Gene Gene information from NCBI Gene database.
Entrez ID 10371
Gene name Semaphorin 3A
Gene symbol SEMA3A
Synonyms (NCBI Gene)
COLL1HH16Hsema-IHsema-IIISEMA1SEMADSEMAIIISEMALSemDcoll-1
Chromosome 7
Chromosome location 7q21.11
Summary This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs138952094 G>A Benign, likely-pathogenic Missense variant, coding sequence variant
rs147436181 C>T Not-provided, risk-factor, benign Coding sequence variant, missense variant
rs1064793265 G>A Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
225
miRTarBase ID miRNA Experiments Reference
MIRT1334604 hsa-miR-141 CLIP-seq
MIRT1334605 hsa-miR-15a CLIP-seq
MIRT1334606 hsa-miR-15b CLIP-seq
MIRT1334607 hsa-miR-16 CLIP-seq
MIRT1334608 hsa-miR-186 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0001764 Process Neuron migration ISS
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 8269517
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603961 10723 ENSG00000075213
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14563
Protein name Semaphorin-3A (Semaphorin III) (Sema III)
Protein function Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Bi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 59 496 Sema domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the dorsal root ganglia. {ECO:0000269|PubMed:28270793}.
Sequence
MGWLTRIVCLFWGVLLTARANYQNGKNNVPRLKLSYKEMLESNNVITFNGLANSSSYHTF
LLDEERSRLYVGAKDHIFSFDLVNIKDFQKIVWPVSYTRRDECKWAGKDILKECANFIKV
LKAYNQTHLYACGTGAFHPICTYIEIGHHPEDNIFKLENSHFENGRGKSPYDPKLLTASL
LIDGELYSGTAADFMGRDFAIFRTLGHHHPIRTEQHDSRWLNDPKFISAHLISESDNPED
DKVYFFFRENAIDGEHSGKATHARIGQICKNDFGGHRSLVNKWTTFLKARLICSVPGPNG
IDTHFDELQDVFLMNFKDPKNPVVYGVFTTSSNIFKGSAVCMYSMSDVRRVFLGPYAHRD
GPNYQWVPYQGRVPYPRPGTCPSKTFGGFDSTKDLPDDVITFARSHPAMYNPVFPMNNRP
IVIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDVGTVLKVVSIPKETWYDLEEVLLEEM
TVFREPTAISAMELST
KQQQLYIGSTAGVAQLPLHRCDIYGKACAECCLARDPYCAWDGS
ACSRYFPTAKRRTRRQDIRNGDPLTHCSDLHHDNHHGHSPEERIIYGVENSSTFLECSPK
SQRALVYWQFQRRNEERKEEIRVDDHIIRTDQGLLLRSLQQKDSGNYLCHAVEHGFIQTL
LKVTLEVIDTEHLEELLHKDDDGDGSKTKEMSNSMTPSQKVWYRDFMQLINHPNLNTMDE
FCEQVWKRDRKQRRQRPGHTPGNSNKWKHLQENKKGRNRRTHEFERAPRSV
Sequence length 771
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Sema3A PAK dependent Axon repulsion
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
CRMPs in Sema3A signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
104
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Conflicting classifications of pathogenicity rs139295139 RCV001849309
Delayed puberty Benign; Likely benign rs138952094 RCV000156947
Familial cancer of breast Benign rs150288942 RCV005903538
Gastric cancer Benign rs150288942 RCV005903540
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 24756974
Alcoholism Associate 29071344
Alzheimer Disease Associate 33663605
Arrhythmias Cardiac Associate 24963029
Arthritis Associate 22697500
Arthritis Rheumatoid Inhibit 23343469
Arthritis Rheumatoid Associate 28775366
Arthritis Rheumatoid Stimulate 30538782
Bone Diseases Associate 25336945
Breast Neoplasms Associate 18787945, 20655307, 29971782, 31929841, 38263416