SLITRK2 (SLIT and NTRK like family member 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 84631
Gene name SLIT and NTRK like family member 2
Gene symbol SLITRK2
Synonyms (NCBI Gene)
CXorf1CXorf2SLITL1TMEM257XLID111
Chromosome X
Chromosome location Xq27.3
Summary This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively s
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT1369745 hsa-miR-103a CLIP-seq
MIRT1369746 hsa-miR-107 CLIP-seq
MIRT1369747 hsa-miR-15a CLIP-seq
MIRT1369748 hsa-miR-15b CLIP-seq
MIRT1369749 hsa-miR-16 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 35840571
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane IMP 35840571
GO:0005886 Component Plasma membrane TAS
GO:0007409 Process Axonogenesis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
300561 13449 ENSG00000185985
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H156
Protein name SLIT and NTRK-like protein 2
Protein function It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321, PubMed:35840571). Suppresses neurite outgrowth (By similarity). Involved in the negative regulation of NTRK2 (PubMed:35840571). {
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 399 → 459 Leucine rich repeat Repeat
PF13855 LRR_8 86 → 146 Leucine rich repeat Repeat
PF13855 LRR_8 142 → 193 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. Also expressed in some astrocytic brain tumors such as astrocytomas, oligodendrogliomas, glioblastomas, gangliogliomas a
Sequence 
MLSGVWFLSVLTVAGILQTESRKTAKDICKIRCLCEEKENVLNINCENKGFTTVSLLQPP
QYRIYQLFLNGNLLTRLYPNEFVNYSNAVTLHLGNNGLQEIRTGAFSGLKTLKRLHLNNN
KLEILREDTFLGLESLEYLQADYNYISAIEAGAFSKLNKLKVLILNDNLLLSLPSNVFRF
VLLTHLDLRGNRLKVMPFAGVLEHIGGIMEIQLEENPWNCTCDLLPLKAWLDTITVFVGE
IVCETPFRLHGKDVTQLTRQDLCPRKSASDSSQRGSHADTHVQRLSPTMNPALNPTRAPK
ASRPPKMRNRPTPRVTVSKDRQSFGPIMVYQTKSPVPLTCPSSCVCTSQSSDNGLNVNCQ
ERKFTNISDLQPKPTSPKKLYLTGNYLQTVYKNDLLEYSSLDLLHLGNNRIAVIQEGAFT
NLTSLRRLYLNGNYLEVLYPSMFDGLQSLQYLYLEYNVIKEIKPLTFDALINLQLLFLNN
NLLRSLPDNIFGGTALTRLNLRNNHFSHLPVKGVLDQLPAFIQIDLQENPWDCTCDIMGL
KDWTEHANSPVIINEVTCESPAKHAGEILKFLGREAICPDSPNLSDGTVLSMNHNTDTPR
SLSVSPSSYPELHTEVPLSVLILGLLVVFILSVCFGAGLFVFVLKRRKGVPSVPRNTNNL
DVSSFQLQYGSYNTETHDKTDGHVYNYIPPPVGQMCQNPIYMQKEGDPVAYYRNLQEFSY
SNLEEKKEEPATPAYTISATELLEKQATPREPELLYQNIAERVKELPSAGLVHYNFCTLP
KRQFAPSYESRRQNQDRINKTVLYGTPRKCFVGQSKPNHPLLQAKPQSEPDYLEVLEKQT
AISQL
Sequence length 845
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Cell adhesion molecules Receptor-type tyrosine-protein phosphatases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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
Intellectual developmental disorder, X-linked 111 Likely pathogenic; Pathogenic rs2073068605, rs2073064247, rs2124181878, rs782072593 RCV003227996
RCV003227997
RCV003227998
RCV003227999
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs2073068605, rs2073064247, rs2124181878, rs2124152159, rs782072593 RCV002267769
RCV002267770
RCV002267771
RCV002267772
RCV002267773
★★★★★
★★★★★
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 Reference Evidence Score
DYSLEXIA — GWAS catalog 36266505
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
X-linked complex neurodevelopmental disorder — ClinGen ClinGen report
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder BEFREE 19488044
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 19488044 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31034097
★★★★★
★☆☆☆☆
Found in Text Mining only
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ZFX 2 shared diseasesIntellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder 5 shared evidence sourcesDisgenet (Intellectual developmental disorder, x-linked), HPO (Intellectual developmental disorder, x-linked), ClinVar (Intellectual developmental disorder, x-linked), GenCC (Intellectual developmental disorder, x-linked), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Intellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder — evidence mostly Disgenet. FTSJ1 2 shared diseasesIntellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder 5 shared evidence sourcesDisgenet (Intellectual developmental disorder, x-linked), HPO (Intellectual developmental disorder, x-linked), ClinVar (Intellectual developmental disorder, x-linked), GenCC (Intellectual developmental disorder, x-linked), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Intellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder — evidence mostly Disgenet. USP27X 2 shared diseasesIntellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder 4 shared evidence sourcesDisgenet (Intellectual developmental disorder, x-linked), HPO (Intellectual developmental disorder, x-linked), ClinVar (Intellectual developmental disorder, x-linked), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Intellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder — evidence mostly Disgenet. HNRNPH2 2 shared diseasesIntellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder 4 shared evidence sourcesDisgenet (Intellectual developmental disorder, x-linked), HPO (Intellectual developmental disorder, x-linked), ClinVar (Intellectual developmental disorder, x-linked), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Intellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder — evidence mostly Disgenet. ZNF711 2 shared diseasesIntellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder 4 shared evidence sourcesDisgenet (Intellectual developmental disorder, x-linked), HPO (Intellectual developmental disorder, x-linked), ClinVar (Intellectual developmental disorder, x-linked), ClinGen (X-linked complex neurodevelopmental disorder) Related via 2 shared diseases including Intellectual developmental disorder, x-linked, X-linked complex neurodevelopmental disorder — evidence mostly Disgenet.
X-linked intellectual disability Linked via 3 of 5 related genesFTSJ1, USP27X, ZNF711 Neurodevelopmental disorder Linked via 2 of 5 related genesUSP27X, HNRNPH2 Schizophrenia Linked via 1 of 5 related genesZFX X-linked syndromic complex neurodevelopmental disorder Linked via 1 of 5 related genesZFX Autism Linked via 1 of 5 related genesFTSJ1