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 | OLI1302; OLI1408; OLI891; OLI1287; OLI354; OLI1214; OLI910; OLI914; OLI866; OLI1267 |
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 |