SLIT2 (slit guidance ligand 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9353
Gene name Gene Name - the full gene name approved by the HGNC.
Slit guidance ligand 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLIT2
Synonyms (NCBI Gene) Gene synonyms aliases
SLIL3, Slit-2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p15.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 durin
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs200151302 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs1008555507 A>C,T Pathogenic Missense variant, coding sequence variant
rs1577330805 G>A Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT043835 hsa-miR-330-3p CLASH 23622248
MIRT755903 hsa-miR-382-3p Luciferase reporter assay, Western blotting, qRT-PCR 36894950
MIRT756274 hsa-miR-423-5p Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), In situ hybridization 38902704
MIRT2333089 hsa-miR-1179 CLIP-seq
MIRT2333090 hsa-miR-4436b-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
HDAC5 Repression 19351956
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(91)
GO ID Ontology Definition Evidence Reference
GO:0001657 Process Ureteric bud development IMP 15130495
GO:0001822 Process Kidney development IEA
GO:0001933 Process Negative regulation of protein phosphorylation IDA 18345009
GO:0002042 Process Cell migration involved in sprouting angiogenesis IMP 19351956
GO:0002689 Process Negative regulation of leukocyte chemotaxis IDA 11309622
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603746 11086 ENSG00000145147
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O94813
Protein name Slit homolog 2 protein (Slit-2) [Cleaved into: Slit homolog 2 protein N-product; Slit homolog 2 protein C-product]
Protein function Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tu
PDB 2V70 , 2V9S , 2V9T , 2WFH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 27 → 54 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 55 → 115 Leucine rich repeat Repeat
PF13855 LRR_8 104 → 163 Leucine rich repeat Repeat
PF13855 LRR_8 127 → 187 Leucine rich repeat Repeat
PF13855 LRR_8 152 → 211 Leucine rich repeat Repeat
PF01463 LRRCT 234 → 258 Leucine rich repeat C-terminal domain Family
PF01462 LRRNT 272 → 299 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 300 → 360 Leucine rich repeat Repeat
PF13855 LRR_8 372 → 432 Leucine rich repeat Repeat
PF01463 LRRCT 454 → 479 Leucine rich repeat C-terminal domain Family
PF13855 LRR_8 534 → 587 Leucine rich repeat Repeat
PF13855 LRR_8 607 → 666 Leucine rich repeat Repeat
PF01463 LRRCT 688 → 713 Leucine rich repeat C-terminal domain Family
PF01462 LRRNT 726 → 753 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 754 → 813 Leucine rich repeat Repeat
PF13855 LRR_8 803 → 861 Leucine rich repeat Repeat
PF01463 LRRCT 883 → 908 Leucine rich repeat C-terminal domain Family
PF00008 EGF 922 → 953 EGF-like domain Domain
PF00008 EGF 961 → 994 EGF-like domain Domain
PF00008 EGF 1002 → 1032 EGF-like domain Domain
PF00008 EGF 1040 → 1072 EGF-like domain Domain
PF00008 EGF 1080 → 1110 EGF-like domain Domain
PF12661 hEGF 1130 → 1151 Human growth factor-like EGF Domain
PF02210 Laminin_G_2 1188 → 1316 Laminin G domain Domain
PF12661 hEGF 1341 → 1362 Human growth factor-like EGF Domain
Tissue specificity TISSUE SPECIFICITY: Fetal lung and kidney, and adult spinal cord. Weak expression in adult adrenal gland, thyroid, trachea and other tissues examined. {ECO:0000269|PubMed:10349621, ECO:0000269|PubMed:9813312}.
Sequence 
MRGVGWQMLSLSLGLVLAILNKVAPQACPAQCSCSGSTVDCHGLALRSVPRNIPRNTERL
DLNGNNITRITKTDFAGLRHLRVLQLMENKISTIERGAFQDLKELERLRLNRNHLQLFPE
LLFLGTAKLYRLDLSENQIQAIPRKAFRGAVDIKNLQLDYNQISCIEDGAFRALRDLEVL
TLNNNNITRLSVASFNHMPKLRTFRLHSNNLYCDCHLAWLSDWLRQRPRVGLYTQCMGPS
HLRGHNVAEVQKREFVCSGHQSFMAPSCSVLHCPAACTCSNNIVDCRGKGLTEIPTNLPE
TITEIRLEQNTIKVIPPGAFSPYKKLRRIDLSNNQISELAPDAFQGLRSLNSLVLYGNKI
TELPKSLFEGLFSLQLLLLNANKINCLRVDAFQDLHNLNLLSLYDNKLQTIAKGTFSPLR
AIQTMHLAQNPFICDCHLKWLADYLHTNPIETSGARCTSPRRLANKRIGQIKSKKFRCSA
KEQYFIPGTEDYRSKLSGDCFADLACPEKCRCEGTTVDCSNQKLNKIPEHIPQYTAELRL
NNNEFTVLEATGIFKKLPQLRKINFSNNKITDIEEGAFEGASGVNEILLTSNRLENVQHK
MFKGLESLKTLMLRSNRITCVGNDSFIGLSSVRLLSLYDNQITTVAPGAFDTLHSLSTLN
LLANPFNCNCYLAWLGEWLRKKRIVTGNPRCQKPYFLKEIPIQDVAIQDFTCDDGNDDNS
CSPLSRCPTECTCLDTVVRCSNKGLKVLPKGIPRDVTELYLDGNQFTLVPKELSNYKHLT
LIDLSNNRISTLSNQSFSNMTQLLTLILSYNRLRCIPPRTFDGLKSLRLLSLHGNDISVV
PEGAFNDLSALSHLAIGANPLYCDCNMQWLSDWVKSEYKEPGIARCAGPGEMADKLLLTT
PSKKFTCQGPVDVNILAKCNPCLSNPCKNDGTCNSDPVDFYRCTCPYGFKGQDCDVPIHA
CISNPCKHGGTCHLKEGEEDGFWCICADGFEGENCEVNVDDCEDNDCENNSTCVDGINNY
TCLCPPEYTGELCEEKLDFCAQDLNPCQHDSKCILTPKGFKCDCTPGYVGEHCDIDFDDC
QDNKCKNGAHCTDAVNGYTCICPEGYSGLFCEFSPPMVLPRTSPCDNFDCQNGAQCIVRI
NEPICQCLPGYQGEKCEKLVSVNFINKESYLQIPSAKVRPQTNITLQIATDEDSGILLYK
GDKDHIAVELYRGRVRASYDTGSHPASAIYSVETINDGNFHIVELLALDQSLSLSVDGGN
PKIITNLSKQSTLNFDSPLYVGGMPGKSNVASLRQAPGQNGTSFHGCIRNLYINSELQDF
QKVPMQTGILPGCEPCHKKVCAHGTCQPSSQAGFTCECQEGWMGPLCDQRTNDPCLGNKC
VHGTCLPINAFSYSCKCLEGHGGVLCDEEEDLFNPCQAIKCKHGKCRLSGLGQPYCECSS
GYTGDSCDREISCRGERIRDYYQKQQGYAACQTTKKVSRLECRGGCAGGQCCGPLRSKRR
KYSFECTDGSSFVDEVEKVVKCGCTRCVS
Sequence length 1529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Axon guidance   Signaling by ROBO receptors
Role of ABL in ROBO-SLIT signaling
SLIT2:ROBO1 increases RHOA activity
Regulation of expression of SLITs and ROBOs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract rs1577330805, rs1008555507 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (73)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32795291, 33979320
Adenoma Associate 23671423
Anisometropia Associate 30111362
Breast Neoplasms Associate 14735202, 19153192, 23011154, 26400100
Breast Neoplasms Inhibit 19550140, 20622896
Carcinogenesis Associate 22719878, 25826459, 32795291
Carcinogenesis Inhibit 27923383
Carcinoma Ductal Associate 26400100
Carcinoma Ductal Breast Associate 19153192
Carcinoma Hepatocellular Associate 29019900