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. Alter... See more...

Aliases for TMEM127 Gene

Aliases for TMEM127 Gene

  • Transmembrane Protein 127 2 3 4 5
  • FLJ20507 2
  • FLJ22257 2
  • TMEM127 5

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 Pheochromocytoma and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM127 Gene

Genomics for TMEM127 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM127 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM127 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM127

Top Transcription factor binding sites by QIAGEN in the TMEM127 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E4BP4
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for TMEM127 Gene

Genomic Locations for TMEM127 Gene
chr2:96,248,514-96,265,997
(GRCh38/hg38)
Size:
17,484 bases
Orientation:
Minus strand
chr2:96,914,254-96,931,751
(GRCh37/hg19)
Size:
17,498 bases
Orientation:
Minus strand

Genomic View for TMEM127 Gene

Genes around TMEM127 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM127 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for TMEM127 Gene

Gene Families for TMEM127 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TMEM127 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM127 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 127 (TM127_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75204

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for TMEM127 Gene

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

Human Phenotype Ontology for TMEM127 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM127 Gene

MGI Knock Outs for TMEM127:

Animal Model Products

CRISPR Products

miRNA for TMEM127 Gene

miRTarBase miRNAs that target TMEM127

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM127

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 TMEM127 gene
Compartment Confidence
plasma membrane 5
endosome 5
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMEM127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 20154675
GO:0005769 early endosome IDA 24334765
GO:0005886 plasma membrane IEA,IDA 20154675
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM127: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM127 Gene

Pathways & Interactions for TMEM127 Gene

PathCards logo

SuperPathways for TMEM127 Gene

No Data Available

Interacting Proteins for TMEM127 Gene

Selected Interacting proteins: O75204-TM127_HUMAN for TMEM127 Gene via IID

Symbol External ID(s) Details
ELAVL1

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 IEA,IMP 20154675
GO:0032006 regulation of TOR signaling IEA,IBA 21873635
GO:0032007 negative regulation of TOR signaling IEA,IMP 20154675
genes like me logo Genes that share ontologies with TMEM127: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM127 Gene

Drugs & Compounds for TMEM127 Gene

No Compound Related Data Available

Transcripts for TMEM127 Gene

mRNA/cDNA for TMEM127 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 TMEM127

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

Expression for TMEM127 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM127 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM127 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM127

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.

Evidence on tissue expression from TISSUES for TMEM127 Gene

  • Nervous system(4.1)
  • Adrenal gland(3.3)
  • Thyroid gland(2.6)
  • Kidney(2.4)
  • Blood(2.3)
  • Heart(2.3)
  • Liver(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM127 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with TMEM127: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners 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 30 31
  • 99.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM127 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM127 30 31
  • 92.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM127 30 31
  • 91.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem127 30 17 31
  • 90.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem127 30
  • 89.64 (n)
Chicken
(Gallus gallus)
Aves TMEM127 30
  • 83.13 (n)
Lizard
(Anolis carolinensis)
Reptilia TMEM127 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem127 30
  • 75.93 (n)
Str.1183 30
Zebrafish
(Danio rerio)
Actinopterygii tmem127 30 31
  • 76.19 (n)
OneToOne
Species where no ortholog for TMEM127 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 TMEM127 Gene

ENSEMBL:
Gene Tree for TMEM127 (if available)
TreeFam:
Gene Tree for TMEM127 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM127: view image

Paralogs for TMEM127 Gene

No data available for Paralogs for TMEM127 Gene

Variants for TMEM127 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM127 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
639242 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,254,063(-) G/C MISSENSE_VARIANT
639331 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,254,899(-) C/T MISSENSE_VARIANT
639636 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,255,007(-) G/C INTRON_VARIANT
639809 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,254,860(-) G/A MISSENSE_VARIANT
640435 Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,254,834(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM127 Gene

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

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591652 OTHER inversion 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv834305 CNV gain 17160897

Variation tolerance for TMEM127 Gene

Residual Variation Intolerance Score: 54.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM127 Gene

Human Gene Mutation Database (HGMD)
TMEM127
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM127

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

Disorders for TMEM127 Gene

MalaCards: The human disease database

(21) MalaCards diseases for TMEM127 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pheochromocytoma
  • pcc
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
inherited cancer-predisposing syndrome
  • hereditary cancer-predisposing syndrome
paraganglioma
  • chemodectoma
clear cell renal cell carcinoma
  • clear cell carcinoma of kidney
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for TMEM127

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TMEM127: view

No data available for Genatlas for TMEM127 Gene

Publications for TMEM127 Gene

  1. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (PMID: 20154675) Qin Y … Dahia PL (Nature genetics 2010) 3 4 41
  2. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. (PMID: 21156949) Yao L … Dahia PL (JAMA 2010) 3 4 41
  3. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 2 3 4
  4. The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules. (PMID: 32526160) Alix E … Holden DW (Cell host & microbe 2020) 2 3
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

Products for TMEM127 Gene

Sources for TMEM127 Gene