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Aliases for TMEM97 Gene

Aliases for TMEM97 Gene

  • Transmembrane Protein 97 2 3 5
  • Meningioma-Associated Protein 30 3 4
  • MAC30 3 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 for TMEM97 Gene

  • Plays a role as a regulator of cellular cholesterol homeostasis (PubMed:19583955). May function as sterol isomerase (PubMed:25566323).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM97 Gene

Genomics for TMEM97 Gene

Regulatory Elements for TMEM97 Gene

Enhancers for TMEM97 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G028333 1.4 ENCODE dbSUPER 12.3 +17.8 17772 5.9 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ITM2BP1 RPL23A TMEM97 NEK8 POLDIP2 NUFIP2 ENSG00000264577 ENSG00000265474 VTN TNFAIP1
GH17G028317 1.1 ENCODE 14 +0.3 274 3.7 HDGF MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 TMEM97 SLC46A1 VTN TMEM199 TRAF4 GC17M028812
GH17G028282 1.1 Ensembl ENCODE 12.1 -36.2 -36201 1.8 INSM2 ZNF366 FOS EGR2 ZNF280D ZNF174 ZNF362 ZEB2 ZNF518A PRDM6 TMEM97 POLDIP2 SARM1 PIRC93 PIR58208 GC17M028906
GH17G028250 1.2 Ensembl ENCODE 4.7 -67.6 -67566 1.7 PKNOX1 ATF1 ARNT SIN3A ZNF2 ZNF143 ZNF263 REST ZNF579 SREBF1 POLDIP2 TMEM97 LOC105371712 GC17M028252
GH17G028403 1.1 ENCODE 5.1 +87.3 87326 5.1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF548 ZNF263 ENSG00000264044 NUFIP2 NEK8 ENSG00000264577 ENSG00000265474 POLDIP2 ITM2BP1 TMEM97 NOS2 ENSG00000265254
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM97 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM97 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092701 205 1801 HDGF MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for TMEM97 Gene

Chromosome:
17
Start:
28,319,095 bp from pter
End:
28,328,685 bp from pter
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-TMM97_HUMAN
    Recommended name:
    Transmembrane protein 97
    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.
    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 posLast=130130
  • 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

Protein Domains for TMEM97 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM97 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5BJF2

UniProtKB/Swiss-Prot:

TMM97_HUMAN :
  • Belongs to the TMEM97 family.
Family:
  • Belongs to the TMEM97 family.
genes like me logo Genes that share domains with TMEM97: view

No data available for Gene Families for TMEM97 Gene

Function for TMEM97 Gene

Molecular function for TMEM97 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a regulator of cellular cholesterol homeostasis (PubMed:19583955). May function as sterol isomerase (PubMed:25566323).
UniProtKB/Swiss-Prot Induction:
Up-regulated in ovarian surface epithelial (OSE) cells with progesterone.

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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for TMEM97 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM97 Gene

Nucleus membrane. Rough endoplasmic reticulum. Cell membrane. Lysosome. Membrane; Multi-pass membrane protein. Note=Localized in sterol-depleted cells at cell membrane and in lysosomes. {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
cytosol 5
lysosome 5
peroxisome 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TMEM97 Gene

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

Pathways & Interactions for TMEM97 Gene

SuperPathways for TMEM97 Gene

No Data Available

Interacting Proteins for TMEM97 Gene

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

Unigene Clusters for TMEM97 Gene

Transmembrane protein 97:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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, PaxDb, 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-TMM97_HUMAN
Tissue specificity: Widely expressed in normal tissues. Expressed in pancreatic, renal, breast, colon, ovarian surface epithelial (OSE) cells and meningioma cancers. Expressed in ovarian cancer; expression is reduced relative to OSE cells.

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

Primer Products

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 34
  • 99.19 (n)
TMEM220 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM97 34 35
  • 86.26 (n)
cow
(Bos Taurus)
Mammalia TMEM97 34 35
  • 83.52 (n)
rat
(Rattus norvegicus)
Mammalia Tmem97 34
  • 82.63 (n)
mouse
(Mus musculus)
Mammalia Tmem97 34 16 35
  • 81.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TMEM97 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM97 34 35
  • 64.3 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem97 34
  • 60.86 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC569147 34
  • 60.96 (n)
tmem97 35
  • 39 (a)
OneToOne
Dr.26863 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
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)

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 Sequence Context AA Info Type
rs1000398493 -- 28,321,281(+) ACTCC(A/G)TGTAG intron-variant
rs1000632515 -- 28,319,976(+) AAAAT(C/T)CCGAT intron-variant
rs1000681513 -- 28,319,664(+) AGGGA(A/G)GTAGT intron-variant
rs1002364531 -- 28,320,842(+) CTGCT(C/T)CGGGT intron-variant
rs1002517369 -- 28,323,512(+) TGCAA(C/T)CTCAG 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)

Relevant External Links 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 and GeneCards

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

Relevant External Links for TMEM97

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Metab. 2009) 2 3 4 64
  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 C.B. … Baysal B.E. (BMC Cancer 2007) 3 4 22 64
  3. Expression analysis of MAC30 in human pancreatic cancer and tumors of the gastrointestinal tract. (PMID: 15375745) Kayed H. … Friess H. (Histol. Histopathol. 2004) 2 3 4 64
  4. Identification and characterization of genes differentially expressed in meningiomas. (PMID: 7694637) Murphy M. … George D.L. (Cell Growth Differ. 1993) 2 3 4 64
  5. Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. (PMID: 27378690) Ebrahimi-Fakhari D. … Runz H. (Hum. Mol. Genet. 2016) 2 3 64

Products for TMEM97 Gene

Sources for TMEM97 Gene

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