Gene Gene information from NCBI Gene database.
Entrez ID 2040
Gene name Stomatin
Gene symbol STOM
Synonyms (NCBI Gene)
BND7EPB7EPB72
Chromosome 9
Chromosome location 9q33.2
Summary This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of
miRNA miRNA information provided by mirtarbase database.
737
miRTarBase ID miRNA Experiments Reference
MIRT002586 hsa-miR-124-3p Microarray 15685193
MIRT002586 hsa-miR-124-3p Microarray 15685193
MIRT002586 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT698746 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT698745 hsa-miR-340-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19696025, 23219802, 25262680, 25416956, 28387307, 32296183, 33961781
GO:0005615 Component Extracellular space HDA 16502470
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 25262680
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133090 3383 ENSG00000148175
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27105
Protein name Stomatin (Erythrocyte band 7 integral membrane protein) (Erythrocyte membrane protein band 7.2) (Protein 7.2b)
Protein function Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.
PDB 7WH3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01145 Band_7 55 228 SPFH domain / Band 7 family Family
Tissue specificity TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Widely expressed. {ECO:0000269|PubMed:1547348, ECO:0000269|PubMed:23219802}.
Sequence
Sequence length 288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA 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
Alzheimer Disease Alzheimer disease Pubtator 36776048 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 16197460 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27577936 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32439797 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 21791420
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 25973071
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 25973071
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 20583170 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30389319
★☆☆☆☆
Found in Text Mining only
DYSTONIA 18 (disorder) Dystonia BEFREE 23622389
★☆☆☆☆
Found in Text Mining only