Gene Gene information from NCBI Gene database.
Entrez ID 54492
Gene name Neuralized E3 ubiquitin protein ligase 1B
Gene symbol NEURL1B
Synonyms (NCBI Gene)
NEURL3RNF67BhNeur2neur2
Chromosome 5
Chromosome location 5q35.1
miRNA miRNA information provided by mirtarbase database.
784
miRTarBase ID miRNA Experiments Reference
MIRT623125 hsa-miR-342-3p HITS-CLIP 23824327
MIRT623124 hsa-miR-8485 HITS-CLIP 23824327
MIRT632640 hsa-miR-26b-3p HITS-CLIP 23824327
MIRT623120 hsa-miR-4768-5p HITS-CLIP 23824327
MIRT623119 hsa-miR-6833-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19723503
GO:0005737 Component Cytoplasm IEA
GO:0005769 Component Early endosome IBA
GO:0005769 Component Early endosome IEA
GO:0005769 Component Early endosome ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615893 35422 ENSG00000214357
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MQ27
Protein name E3 ubiquitin-protein ligase NEURL1B (EC 2.3.2.27) (Neuralized-2) (NEUR2) (Neuralized-like protein 1B) (Neuralized-like protein 3) (RING-type E3 ubiquitin transferase NEURL1B)
Protein function E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07177 Neuralized 41 193 Neuralized Domain
PF07177 Neuralized 282 433 Neuralized Domain
PF13920 zf-C3HC4_3 499 549 Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in brain, prostate and small intestine. In the brain the levels are higher in fetal than in adult stage. In the adult brain the highest levels are detected in the olfactory system, cerebellar cortex, optic nerve and
Sequence
Sequence length 555
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations