Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9723
Gene name Gene Name - the full gene name approved by the HGNC.
Semaphorin 3E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEMA3E
Synonyms (NCBI Gene) Gene synonyms aliases
M-SEMAH, M-SemaK, SEMAH, coll-5
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.11
Summary Summary of gene provided in NCBI Entrez 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 st
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608166 10727 ENSG00000170381
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
CHARGE Syndrome CHARGE syndrome N/A N/A GenCC
Glioblastoma Glioblastoma N/A N/A GWAS
Hypogonadotropic Hypogonadism With Or Without Anosmia hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia N/A N/A ClinVar
Associations from Text Mining Disease 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