Gene Gene information from NCBI Gene database.
Entrez ID 9240
Gene name PNMA family member 1
Gene symbol PNMA1
Synonyms (NCBI Gene)
MA1
Chromosome 14
Chromosome location 14q24.3
Summary This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identifi
miRNA miRNA information provided by mirtarbase database.
167
miRTarBase ID miRNA Experiments Reference
MIRT726919 hsa-miR-30a-5p HITS-CLIP 22473208
MIRT726918 hsa-miR-30b-5p HITS-CLIP 22473208
MIRT726916 hsa-miR-30c-5p HITS-CLIP 22473208
MIRT726917 hsa-miR-30d-5p HITS-CLIP 22473208
MIRT726915 hsa-miR-30e-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0002437 Process Inflammatory response to antigenic stimulus IEA
GO:0002437 Process Inflammatory response to antigenic stimulus ISS 15201193
GO:0005515 Function Protein binding IPI 14676191, 16169070, 21516116, 21653829, 25416956, 25910212, 26871637, 27107012, 28514442, 29892012, 31515488, 32296183, 33961781, 36217029
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IDA 10050892
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604010 9158 ENSG00000176903
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8ND90
Protein name Paraneoplastic antigen Ma1 (37 kDa neuronal protein) (Neuron- and testis-specific protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14893 PNMA 1 325 PNMA Family
Tissue specificity TISSUE SPECIFICITY: Testis- and brain-specific. In some cancer patients, specifically expressed by paraneoplastic tumor cells. {ECO:0000269|PubMed:10050892, ECO:0000269|PubMed:19366867}.
Sequence
Sequence length 353
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
CARCINOMA, BASAL CELL CTD
★★☆☆☆
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
Brain Stem Neoplasms Brain stem neoplasms Pubtator 12933950 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12933950 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30243081 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30243081 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 31381571 Associate
★☆☆☆☆
Found in Text Mining only
CNS disorder CNS Disorder BEFREE 15201193
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30243081
★☆☆☆☆
Found in Text Mining only