Details for Gene SEMA3A

GENE NAME SEMA3A
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000075213
UNIPROT ACCESSION NUMBER Q14563
GO MOLECULAR FUNCTION ['semaphorin receptor binding', 'neuropilin binding', 'chemorepellent activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04360; R-HSA-1266738; R-HSA-373755; R-HSA-399954; R-HSA-399955; R-HSA-399956; R-HSA-422475; R-HSA-9675108
25 combinations linked to SEMA3A OLI1431; OLI1523; OLI286; OLI1111; OLI815; OLI1115; OLI289; OLI287; OLI1295; OLI1285; OLI285; OLI881; OLI1352; OLI1297; OLI863; OLI288; OLI1286; OLI1342; OLI1406; OLI1348; OLI075; OLI1591; OLI1357; OLI1266; OLI1262
18 variants linked to SEMA3A SEMA3A:c.2150C>T, p.Thr717Ile; SEMA3A:c.1198A>G, p.Ile400Val; SEMA3A:c.1303G>A, p.Val435Ile; SEMA3A:c.2062A>G, p.Thr688Ala; SEMA3A:c.1457C>T, p.Pro486Leu; SEMA3A:c.196C>T, p.Arg66Trp; SEMA3A:c.869G>A, p.Arg290His; SEMA3A:c.539T>G, p.Leu180Arg; SEMA3A:c.1303G>A, p.Val435Ile; SEMA3A:c.1546C>T, p.Arg516Trp; SEMA3A:c.458A>G, p.Asn153Ser; SEMA3A:c.1453-9delG, ; SEMA3A:c.1306G>A, p.Val436Ile; SEMA3A:c.1432G>A, p.Glu478Lys; SEMA3A:c.2200C>T, p.Arg734Trp; SEMA3A:c.708C>G, p.Asp236Glu; SEMA3A:c.1922A>T, p.Gln641Leu; SEMA3A:c.9G>C, p.Trp3Cys
6 diseases linked to SEMA3A 46,XY disorder of sex development; CHARGE syndrome; Isolated congenital anosmia; Hypogonadotropic hypogonadism with absent puberty phenotype; Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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