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Aliases for TMEM117 Gene

Aliases for TMEM117 Gene

  • Transmembrane Protein 117 2 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.

Gene Wiki entry for TMEM117 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM117 Gene

Genomics for TMEM117 Gene

Regulatory Elements for TMEM117 Gene

Genomic Location for TMEM117 Gene

Chromosome:
12
Start:
43,795,764 bp from pter
End:
44,437,808 bp from pter
Size:
642,045 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

Proteomics data for TMEM117 Gene at MOPED

Post-translational modifications for TMEM117 Gene

  • Glycosylation at Asn 353 and Asn 371
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM117 Gene

No data available for DME Specific Peptides for TMEM117 Gene

Domains & Families for TMEM117 Gene

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

No data available for Gene Families for TMEM117 Gene

Function for TMEM117 Gene

genes like me logo Genes that share phenotypes with TMEM117: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM117

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM117 Gene COMPARTMENTS Subcellular localization image for TMEM117 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for TMEM117 Gene

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

None

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:

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 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



SOURCE GeneReport for Unigene cluster for TMEM117 Gene Hs.444668

genes like me logo Genes that share expression patterns with TMEM117: view

Protein tissue co-expression partners for TMEM117 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia TMEM117 35
  • 92.8 (n)
  • 97.28 (a)
TMEM117 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM117 35
  • 93.77 (n)
  • 97.86 (a)
TMEM117 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem117 35
  • 88.52 (n)
  • 95.91 (a)
Tmem117 16
Tmem117 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM117 35
  • 99.74 (n)
  • 100 (a)
TMEM117 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem117 35
  • 88.52 (n)
  • 95.91 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM117 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM117 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM117 35
  • 79.83 (n)
  • 85.66 (a)
TMEM117 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM117 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18932 35
tmem117 35
  • 78.5 (n)
  • 84.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18940 35
zebrafish
(Danio rerio)
Actinopterygii Dr.9057 35
tmem117 35
  • 70.33 (n)
  • 76.68 (a)
tmem117 36
  • 69 (a)
OneToMany
TMEM117 (1 of 2) 36
  • 60 (a)
OneToMany
Species with no ortholog for TMEM117:
  • 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)

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 Sequence Context AA Info Type
rs1948516 - 43,844,920(+) TCAGC(A/G)TTTGT reference, synonymous-codon, missense, utr-variant-5-prime
rs941262 -- 44,375,260(+) AAATT(A/G)CCTGT intron-variant
rs751921 -- 44,401,223(-) cttct(G/T)cttgg intron-variant
rs1012222 -- 44,364,348(+) TACCA(A/C)CTTCA intron-variant
rs963095 -- 44,170,758(-) ataaa(A/C)agtta intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899048 CNV Gain 21882294
esv2662955 CNV Deletion 23128226
esv2672307 CNV Deletion 23128226
esv269807 CNV Insertion 20981092
nsv526719 CNV Loss 19592680
nsv832390 CNV Gain 17160897
nsv832391 CNV Loss 17160897
esv21749 CNV Gain 19812545
nsv522314 CNV Loss 19592680
esv2581992 CNV Insertion 19546169
esv269584 CNV Insertion 20981092
esv273024 CNV Insertion 20981092
nsv832393 CNV Gain 17160897
esv2670553 CNV Deletion 23128226
esv24558 CNV Loss 19812545
nsv686 CNV Loss 18451855
esv269642 CNV Insertion 20981092
esv2599381 CNV Deletion 19546169
esv2676940 CNV Deletion 23128226
esv26295 CNV Loss 19812545
nsv520635 CNV Loss 19592680
esv2745829 CNV Deletion 23290073
nsv826356 CNV Loss 20364138

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)

Relevant External Links for TMEM117 Gene

HapMap Linkage Disequilibrium report
TMEM117

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

Disorders for TMEM117 Gene

Relevant External Links for TMEM117

Genetic Association Database (GAD)
TMEM117
Human Genome Epidemiology (HuGE) Navigator
TMEM117
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM117

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. Towards 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 Res. 2001) 2 3 4 67
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  3. 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 S.D. … Anand S. (Diabetes Care 2010) 3
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for TMEM117 Gene

Sources for TMEM117 Gene

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