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] See more...

Aliases for TMEM97 Gene

Aliases for TMEM97 Gene

  • Transmembrane Protein 97 2 3 4 5
  • Meningioma-Associated Protein 30 3 4
  • Sigma Intracellular Receptor 2 3 4
  • Sigma-2 Receptor 3 4
  • Sigma2 Receptor 3 4
  • MAC30 3 4
  • S2R 4

External Ids for TMEM97 Gene

Previous GeneCards Identifiers for TMEM97 Gene

  • GC17P023671
  • GC17P026647
  • GC17P022854

Summaries for TMEM97 Gene

Entrez Gene Summary for TMEM97 Gene

  • 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]

GeneCards Summary for TMEM97 Gene

TMEM97 (Transmembrane Protein 97) is a Protein Coding gene. Diseases associated with TMEM97 include Meningioma, Familial.

UniProtKB/Swiss-Prot Summary for TMEM97 Gene

  • Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cancer cells (PubMed:28559337). Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation (PubMed:23922215, PubMed:25620095). Under investigation for its potential diagnostic and therapeutic uses (PubMed:23922215, PubMed:25620095). May play a role as a regulator of cellular cholesterol homeostasis (PubMed:19583955). May function as sterol isomerase (PubMed:25566323). May alter the activity of some cytochrome P450 proteins (PubMed:22292588).

Additional gene information for TMEM97 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM97 Gene

Genomics for TMEM97 Gene

GeneHancer (GH) Regulatory Elements for TMEM97 Gene

Promoters and enhancers for TMEM97 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM97 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM97 gene promoter:
  • AREB6
  • Brachyury
  • C/EBPbeta
  • Cart-1
  • CUTL1
  • En-1
  • FOXD3
  • Pax-4a
  • TGIF
  • Zic3

Genomic Locations for TMEM97 Gene

Genomic Locations for TMEM97 Gene
chr17:28,319,095-28,328,685
(GRCh38/hg38)
Size:
9,591 bases
Orientation:
Plus strand
chr17:26,646,121-26,655,711
(GRCh37/hg19)
Size:
9,591 bases
Orientation:
Plus strand

Genomic View for TMEM97 Gene

Genes around TMEM97 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM97 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM97 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM97 Gene

Proteins for TMEM97 Gene

  • Protein details for TMEM97 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BJF2-SGMR2_HUMAN
    Recommended name:
    Sigma intracellular receptor 2
    Protein Accession:
    Q5BJF2
    Secondary Accessions:
    • B4DS02
    • Q07823

    Protein attributes for TMEM97 Gene

    Size:
    176 amino acids
    Molecular mass:
    20848 Da
    Quaternary structure:
    • Interacts with NPC1.
    Miscellaneous:
    • Sigma receptors are classified into two subtypes (Sigma-1 and Sigma-2) based on their different pharmacological profile. Sigma-2 receptors are identified by radioligand-binding studies as a binding site with high affinity for di-o-tolylguanidine (DTG) and haloperidol.
    • Potentially useful for cancer diagnostics or as target for anticancer therapeutics or adjuvant anticancer treatment agents (PubMed:23922215). Some exogenous ligands display a neuroprotective effect (PubMed:25620095).
    SequenceCaution:
    • Sequence=AAA16188.1; Type=Frameshift; Positions=5; Evidence={ECO:0000305};

neXtProt entry for TMEM97 Gene

Post-translational modifications for TMEM97 Gene

  • Ubiquitination at Lys48, Lys52, and Lys130
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM97 Gene

No data available for DME Specific Peptides for TMEM97 Gene

Domains & Families for TMEM97 Gene

Gene Families for TMEM97 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM97 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM97 Gene

GenScript: Design optimal peptide antigens:
  • Protein MAC30 (TMM97_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5BJF2

UniProtKB/Swiss-Prot:

SGMR2_HUMAN :
  • Belongs to the TMEM97/sigma-2 receptor family.
Family:
  • Belongs to the TMEM97/sigma-2 receptor family.
genes like me logo Genes that share domains with TMEM97: view

Function for TMEM97 Gene

Molecular function for TMEM97 Gene

UniProtKB/Swiss-Prot Function:
Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cancer cells (PubMed:28559337). Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation (PubMed:23922215, PubMed:25620095). Under investigation for its potential diagnostic and therapeutic uses (PubMed:23922215, PubMed:25620095). May play a role as a regulator of cellular cholesterol homeostasis (PubMed:19583955). May function as sterol isomerase (PubMed:25566323). May alter the activity of some cytochrome P450 proteins (PubMed:22292588).
UniProtKB/Swiss-Prot Induction:
Up-regulated in ovarian surface epithelial (OSE) cells with progesterone.

Phenotypes From GWAS Catalog for TMEM97 Gene

Gene Ontology (GO) - Molecular Function for TMEM97 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19583955
genes like me logo Genes that share ontologies with TMEM97: view
genes like me logo Genes that share phenotypes with TMEM97: view

Animal Models for TMEM97 Gene

MGI Knock Outs for TMEM97:
  • Tmem97 Tmem97<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM97 Gene

Localization for TMEM97 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM97 Gene

Nucleus membrane; Multi-pass membrane protein. Rough endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Localized at cell membrane and in lysosomes in sterol-depleted cells when expression of endogenous TMEM97 is stimulated. {ECO:0000269 PubMed:19583955}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM97 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
lysosome 5
cytosol 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM97 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005764 lysosome IDA 19583955
GO:0005783 endoplasmic reticulum IEA --
GO:0005791 rough endoplasmic reticulum IDA 19583955
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TMEM97: view

Pathways & Interactions for TMEM97 Gene

PathCards logo

SuperPathways for TMEM97 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM97 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 7694637
GO:0042632 cholesterol homeostasis IDA 19583955
genes like me logo Genes that share ontologies with TMEM97: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM97 Gene

Drugs & Compounds for TMEM97 Gene

No Compound Related Data Available

Transcripts for TMEM97 Gene

mRNA/cDNA for TMEM97 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM97 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for TMEM97 Gene

GeneLoc Exon Structure for
TMEM97
ECgene alternative splicing isoforms for
TMEM97

Expression for TMEM97 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM97 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM97 Gene

This gene is overexpressed in Pancreas (x9.3).

Protein differential expression in normal tissues from HIPED for TMEM97 Gene

This gene is overexpressed in Fetal testis (16.5), Islet of Langerhans (15.5), and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM97 Gene



Protein tissue co-expression partners for TMEM97 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM97 Gene:

TMEM97

SOURCE GeneReport for Unigene cluster for TMEM97 Gene:

Hs.199695

mRNA Expression by UniProt/SwissProt for TMEM97 Gene:

Q5BJF2-SGMR2_HUMAN
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).

Evidence on tissue expression from TISSUES for TMEM97 Gene

  • Nervous system(4.8)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with TMEM97: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM97 Gene

Orthologs for TMEM97 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMEM97 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM97 32
  • 99.19 (n)
TMEM220 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM97 33 32
  • 86.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM97 33 32
  • 83.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem97 32
  • 82.63 (n)
mouse
(Mus musculus)
Mammalia Tmem97 17 33 32
  • 81.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 64 (a)
OneToMany
-- 33
  • 61 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TMEM97 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM97 33 32
  • 64.3 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem97 32
  • 60.86 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC569147 32
  • 60.96 (n)
tmem97 33
  • 39 (a)
OneToOne
Dr.26863 32
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
Species where no ortholog for TMEM97 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM97 Gene

ENSEMBL:
Gene Tree for TMEM97 (if available)
TreeFam:
Gene Tree for TMEM97 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM97: view image

Paralogs for TMEM97 Gene

Pseudogenes.org Pseudogenes for TMEM97 Gene

genes like me logo Genes that share paralogs with TMEM97: view

No data available for Paralogs for TMEM97 Gene

Variants for TMEM97 Gene

Sequence variations from dbSNP and Humsavar for TMEM97 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000398493 -- 28,321,281(+) A/G intron_variant
rs1000632515 -- 28,319,976(+) C/T intron_variant
rs1000681513 -- 28,319,664(+) A/G intron_variant
rs1002364531 -- 28,320,842(+) T/C intron_variant
rs1002517369 -- 28,323,512(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM97 Gene

Variant ID Type Subtype PubMed ID
esv3640308 CNV loss 21293372
nsv2017 CNV insertion 18451855
nsv519388 CNV loss 19592680
nsv574653 CNV gain 21841781

Variation tolerance for TMEM97 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM97 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM97

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM97 Gene

Disorders for TMEM97 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM97 Gene - From: DISEASES

Disorder Aliases PubMed IDs
meningioma, familial
  • meningioma, familial, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM97

genes like me logo Genes that share disorders with TMEM97: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM97 Gene

Publications for TMEM97 Gene

  1. Identification of cholesterol-regulating genes by targeted RNAi screening. (PMID: 19583955) Bartz F … Runz H (Cell metabolism 2009) 2 3 4 56
  2. Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancer. (PMID: 18070364) Wilcox CB … Baysal BE (BMC cancer 2007) 3 4 23 56
  3. Expression analysis of MAC30 in human pancreatic cancer and tumors of the gastrointestinal tract. (PMID: 15375745) Kayed H … Friess H (Histology and histopathology 2004) 2 3 4 56
  4. Identification and characterization of genes differentially expressed in meningiomas. (PMID: 7694637) Murphy M … George DL (Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research 1993) 2 3 4 56
  5. Identification of the gene that codes for the σ2 receptor. (PMID: 28559337) Alon A … Kruse AC (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4 56

Products for TMEM97 Gene

Sources for TMEM97 Gene