SLIT2 Chromosome 4
Slit guidance ligand 2
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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
RS200038539
Conflicting classifications of pathogenicity
Health Risk
RS200891878
Conflicting classifications of pathogenicity
Health Risk
RS771378965
Conflicting classifications of pathogenicity
Health Risk
RS1008555507
Pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS1577330805
Pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
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 |