SLIT2 (slit guidance ligand 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9353
Gene name Slit guidance ligand 2
Gene symbol SLIT2
Synonyms (NCBI Gene)
SLIL3Slit-2
Chromosome 4
Chromosome location 4p15.31
Summary 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.
3
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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT043835 hsa-miR-330-3p CLASH 23622248
MIRT755903 hsa-miR-382-3p Luciferase reporter assayWestern blottingqRT-PCR 36894950
MIRT756274 hsa-miR-423-5p Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)In situ hybridization 38902704
MIRT2333089 hsa-miR-1179 CLIP-seq
MIRT2333090 hsa-miR-4436b-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HDAC5 Repression 19351956
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603746 11086 ENSG00000145147
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital anomaly of kidney and urinary tract Pathogenic rs1577330805, rs1008555507 RCV000845119
RCV000845121
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (23)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (168)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19550140
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21264840, 24705471
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 30739251
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 16636676
★★★★★
★☆☆☆☆
Found in Text Mining only
Anisometropia Anisometropia Pubtator 30111362 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24448236
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26297762
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 26297762
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 21694441
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30019121
★★★★★
★☆☆☆☆
Found in Text Mining only