Aliases for TMEM116 Gene

Aliases for TMEM116 Gene

  • Transmembrane Protein 116 2 3 4 5
  • FLJ90167 2
  • TMEM116 5

External Ids for TMEM116 Gene

Previous GeneCards Identifiers for TMEM116 Gene

  • GC12M110832
  • GC12M112369
  • GC12M109382

Summaries for TMEM116 Gene

GeneCards Summary for TMEM116 Gene

TMEM116 (Transmembrane Protein 116) is a Protein Coding gene. An important paralog of this gene is GPR157.

Additional gene information for TMEM116 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM116 Gene

Genomics for TMEM116 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM116 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
GH12J112011 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 627.9 -0.3 -344 4.3 RNF2 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 TMEM116 ERP29 lnc-NAA25-5 RPL6 MAPKAPK5 HECTD4 ADAM1A NAA25 HSPA8P14 TRAFD1
GH12J112005 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 627.6 +7.4 7401 1.2 PRDM10 ZNF512 LEF1 IKZF1 JUND PRDM1 MTA2 PKNOX1 MTA1 NR2C1 TMEM116 TRAFD1 LOC724085 lnc-NAA25-5 MAPKAPK5
GH12J112124 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 37.5 -115.1 -115082 8.2 SP1 CREB1 ZNF629 IKZF1 ZNF692 POLR2A BACH1 FOS JUND FOXA1 TRAFD1 TMEM116 MAPKAPK5 ADAM1A NAA25 ERP29 MN309607 HECTD4
GH12J112106 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 26.9 -95.6 -95579 4.6 GATAD2A PRDM10 RFX1 IKZF1 POLR2A BACH1 FOXA1 LARP7 PRDM1 ZNF143 NAA25 lnc-HECTD4-2 lnc-TRAFD1-2 TMEM116 ADAM1A ERP29
GH12J111991 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 27.6 +19.5 19482 4.1 SP1 RFX1 LEF1 IKZF1 ZNF692 BACH1 FOXA1 MTA2 RELA MTA1 SLC25A3P2 lnc-ERP29-2 TMEM116 ADAM1A ALDH2 ENSG00000257624 lnc-NAA25-1 lnc-NAA25-5 MAPKAPK5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM116 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM116

Top Transcription factor binding sites by QIAGEN in the TMEM116 gene promoter:
  • AML1a
  • Cdc5
  • E47
  • En-1
  • FOXO4
  • GATA-3
  • MyoD
  • Pbx1a
  • POU3F1
  • POU3F2 (N-Oct-5a)

Genomic Locations for TMEM116 Gene

Genomic Locations for TMEM116 Gene
chr12:111,894,880-112,013,219
(GRCh38/hg38)
Size:
118,340 bases
Orientation:
Minus strand
chr12:112,369,086-112,451,023
(GRCh37/hg19)
Size:
81,938 bases
Orientation:
Minus strand

Genomic View for TMEM116 Gene

Genes around TMEM116 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM116 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM116 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM116 Gene

Proteins for TMEM116 Gene

  • Protein details for TMEM116 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCL8-TM116_HUMAN
    Recommended name:
    Transmembrane protein 116
    Protein Accession:
    Q8NCL8
    Secondary Accessions:
    • G3V1W7
    • G5E985
    • Q6NSH5
    • Q8IZ66

    Protein attributes for TMEM116 Gene

    Size:
    245 amino acids
    Molecular mass:
    27464 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM116 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM116 Gene

Post-translational modifications for TMEM116 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM116 Gene

Domains & Families for TMEM116 Gene

Gene Families for TMEM116 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM116 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for TMEM116 Gene

GenScript: Design optimal peptide antigens:
  • TMEM116 protein (Q9BWF8_HUMAN)
  • Transmembrane protein 116 (TM116_HUMAN)
genes like me logo Genes that share domains with TMEM116: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM116 Gene

Function for TMEM116 Gene

Phenotypes From GWAS Catalog for TMEM116 Gene

Gene Ontology (GO) - Molecular Function for TMEM116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM116: view
genes like me logo Genes that share phenotypes with TMEM116: view

Animal Models for TMEM116 Gene

MGI Knock Outs for TMEM116:
  • Tmem116 Tmem116<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for TMEM116 Gene

miRTarBase miRNAs that target TMEM116

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM116

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM116 Gene

Localization for TMEM116 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM116 Gene

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 TMEM116 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM116: view

Pathways & Interactions for TMEM116 Gene

PathCards logo

SuperPathways for TMEM116 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM116: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM116 Gene

Drugs & Compounds for TMEM116 Gene

No Compound Related Data Available

Transcripts for TMEM116 Gene

mRNA/cDNA for TMEM116 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM116

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM116 Gene

No ASD Table

Relevant External Links for TMEM116 Gene

GeneLoc Exon Structure for
TMEM116

Expression for TMEM116 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM116 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM116 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM116

SOURCE GeneReport for Unigene cluster for TMEM116 Gene:

Hs.506815

Evidence on tissue expression from TISSUES for TMEM116 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with TMEM116: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM116 Gene

Orthologs for TMEM116 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM116 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM116 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM116 30 31
  • 88.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM116 30 31
  • 83.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem116 30 17 31
  • 78.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem116 30
  • 77.24 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMEM116 31
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM116 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM116 30 31
  • 63.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM116 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487315 30
  • 54.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-157p22.10 30
  • 53.4 (n)
TMEM116 31
  • 40 (a)
OneToOne
Species where no ortholog for TMEM116 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 TMEM116 Gene

ENSEMBL:
Gene Tree for TMEM116 (if available)
TreeFam:
Gene Tree for TMEM116 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM116: view image

Paralogs for TMEM116 Gene

Paralogs for TMEM116 Gene

genes like me logo Genes that share paralogs with TMEM116: view

Variants for TMEM116 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM116 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs3752630 - p.Cys22Gly

Additional dbSNP identifiers (rs#s) for TMEM116 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM116 Gene

Variant ID Type Subtype PubMed ID
esv2746360 CNV deletion 23290073
esv3630772 CNV loss 21293372
nsv1044606 CNV gain 25217958
nsv1045310 CNV gain 25217958
nsv887 CNV deletion 18451855

Variation tolerance for TMEM116 Gene

Residual Variation Intolerance Score: 65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.46; 64.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM116 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM116

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM116 Gene

Disorders for TMEM116 Gene

No disorders were found for TMEM116 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM116 Gene

Publications for TMEM116 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3

Products for TMEM116 Gene

Sources for TMEM116 Gene