Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10371
Gene name Gene Name - the full gene name approved by the HGNC.
Semaphorin 3A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEMA3A
Synonyms (NCBI Gene) Gene synonyms aliases
COLL1, HH16, Hsema-I, Hsema-III, SEMA1, SEMAD, SEMAIII, SEMAL, SemD, coll-1
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.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603961 10723 ENSG00000075213
Protein
UniProt ID 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
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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
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Brugada Syndrome Brugada syndrome N/A N/A GenCC
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Hypogonadotropic Hypogonadism With Or Without Anosmia hypogonadotropic hypogonadism 16 with or without anosmia N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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