Gene Gene information from NCBI Gene database.
Entrez ID 23154
Gene name Neurochondrin
Gene symbol NCDN
Synonyms (NCBI Gene)
NEDIES
Chromosome 1
Chromosome location 1p34.3
Summary This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively
miRNA miRNA information provided by mirtarbase database.
221
miRTarBase ID miRNA Experiments Reference
MIRT023258 hsa-miR-122-5p Microarray 17612493
MIRT049742 hsa-miR-92a-3p CLASH 23622248
MIRT040919 hsa-miR-18a-3p CLASH 23622248
MIRT039427 hsa-miR-421 CLASH 23622248
MIRT608917 hsa-miR-331-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21044950, 25416956, 32296183
GO:0005634 Component Nucleus ISS
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
GO:0005829 Component Cytosol IDA 23687301
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608458 17597 ENSG00000020129
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBB6
Protein name Neurochondrin
Protein function Probably involved in signal transduction in the nervous system, via increasing cell surface localization of GRM5/mGluR5 and positively regulating its signaling (PubMed:33711248). Required for the spatial learning process. Acts as a negative regu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05536 Neurochondrin 30 637 Neurochondrin Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in whole adult brain and in all individual brain regions examined, including spinal cord. Weakly expressed in ovary, testis, fetal brain and small intestine. {ECO:0000269|PubMed:10524216, ECO:0000269|PubMed:9628581
Sequence
Sequence length 729
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glutamatergic synapse  
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with infantile epileptic spasms Likely pathogenic; Pathogenic rs2148538021, rs2148537359, rs376408289, rs1305972382, rs2148539394, rs762580458 RCV001775364
RCV002246199
RCV004801936
RCV004801937
RCV001526830
View all (1 more)
★★★★★
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
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NCDN-related disorder Likely benign; Uncertain significance ClinVar
★★☆☆☆
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
Autoimmune Diseases Autoimmune disease Pubtator 39376559 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 33711248 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 33711248 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 29901136
★☆☆☆☆
Found in Text Mining only
Encephalopathies Epileptic encephalopathy BEFREE 31138003
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 33711248 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 34875133 Associate
★☆☆☆☆
Found in Text Mining only
Hypersensitivity Delayed Hypersensitivity Pubtator 33711248 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 25893345
★☆☆☆☆
Found in Text Mining only