Details for Gene SEMA7A

GENE NAME SEMA7A
CHROMOSOME 15
ENSEMBL ID None
ENTREZ ID ENSG00000138623
UNIPROT ACCESSION NUMBER O75326
GO MOLECULAR FUNCTION ['integrin binding', 'semaphorin receptor binding', 'protein binding', 'chemorepellent activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04360; R-HSA-1266738; R-HSA-373755; R-HSA-416700; R-HSA-422475; R-HSA-9675108
10 combinations linked to SEMA7A OLI1408; OLI1287; OLI910; OLI354; OLI1267; OLI891; OLI1214; OLI914; OLI866; OLI1302
10 variants linked to SEMA7A SEMA7A:p.Phe459Ser; SEMA7A:c.442C>T, p.Arg148Trp; SEMA7A:c.1000G>A, p.Val334Ile; SEMA7A:c.114G>T, p.Trp38Cys; SEMA7A:c.1244G>A, p.Arg415His; SEMA7A:c.1801G>A, p.Glu601Lys; SEMA7A:c.115G>A, p.Ala39Thr; SEMA7A:c.1462G>C, p.Val488Leu; SEMA7A:c.406C>T, p.Arg136Trp; SEMA7A:c.1863C>G, p.Phe621Leu
3 diseases linked to SEMA7A Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome; Normosmic congenital hypogonadotropic hypogonadism

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