SLIT2 Chromosome 4

Slit guidance ligand 2
5 variants 5 Health Risk

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What This Gene Does
This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. Members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Proteolytic processing of this protein gives rise to an N-terminal fragment that contains the four leucine-rich repeats and five epidermal growth factor repeats and a C-terminal fragment that contains four epidermal growth factor repeats and the cysteine knot. Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
4p15.31
Ensembl
ENSG00000145147
Associated Conditions (1)
Congenital anomaly of kidney and urinary tract
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS200038539 Health Risk Conflicting classifications of pathogenicity
RS200891878 Health Risk Conflicting classifications of pathogenicity
RS771378965 Health Risk Conflicting classifications of pathogenicity
RS1008555507 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1577330805 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
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