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Aliases for TMEM117 Gene

Aliases for TMEM117 Gene

  • Transmembrane Protein 117 2 3 3 5

External Ids for TMEM117 Gene

Previous GeneCards Identifiers for TMEM117 Gene

  • GC12P042517
  • GC12P044229
  • GC12P041258

Summaries for TMEM117 Gene

GeneCards Summary for TMEM117 Gene

TMEM117 (Transmembrane Protein 117) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TMEM117 Gene

  • Involved in endoplasmic reticulum (ER) stress-induced cell death pathway.

Gene Wiki entry for TMEM117 Gene

Additional gene information for TMEM117 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM117 Gene

Genomics for TMEM117 Gene

GeneHancer (GH) Regulatory Elements for TMEM117 Gene

Promoters and enhancers for TMEM117 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J043835 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.6 +40.6 40630 2 ATF1 FOXA2 SMAD1 SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF213 ZNF143 TMEM117 TWF1 GC12M044008
GH12J043795 Enhancer 0.7 ENCODE 650.7 +0.4 430 0.9 NCOA3 ESRRA FOXA2 NEUROD1 FEZF1 CEBPG BMI1 CTBP1 GATA3 NR2F6 TMEM117 PUS7L IRAK4 TWF1
GH12J043804 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5.1 +10.5 10453 2.8 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 ZNF207 TWF1 IRAK4 PUS7L TMEM117
GH12J043846 Enhancer 0.7 ENCODE 11.3 +52.4 52358 2.5 SOX13 KLF1 PKNOX1 JUN ZNF133 RARA CTBP1 GATA3 NR2F6 ZNF444 TMEM117 IRAK4 TWF1 GC12M044008
GH12J043882 Enhancer 0.6 ENCODE 11.3 +87.0 86989 0.2 CTCF IRF2 ZNF654 ZNF362 TRIM22 REST RAD21 ZNF664 ATF3 KLF16 TMEM117 TWF1 IRAK4 PUS7L GC12M044008
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM117 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM117 gene promoter:
  • Sox5
  • Meis-1b
  • Meis-1a
  • Meis-1
  • Cart-1
  • C/EBPalpha
  • AML1a
  • NF-kappaB1
  • LCR-F1
  • Olf-1

Genomic Locations for TMEM117 Gene

Genomic Locations for TMEM117 Gene
chr12:43,795,764-44,437,808
(GRCh38/hg38)
Size:
642,045 bases
Orientation:
Plus strand
chr12:44,229,770-44,783,545
(GRCh37/hg19)
Size:
553,776 bases
Orientation:
Plus strand

Genomic View for TMEM117 Gene

Genes around TMEM117 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM117 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM117 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM117 Gene

Proteins for TMEM117 Gene

  • Protein details for TMEM117 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0C3-TM117_HUMAN
    Recommended name:
    Transmembrane protein 117
    Protein Accession:
    Q9H0C3

    Protein attributes for TMEM117 Gene

    Size:
    514 amino acids
    Molecular mass:
    60185 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM117 Gene

Post-translational modifications for TMEM117 Gene

  • Glycosylation at isoforms=371 and isoforms=353
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM117 Gene

Domains & Families for TMEM117 Gene

Gene Families for TMEM117 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM117 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM117 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0C3

UniProtKB/Swiss-Prot:

TM117_HUMAN :
  • Belongs to the TMEM117 family.
Family:
  • Belongs to the TMEM117 family.
genes like me logo Genes that share domains with TMEM117: view

Function for TMEM117 Gene

Molecular function for TMEM117 Gene

UniProtKB/Swiss-Prot Function:
Involved in endoplasmic reticulum (ER) stress-induced cell death pathway.

Phenotypes From GWAS Catalog for TMEM117 Gene

Gene Ontology (GO) - Molecular Function for TMEM117 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM117: view
genes like me logo Genes that share phenotypes with TMEM117: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM117

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM117 Gene

Localization for TMEM117 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM117 Gene

Cell membrane; Multi-pass membrane protein.

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 TMEM117 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Nucleoli (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM117 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane IEA,IDA 27391701
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM117: view

Pathways & Interactions for TMEM117 Gene

SuperPathways for TMEM117 Gene

No Data Available

Interacting Proteins for TMEM117 Gene

Gene Ontology (GO) - Biological Process for TMEM117 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP 28285135
genes like me logo Genes that share ontologies with TMEM117: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM117 Gene

Drugs & Compounds for TMEM117 Gene

No Compound Related Data Available

Transcripts for TMEM117 Gene

Unigene Clusters for TMEM117 Gene

Transmembrane protein 117:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM117 Gene

No ASD Table

Relevant External Links for TMEM117 Gene

GeneLoc Exon Structure for
TMEM117
ECgene alternative splicing isoforms for
TMEM117

Expression for TMEM117 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM117 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM117 Gene

This gene is overexpressed in Breast (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM117 Gene



Protein tissue co-expression partners for TMEM117 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM117 Gene:

TMEM117

SOURCE GeneReport for Unigene cluster for TMEM117 Gene:

Hs.444668

Evidence on tissue expression from TISSUES for TMEM117 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with TMEM117: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM117 Gene

Orthologs for TMEM117 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM117 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM117 34 33
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM117 34 33
  • 93.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM117 34 33
  • 92.8 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM117 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem117 16 34 33
  • 88.52 (n)
rat
(Rattus norvegicus)
Mammalia Tmem117 33
  • 88.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM117 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM117 34 33
  • 79.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM117 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem117 33
  • 78.5 (n)
Str.18932 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18940 33
zebrafish
(Danio rerio)
Actinopterygii tmem117 34 33
  • 70.33 (n)
OneToMany
TMEM117 (1 of 2) 34
  • 60 (a)
OneToMany
Dr.9057 33
Species where no ortholog for TMEM117 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 TMEM117 Gene

ENSEMBL:
Gene Tree for TMEM117 (if available)
TreeFam:
Gene Tree for TMEM117 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM117: view image

Paralogs for TMEM117 Gene

No data available for Paralogs for TMEM117 Gene

Variants for TMEM117 Gene

Sequence variations from dbSNP and Humsavar for TMEM117 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000016031 -- 44,194,105(+) A/T intron_variant
rs1000020414 -- 43,851,996(+) T/C intron_variant
rs1000027186 -- 44,176,963(+) T/C intron_variant
rs1000030421 -- 44,197,802(+) T/C intron_variant
rs1000030447 -- 44,069,262(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM117 Gene

Variant ID Type Subtype PubMed ID
esv21749 CNV gain 19812545
esv24558 CNV loss 19812545
esv2581992 CNV insertion 19546169
esv2599381 CNV deletion 19546169
esv26295 CNV loss 19812545
esv2662955 CNV deletion 23128226
esv2670553 CNV deletion 23128226
esv2672307 CNV deletion 23128226
esv2676940 CNV deletion 23128226
esv2745829 CNV deletion 23290073
esv3305306 CNV mobile element insertion 20981092
esv3305364 CNV mobile element insertion 20981092
esv3305530 CNV mobile element insertion 20981092
esv3308751 CNV mobile element insertion 20981092
esv3355990 CNV insertion 20981092
esv3359703 CNV insertion 20981092
esv3412554 CNV insertion 20981092
esv3423663 CNV insertion 20981092
esv3580248 CNV loss 25503493
esv3580251 CNV loss 25503493
esv3629354 CNV loss 21293372
esv3629355 CNV loss 21293372
esv3629359 CNV loss 21293372
esv3629363 CNV loss 21293372
esv3629365 CNV gain 21293372
esv3629366 CNV loss 21293372
esv3629367 CNV loss 21293372
nsv1049818 CNV gain 25217958
nsv1051285 CNV loss 25217958
nsv1070107 CNV deletion 25765185
nsv1070529 CNV deletion 25765185
nsv1118234 CNV deletion 24896259
nsv1145598 CNV deletion 24896259
nsv477194 CNV novel sequence insertion 20440878
nsv520635 CNV loss 19592680
nsv522314 CNV loss 19592680
nsv526719 CNV loss 19592680
nsv686 CNV deletion 18451855
nsv826356 CNV loss 20364138
nsv832390 CNV gain 17160897
nsv832391 CNV loss 17160897
nsv832393 CNV gain 17160897

Variation tolerance for TMEM117 Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM117 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM117

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM117 Gene

Disorders for TMEM117 Gene

Additional Disease Information for TMEM117

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TMEM117 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM117 Gene

Publications for TMEM117 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  2. A novel transmembrane protein defines the endoplasmic reticulum stress-induced cell death pathway. (PMID: 28285135) Tamaki T … Sugiyama T (Biochemical and biophysical research communications 2017) 3 4 58
  3. Intrinsic Disorder in Transmembrane Proteins: Roles in Signaling and Topology Prediction. (PMID: 27391701) Bürgi J … van der Goot FG (PloS one 2016) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for TMEM117 Gene

Sources for TMEM117 Gene

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