Gene Gene information from NCBI Gene database.
Entrez ID 27346
Gene name Transmembrane protein 97
Gene symbol TMEM97
Synonyms (NCBI Gene)
MAC30S2Rsigma2R
Chromosome 17
Chromosome location 17q11.2
Summary TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]
miRNA miRNA information provided by mirtarbase database.
793
miRTarBase ID miRNA Experiments Reference
MIRT025807 hsa-miR-7-5p Microarray 17612493
MIRT025807 hsa-miR-7-5p Microarray 19073608
MIRT050502 hsa-miR-20a-5p CLASH 23622248
MIRT041579 hsa-miR-193b-3p CLASH 23622248
MIRT039218 hsa-miR-769-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth NAS 7694637
GO:0005515 Function Protein binding IPI 19583955, 30443021, 32296183, 34233061, 34799735, 37047353
GO:0005634 Component Nucleus IEA
GO:0005764 Component Lysosome IDA 19583955
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612912 28106 ENSG00000109084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5BJF2
Protein name Sigma intracellular receptor 2 (S2R) (Sigma-2 receptor) (Sigma2 receptor) (Meningioma-associated protein 30) (MAC30) (Transmembrane protein 97)
Protein function Sigma-2 receptor which contributes to ameliorate dysfunctional cellular processes and slow degenerative progression by regulating cell functions including cholesterol biosynthesis/trafficking, membrane trafficking, autophagy, lipid membrane-boun
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05241 EBP 43 161 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in normal tissues. Expressed in pancreatic, renal, breast, colon, ovarian surface epithelial (OSE) cells. Highly expressed in various proliferating cancer cells (PubMed:23922215). {ECO:0000269|PubMed:15375745, ECO:0000
Sequence
Sequence length 176
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Neuroactive ligand-receptor interaction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ATROPHIC MACULAR DEGENERATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION 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
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 31109310
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 31109310
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28347815, 29990302, 30421909
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 21918976, 25173780, 30574087
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 18070364
★☆☆☆☆
Found in Text Mining only
CNS disorder CNS Disorder BEFREE 31071238
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 27926996
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 15375745
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 15375745
★☆☆☆☆
Found in Text Mining only