration IBA
GO:0001953 Process Negative regulation of cell-matrix adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608166 10727 ENSG00000170381
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15041
Protein name Semaphorin-3E
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 60 498 Sema domain Family
PF00047 ig 585 669 Immunoglobulin domain Domain
Sequence
Sequence length 775
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Other semaphorin interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
752
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHARGE syndrome Likely pathogenic rs2115654665 RCV001824193
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Uncertain significance rs145249878 RCV001849448
Cervical cancer Benign; Likely benign rs142204796 RCV005893637
Dilated cardiomyopathy 1A Conflicting classifications of pathogenicity rs2116916386 RCV002259536
Hypogonadotropic hypogonadism 5 with or without anosmia Conflicting classifications of pathogenicity rs121918341, rs147614840 RCV004584592
RCV004585063
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 27666723
CHARGE Syndrome Associate 31691538
digital ulcers Associate 26292963
Hypogonadism Associate 33270637
Insulin Resistance Associate 37175783
Lymphatic Metastasis Associate 27666723, 28951630
Neoplasms Associate 21559368, 28052097, 28951630
Ovarian Neoplasms Associate 21559368
Ovarian Neoplasms Inhibit 28793334
Raynaud Disease Stimulate 26292963