Aliases for TMEM100 Gene

Aliases for TMEM100 Gene

  • Transmembrane Protein 100 2 3 4 5

External Ids for TMEM100 Gene

Previous GeneCards Identifiers for TMEM100 Gene

  • GC17M051152
  • GC17M053796
  • GC17M049156

Summaries for TMEM100 Gene

GeneCards Summary for TMEM100 Gene

TMEM100 (Transmembrane Protein 100) is a Protein Coding gene. An important paralog of this gene is PIRT.

UniProtKB/Swiss-Prot Summary for TMEM100 Gene

  • Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex.

Additional gene information for TMEM100 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM100 Gene

Genomics for TMEM100 Gene

GeneHancer (GH) Regulatory Elements for TMEM100 Gene

Promoters and enhancers for TMEM100 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
GH17J055722 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.4 +8.5 8496 4 ZBTB40 SMARCE1 ZNF362 ZNF384 MLLT1 ZSCAN21 SMARCA4 PRDM1 IKZF1 PKNOX1 TMEM100 lnc-SMIM36-8 piR-36546
GH17J055730 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 0.0 -45 2.5 HLF L3MBTL2 RAD21 SP1 ZNF384 SP7 PRDM1 PKNOX1 ZIC2 RXRA TMEM100 lnc-SMIM36-8 PCTP
GH17J055736 Promoter/Enhancer 1.2 Ensembl CraniofacialAtlas dbSUPER 750.6 -1.9 -1899 0.8 ZNF652 SP1 ZNF148 NCOA6 PRDM10 ZNF512 ZNF7 GATAD2B ZNF184 PHB2 TMEM100 PCTP
GH17J055705 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 12.9 +24.8 24820 3.4 MNT SP1 MAFK FOSL2 CREB1 CEBPA CTBP1 FOXA2 ZSCAN5C JUND PCTP TMEM100 piR-36546 lnc-SMIM36-8
GH17J055760 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.1 -30.3 -30280 5.2 FOXA1 NR2F6 CREB1 MIXL1 RAD21 ZNF652 ELF3 SP1 CEBPG TFE3 TMEM100 PCTP piR-43017
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM100 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM100 gene promoter:
  • AML1a
  • c-Myb
  • Gfi-1
  • Ik-1
  • Nkx6-1
  • PPAR-alpha

Genomic Locations for TMEM100 Gene

Genomic Locations for TMEM100 Gene
chr17:55,719,627-55,732,121
(GRCh38/hg38)
Size:
12,495 bases
Orientation:
Minus strand
chr17:53,796,988-53,809,482
(GRCh37/hg19)
Size:
12,495 bases
Orientation:
Minus strand

Genomic View for TMEM100 Gene

Genes around TMEM100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM100 Gene

Proteins for TMEM100 Gene

  • Protein details for TMEM100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NV29-TM100_HUMAN
    Recommended name:
    Transmembrane protein 100
    Protein Accession:
    Q9NV29
    Secondary Accessions:
    • D3DTY7
    • I3L214
    • Q96FZ0

    Protein attributes for TMEM100 Gene

    Size:
    134 amino acids
    Molecular mass:
    14386 Da
    Quaternary structure:
    • Interacts (via C-terminus) with TRPA1 and TRPV1.
    SequenceCaution:
    • Sequence=AC009837; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TMEM100 Gene

Post-translational modifications for TMEM100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM100 Gene

No data available for DME Specific Peptides for TMEM100 Gene

Domains & Families for TMEM100 Gene

Gene Families for TMEM100 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM100 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM100 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 100 (TM100_HUMAN)
genes like me logo Genes that share domains with TMEM100: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM100 Gene

Function for TMEM100 Gene

Molecular function for TMEM100 Gene

UniProtKB/Swiss-Prot Function:
Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex.
UniProtKB/Swiss-Prot Induction:
Up-regulated by GDF2/BMP9 and BMP10 (at protein level).

Phenotypes From GWAS Catalog for TMEM100 Gene

Gene Ontology (GO) - Molecular Function for TMEM100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM100: view
genes like me logo Genes that share phenotypes with TMEM100: view

Animal Models for TMEM100 Gene

MGI Knock Outs for TMEM100:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM100 Gene

Localization for TMEM100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM100 Gene

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Perikaryon. Cytoplasm, perinuclear region. Endoplasmic reticulum. Note=Colocalized with HSPA5 in the endoplasmic reticulum (ER). Enriched in ER microsome. Colocalized with BMP4 in neural cell bodies and neural fibers of the enteric nervous system.

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 TMEM100 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 22783020
GO:0005886 plasma membrane IBA,IDA 23485812
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM100: view

Pathways & Interactions for TMEM100 Gene

PathCards logo

SuperPathways for TMEM100 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0003197 endocardial cushion development IEA --
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation IEA --
genes like me logo Genes that share ontologies with TMEM100: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM100 Gene

Drugs & Compounds for TMEM100 Gene

No Compound Related Data Available

Transcripts for TMEM100 Gene

mRNA/cDNA for TMEM100 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM100 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
SP1: - - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -

Relevant External Links for TMEM100 Gene

GeneLoc Exon Structure for
TMEM100
ECgene alternative splicing isoforms for
TMEM100

Expression for TMEM100 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM100 Gene

mRNA differential expression in normal tissues according to GTEx for TMEM100 Gene

This gene is overexpressed in Lung (x14.5).

Protein differential expression in normal tissues from HIPED for TMEM100 Gene

This gene is overexpressed in Cerebral cortex (60.9) and Ovary (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM100 Gene



Protein tissue co-expression partners for TMEM100 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM100 Gene:

TMEM100

SOURCE GeneReport for Unigene cluster for TMEM100 Gene:

Hs.173233

mRNA Expression by UniProt/SwissProt for TMEM100 Gene:

Q9NV29-TM100_HUMAN
Tissue specificity: Expressed in neurons of the myenteric and submucosal plexuses in the gastric body, jejunum and proximal colon. Expressed in arterial endothelial cells and neurons of the central nervous system and peripheral nervous system. Expressed in umbilical artery endothelial cells (at protein level).

Evidence on tissue expression from TISSUES for TMEM100 Gene

  • Lung(2.4)
genes like me logo Genes that share expression patterns with TMEM100: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM100 Gene

Orthologs for TMEM100 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM100 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM100 33 32
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM100 33 32
  • 86.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem100 32
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Tmem100 17 33 32
  • 85.07 (n)
cow
(Bos Taurus)
Mammalia TMEM100 33 32
  • 81.09 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM100 33
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM100 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM100 33 32
  • 72.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM100 33
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem100 32
  • 69.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334742 32
  • 65.42 (n)
TMEM100 (1 of 2) 33
  • 59 (a)
OneToMany
TMEM100 (2 of 2) 33
  • 53 (a)
OneToMany
Species where no ortholog for TMEM100 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)
  • 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 TMEM100 Gene

ENSEMBL:
Gene Tree for TMEM100 (if available)
TreeFam:
Gene Tree for TMEM100 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM100: view image

Paralogs for TMEM100 Gene

Paralogs for TMEM100 Gene

genes like me logo Genes that share paralogs with TMEM100: view

Variants for TMEM100 Gene

Sequence variations from dbSNP and Humsavar for TMEM100 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1001051487 -- 55,728,160(-) G/T genic_upstream_transcript_variant, intron_variant
rs1001216398 -- 55,728,552(-) A/T genic_upstream_transcript_variant, intron_variant
rs1001393538 -- 55,729,726(-) T/A genic_upstream_transcript_variant, intron_variant
rs1002301900 -- 55,723,071(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1002352607 -- 55,722,694(-) C/G/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM100 Gene

Variant ID Type Subtype PubMed ID
nsv2100 CNV deletion 18451855
nsv518015 CNV loss 19592680

Variation tolerance for TMEM100 Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM100 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM100 Gene

Disorders for TMEM100 Gene

Additional Disease Information for TMEM100

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

No disorders were found for TMEM100 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM100 Gene

Publications for TMEM100 Gene

  1. Tmem100 Is a Regulator of TRPA1-TRPV1 Complex and Contributes to Persistent Pain. (PMID: 25640077) Weng HJ … Dong X (Neuron 2015) 2 3 56
  2. Distribution of TMEM100 in the mouse and human gastrointestinal tract--a novel marker of enteric nerves. (PMID: 23485812) Eisenman ST … Farrugia G (Neuroscience 2013) 3 4 56
  3. Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis. (PMID: 22783020) Somekawa S … Saito Y (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 56
  4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 43 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for TMEM100 Gene

Sources for TMEM100 Gene