Gene Gene information from NCBI Gene database.
Entrez ID 124801
Gene name LSM12 homolog
Gene symbol LSM12
Synonyms (NCBI Gene)
PNAS-135
Chromosome 17
Chromosome location 17q21.31
miRNA miRNA information provided by mirtarbase database.
592
miRTarBase ID miRNA Experiments Reference
MIRT019788 hsa-miR-375 Microarray 20215506
MIRT028449 hsa-miR-30a-5p Proteomics 18668040
MIRT030438 hsa-miR-24-3p Microarray 19748357
MIRT044673 hsa-miR-320a CLASH 23622248
MIRT042258 hsa-miR-484 CLASH 23622248
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:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IDA 34362892
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611793 26407 ENSG00000161654
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3MHD2
Protein name Protein LSM12
Protein function Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein (PubMed:34362892). Confers NAADP sensitivity to the two pore channel complex (TPCs) by acting as TPC accessory protein necessary for NAADP-evoked Ca(2+) release (PubMed:343628
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09793 AD 80 165 Anticodon-binding domain Domain
Sequence
MAAPPGEYFSVGSQVSCRTCQEQRLQGEVVAFDYQSKMLALKCPSSSGKPNHADILLINL
QYVSEVEIINDRTETPPPLASLNVSKLASKARTEKEEKLSQAYAISAGVSLEGQQLFQTI
HKTIKDCKWQEKNIVVMEEVVITPPYQVENCKGKEGSALSHVRKI
VEKHFRDVESQKILQ
RSQAQQPQKEAALSS
Sequence length 195
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
ALZHEIMER DISEASE 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
C9 Deficiency C9 deficiency Pubtator 33362237 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34950443, 37303493 Associate
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 33362237 Associate
★☆☆☆☆
Found in Text Mining only
Melanoma Cutaneous Malignant Melanoma Pubtator 36371223 Stimulate
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 33362237 Associate
★☆☆☆☆
Found in Text Mining only