Gene Gene information from NCBI Gene database.
Entrez ID 402665
Gene name IgLON family member 5
Gene symbol IGLON5
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.41
miRNA miRNA information provided by mirtarbase database.
230
miRTarBase ID miRNA Experiments Reference
MIRT018176 hsa-miR-335-5p Microarray 18185580
MIRT040521 hsa-miR-574-3p CLASH 23622248
MIRT667929 hsa-miR-5193 HITS-CLIP 23824327
MIRT667928 hsa-miR-660-3p HITS-CLIP 23824327
MIRT667927 hsa-miR-3183 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0008038 Process Neuron recognition IEA
GO:0050885 Process Neuromuscular process controlling balance IEA
GO:0061744 Process Motor behavior IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618861 34550 ENSG00000142549
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NGN9
Protein name IgLON family member 5
PDB 6DLD , 6DLE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 37 127 Immunoglobulin domain Domain
PF13927 Ig_3 134 199 Domain
PF13927 Ig_3 217 295 Domain
Sequence
Sequence length 336
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
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
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 27262149
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 35857139 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases of the Nervous System Autoimmune nervous system disorder Pubtator 37217310 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 33731000 Associate
★☆☆☆☆
Found in Text Mining only
Brain Stem Neoplasms Brain stem neoplasms Pubtator 31454761 Associate
★☆☆☆☆
Found in Text Mining only
Bulbar Palsy Progressive Bulbar palsy Pubtator 28381508 Associate
★☆☆☆☆
Found in Text Mining only
Chorea Chorea Pubtator 28381508 Associate
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 31454761 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 28381508 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34497681 Associate
★☆☆☆☆
Found in Text Mining only