Gene Gene information from NCBI Gene database.
Entrez ID 26050
Gene name SLIT and NTRK like family member 5
Gene symbol SLITRK5
Synonyms (NCBI Gene)
LRRC11bA364G4.2
Chromosome 13
Chromosome location 13q31.2
Summary Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1060499750 G>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
61
miRTarBase ID miRNA Experiments Reference
MIRT489485 hsa-miR-4428 PAR-CLIP 23592263
MIRT489484 hsa-miR-6770-5p PAR-CLIP 23592263
MIRT489483 hsa-miR-3150b-3p PAR-CLIP 23592263
MIRT489482 hsa-miR-4784 PAR-CLIP 23592263
MIRT489481 hsa-miR-3184-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane TAS
GO:0007268 Process Chemical synaptic transmission IEA
GO:0007409 Process Axonogenesis IBA
GO:0007409 Process Axonogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609680 20295 ENSG00000165300
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94991
Protein name SLIT and NTRK-like protein 5 (Leucine-rich repeat-containing protein 11)
Protein function Suppresses neurite outgrowth.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 105 165 Leucine rich repeat Repeat
PF13855 LRR_8 129 189 Leucine rich repeat Repeat
PF13855 LRR_8 154 212 Leucine rich repeat Repeat
PF13855 LRR_8 412 469 Leucine rich repeat Repeat
PF13855 LRR_8 457 517 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in the cerebral cortex of the brain but also at low levels in the spinal cord and medulla. {ECO:0000269|PubMed:14557068}.
Sequence
MHTCCPPVTLEQDLHRKMHSWMLQTLAFAVTSLVLSCAETIDYYGEICDNACPCEEKDGI
LTVSCENRGIISLSEISPPRFPIYHLLLSGNLLNRLYPNEFVNYTGASILHLGSNVIQDI
ETGAFHGL
RGLRRLHLNNNKLELLRDDTFLGLENLEYLQVDYNYISVIEPNAFGKLHLLQ
VLILNDNLL
SSLPNNLFRFVPLTHLDLRGNRL
KLLPYVGLLQHMDKVVELQLEENPWNCS
CELISLKDWLDSISYSALVGDVVCETPFRLHGRDLDEVSKQELCPRRLISDYEMRPQTPL
STTGYLHTTPASVNSVATSSSAVYKPPLKPPKGTRQPNKPRVRPTSRQPSKDLGYSNYGP
SIAYQTKSPVPLECPTACSCNLQISDLGLNVNCQERKIESIAELQPKPYNPKKMYLTENY
IAVVRRTDFLEATGLDLLHLGNNRISMIQDRAFGDL
TNLRRLYLNGNRIERLSPELFYGL
QSLQYLFLQYNLIREIQSGTFDPVPNLQLLFLNNNLL
QAMPSGVFSGLTLLRLNLRSNHF
TSLPVSGVLDQLKSLIQIDLHDNPWDCTCDIVGMKLWVEQLKVGVLVDEVICKAPKKFAE
TDMRSIKSELLCPDYSDVVVSTPTPSSIQVPARTSAVTPAVRLNSTGAPASLGAGGGASS
VPLSVLILSLLLVFIMSVFVAAGLFVLVMKRRKKNQSDHTSTNNSDVSSFNMQYSVYGGG
GGTGGHPHAHVHHRGPALPKVKTPAGHVYEYIPHPLGHMCKNPIYRSREGNSVEDYKDLH
ELKVTYSSNHHLQQQQQPPPPPQQPQQQPPPQLQLQPGEEERRESHHLRSPAYSVSTIEP
REDLLSPVQDADRFYRGILEPDKHCSTTPAGNSLPEYPKFPCSPAAYTFSPNYDLRRPHQ
YLHPGAGDSRLREPVLYSPPSAVFVEPNRNEYLELKAKLNVEPDYLEVLEKQTTFSQF
Sequence length 958
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules   Receptor-type tyrosine-protein phosphatases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs1060499750 RCV000454171
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Autism spectrum disorder association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLITRK5-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amyotrophic Lateral Sclerosis Stimulate 40033250
★☆☆☆☆
Found in Text Mining only
Friedreich Ataxia Associate 39519164
★☆☆☆☆
Found in Text Mining only
Hyperparathyroidism Primary Associate 36102151
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 27599611
★☆☆☆☆
Found in Text Mining only
Obsessive Compulsive Disorder Associate 23154099
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 27708434
★☆☆☆☆
Found in Text Mining only