Gene Gene information from NCBI Gene database.
Entrez ID 27020
Gene name Neuroplastin
Gene symbol NPTN
Synonyms (NCBI Gene)
GP55GP65SDFR1SDR1np55np65
Chromosome 15
Chromosome location 15q24.1
Summary This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by R
miRNA miRNA information provided by mirtarbase database.
594
miRTarBase ID miRNA Experiments Reference
MIRT023641 hsa-miR-1-3p Proteomics 18668040
MIRT029137 hsa-miR-26b-5p Microarray 19088304
MIRT051931 hsa-let-7b-5p CLASH 23622248
MIRT046088 hsa-miR-125b-5p CLASH 23622248
MIRT037907 hsa-miR-455-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0001772 Component Immunological synapse ISS
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0001818 Process Negative regulation of cytokine production ISS
GO:0001934 Process Positive regulation of protein phosphorylation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612820 17867 ENSG00000156642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y639
Protein name Neuroplastin (Stromal cell-derived receptor 1) (SDR-1)
Protein function Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May p
PDB 6A69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 33 120 Domain
PF13927 Ig_3 147 221 Domain
PF13927 Ig_3 237 320 Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is ubiquitously expressed. Isoform 2 is expressed in brain cortex and cerebellum (at protein level). {ECO:0000269|PubMed:17196182, ECO:0000269|Ref.1}.
Sequence
Sequence length 398
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 30488668
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 18568347
★☆☆☆☆
Found in Text Mining only
Glioma Associate 36708808
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 18568347
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 18568347
★☆☆☆☆
Found in Text Mining only
Nephrotic Syndrome Stimulate 29891875
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 30488668
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Associate 37947401
★☆☆☆☆
Found in Text Mining only
Seizures Associate 37814294
★☆☆☆☆
Found in Text Mining only
Status Epilepticus Associate 37814294
★☆☆☆☆
Found in Text Mining only