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Aliases for TMEM127 Gene

Aliases for TMEM127 Gene

  • Transmembrane Protein 127 2 3

External Ids for TMEM127 Gene

Previous GeneCards Identifiers for TMEM127 Gene

  • GC02M096280
  • GC02M096916
  • GC02M090877

Summaries for TMEM127 Gene

Entrez Gene Summary for TMEM127 Gene

  • This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]

GeneCards Summary for TMEM127 Gene

TMEM127 (Transmembrane Protein 127) is a Protein Coding gene. Diseases associated with TMEM127 include tmem127-related susceptibility to pheochromocytoma and renal clear cell carcinoma.

UniProtKB/Swiss-Prot for TMEM127 Gene

  • Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM127 Gene

Genomics for TMEM127 Gene

Regulatory Elements for TMEM127 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMEM127 Gene

Start:
96,248,516 bp from pter
End:
96,266,013 bp from pter
Size:
17,498 bases
Orientation:
Minus strand

Genomic View for TMEM127 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM127 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM127 Gene

Proteins for TMEM127 Gene

  • Protein details for TMEM127 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75204-TM127_HUMAN
    Recommended name:
    Transmembrane protein 127
    Protein Accession:
    O75204
    Secondary Accessions:
    • D3DXH0

    Protein attributes for TMEM127 Gene

    Size:
    238 amino acids
    Molecular mass:
    25842 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Consistent with the observation that mTORC1 signaling regulates cell growth and size in many species, TMEM127 knockdown cells are larger and proliferate at higher rates compared to control cell lines. In contrast, cell proliferation is reduced in cells overexpressing TMEM127 (PubMed:20154675).

neXtProt entry for TMEM127 Gene

Proteomics data for TMEM127 Gene at MOPED

Post-translational modifications for TMEM127 Gene

  • Ubiquitination at Lys25
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM127 Gene

No data available for DME Specific Peptides for TMEM127 Gene

Domains for TMEM127 Gene

Protein Domains for TMEM127 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for TMEM127 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75204

UniProtKB/Swiss-Prot:

TM127_HUMAN :
  • O75204
Family:
  • Belongs to the TMEM127 family.
genes like me logo Genes that share domains with TMEM127: view

No data available for Gene Families for TMEM127 Gene

Function for TMEM127 Gene

Molecular function for TMEM127 Gene

UniProtKB/Swiss-Prot Function: Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.

Gene Ontology (GO) - Molecular Function for TMEM127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0017137 Rab GTPase binding IDA 24334765
genes like me logo Genes that share ontologies with TMEM127: view

Phenotypes for TMEM127 Gene

GenomeRNAi human phenotypes for TMEM127:
genes like me logo Genes that share phenotypes with TMEM127: view

Animal Model Products

CRISPR Products

miRNA for TMEM127 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM127

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMEM127 Gene

Localization for TMEM127 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM127 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Association of TMEM127 with the cell membrane is enhanced by inhibition of endocytosis. In the cytoplasm, it colocalizes with markers of early endosomal structures, Golgi apparatus and lysosomes. {ECO:0000269 PubMed:20154675, ECO:0000269 PubMed:21156949}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM127 Gene COMPARTMENTS Subcellular localization image for TMEM127 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMEM127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20154675
GO:0005769 early endosome IDA 24334765
GO:0005886 plasma membrane IDA 20154675
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM127: view

Pathways for TMEM127 Gene

SuperPathways for TMEM127 Gene

No Data Available

Interacting Proteins for TMEM127 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000258439%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000385269%0d%0a
Selected Interacting proteins: ENSP00000258439 for TMEM127 Gene via STRING

Gene Ontology (GO) - Biological Process for TMEM127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007032 endosome organization IEA --
GO:0008285 negative regulation of cell proliferation IMP 20154675
GO:0032006 regulation of TOR signaling --
GO:0032007 negative regulation of TOR signaling IMP 20154675
genes like me logo Genes that share ontologies with TMEM127: view

No data available for Pathways by source for TMEM127 Gene

Transcripts for TMEM127 Gene

Unigene Clusters for TMEM127 Gene

Transmembrane protein 127:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM127

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM127 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - - -
SP6: -
SP7: - -

Relevant External Links for TMEM127 Gene

GeneLoc Exon Structure for
TMEM127
ECgene alternative splicing isoforms for
TMEM127

Expression for TMEM127 Gene

mRNA expression in normal human tissues for TMEM127 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM127 Gene

SOURCE GeneReport for Unigene cluster for TMEM127 Gene Hs.164303

mRNA Expression by UniProt/SwissProt for TMEM127 Gene

O75204-TM127_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with TMEM127: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMEM127 Gene

Orthologs for TMEM127 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM127 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM127 35
  • 99.3 (n)
  • 100 (a)
TMEM127 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM127 35
  • 91.04 (n)
  • 99.58 (a)
TMEM127 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM127 35
  • 92.58 (n)
  • 100 (a)
TMEM127 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem127 35
  • 90.06 (n)
  • 98.74 (a)
Tmem127 16
Tmem127 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM127 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem127 35
  • 89.64 (n)
  • 99.16 (a)
chicken
(Gallus gallus)
Aves TMEM127 35
  • 83.13 (n)
  • 95.68 (a)
lizard
(Anolis carolinensis)
Reptilia TMEM127 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1183 35
tmem127 35
  • 75.93 (n)
  • 89.81 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem127 35
  • 76.19 (n)
  • 87.1 (a)
tmem127 36
  • 85 (a)
OneToOne
Species with no ortholog for TMEM127:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 TMEM127 Gene

ENSEMBL:
Gene Tree for TMEM127 (if available)
TreeFam:
Gene Tree for TMEM127 (if available)

Paralogs for TMEM127 Gene

No data available for Paralogs for TMEM127 Gene

Variants for TMEM127 Gene

Sequence variations from dbSNP and Humsavar for TMEM127 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs7058 -- 96,251,850(+) GTCAT(G/T)TACAG utr-variant-3-prime
rs15005 -- 96,251,821(+) GTTCC(A/G/T)GATCG utr-variant-3-prime
rs1061578 -- 96,252,389(-) AGATG(C/G)CCAAC utr-variant-3-prime
rs1138984 -- 96,251,296(-) aggtt(A/G)tccac utr-variant-3-prime
rs3770239 -- 96,252,507(+) GCAAG(A/G)AAGTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM127 Gene

Variant ID Type Subtype PubMed ID
dgv650e201 CNV Deletion 23290073
esv5003 CNV Complex 18987735
nsv874677 CNV Loss 21882294
nsv834305 CNV Gain 17160897
nsv874679 CNV Gain 21882294

Relevant External Links for TMEM127 Gene

HapMap Linkage Disequilibrium report
TMEM127
Human Gene Mutation Database (HGMD)
TMEM127

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM127 Gene

Disorders for TMEM127 Gene

(1) OMIM Diseases for TMEM127 Gene (613403)

UniProtKB/Swiss-Prot

TM127_HUMAN
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:20154675, ECO:0000269 PubMed:21156949}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TMEM127 Gene

Relevant External Links for TMEM127

Genetic Association Database (GAD)
TMEM127
Human Genome Epidemiology (HuGE) Navigator
TMEM127
genes like me logo Genes that share disorders with TMEM127: view

Publications for TMEM127 Gene

  1. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (PMID: 20154675) Qin Y. … Dahia P.L. (Nat. Genet. 2010) 3 4 48
  2. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. (PMID: 21156949) Yao L. … Dahia P.L. (JAMA 2010) 3 4 48
  3. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 2 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TMEM127 Gene

  • antibodies-online peptides for TMEM127
  • antibodies-online antibodies for TMEM127
  • antibodies-online kits for TMEM127

Sources for TMEM127 Gene

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