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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
External Ids for TMEM127 Gene
- HGNC: 26038
- Entrez Gene: 55654
- Ensembl: ENSG00000135956
- OMIM: 613403
- UniProtKB: O75204
Previous GeneCards Identifiers for TMEM127 Gene
- GC02M096280
- GC02M096916
- GC02M090877
Summaries 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.
Additional gene information for TMEM127 Gene
- HGNC(26038)
- Entrez Gene(55654)
- Ensembl(ENSG00000135956)
- OMIM(613403)
- UniProtKB(O75204)
- Open Targets Platform(ENSG00000135956)
- Monarch Initiative
- Search for TMEM127 at DataMed
- Search for TMEM127 at HumanCyc
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:
-
- 2q11.2 by HGNC
- 2q11.2 by Entrez Gene
- 2q11.2 by Ensembl
TMEM127 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for TMEM127 Gene
Post-translational modifications for TMEM127 Gene
Other Protein References for TMEM127 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TMEM127
- Novus Biologicals Antibodies for TMEM127
-
Abcam antibodies for TMEM127
- Invitrogen Antibodies for TMEM127 (AFLGC-TMEM127)
- antibodies-online: Show 3 available TMEM127 Antibodies ranked by validation data
- Compare Top TMEM127 Antibodies
-
Quality Products:
-
Biorbyt antibodies for TMEM127
Protein Products
-
OriGene Purified Proteins for TMEM127
- Search Origene for MassSpec and Protein Over-expression Lysates for TMEM127
- Origene Custom Protein Services for TMEM127
Assay Products
- antibodies-online: Show 3 available TMEM127 Elisa Kits ranked by validation data
- Compare Top TMEM127 Elisa Kits
-
Quality Products:
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
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- Family:
-
- Belongs to the TMEM127 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0017137 | Rab GTPase binding | IDA | 24334765 |
Phenotypes for TMEM127 Gene
- MGI mutant phenotypes for TMEM127:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for TMEM127:
Animal Models for TMEM127 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMEM127 - Select products 50% OFF >
- * TMEM127 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMEM127
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM127
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM127
miRNA for TMEM127 Gene
- miRTarBase miRNAs that target TMEM127
-
- mmu-miR-149-5p (MIRT014454)
- hsa-miR-130b-3p (MIRT020187)
- hsa-miR-93-5p (MIRT027949)
- hsa-miR-769-3p (MIRT039082)
- hsa-miR-99b-5p (MIRT044180)
- hsa-miR-2276-3p (MIRT089858)
- hsa-miR-106b-5p (MIRT439438)
- hsa-miR-20a-5p (MIRT439439)
- hsa-miR-6763-3p (MIRT500754)
- hsa-miR-6081 (MIRT500755)
- hsa-miR-3665 (MIRT500756)
- hsa-miR-1203 (MIRT500757)
- hsa-miR-5587-3p (MIRT500758)
- hsa-miR-4707-5p (MIRT500759)
- hsa-miR-519c-3p (MIRT500760)
- hsa-miR-519b-3p (MIRT500761)
- hsa-miR-519a-3p (MIRT500762)
- hsa-miR-4796-3p (MIRT500763)
- hsa-miR-548ah-5p (MIRT500764)
- hsa-miR-3609 (MIRT500765)
- hsa-miR-526b-3p (MIRT500766)
- hsa-miR-17-5p (MIRT500767)
- hsa-miR-519d-3p (MIRT500768)
- hsa-miR-20b-5p (MIRT500769)
- hsa-miR-106a-5p (MIRT500770)
- hsa-miR-5589-5p (MIRT698324)
- hsa-miR-4731-5p (MIRT698325)
- hsa-miR-6506-5p (MIRT698326)
- hsa-miR-619-5p (MIRT698327)
- hsa-miR-150-5p (MIRT698328)
- hsa-miR-186-3p (MIRT698329)
- hsa-miR-520h (MIRT698330)
- hsa-miR-520g-3p (MIRT698331)
- hsa-miR-512-3p (MIRT698332)
- hsa-miR-3186-5p (MIRT698333)
- hsa-miR-520e (MIRT698334)
- hsa-miR-520d-3p (MIRT698335)
- hsa-miR-520c-3p (MIRT698336)
- hsa-miR-520b (MIRT698337)
- hsa-miR-520a-3p (MIRT698338)
- hsa-miR-373-3p (MIRT698339)
- hsa-miR-372-3p (MIRT698340)
- hsa-miR-302e (MIRT698341)
- hsa-miR-302d-3p (MIRT698342)
- hsa-miR-302c-3p (MIRT698343)
- hsa-miR-302b-3p (MIRT698344)
- hsa-miR-302a-3p (MIRT698345)
- hsa-miR-544a (MIRT698346)
- hsa-miR-1238-3p (MIRT698347)
- hsa-miR-670-3p (MIRT698348)
- hsa-miR-138-2-3p (MIRT698349)
- hsa-miR-449b-3p (MIRT698350)
- hsa-miR-6856-3p (MIRT698351)
- hsa-miR-548s (MIRT698352)
- hsa-miR-4684-5p (MIRT698353)
- hsa-miR-3926 (MIRT698354)
- hsa-miR-3190-5p (MIRT698355)
- hsa-miR-5699-3p (MIRT698356)
- hsa-miR-4421 (MIRT698357)
- hsa-miR-6849-3p (MIRT698358)
- hsa-miR-3613-3p (MIRT698359)
- hsa-miR-10b-5p (MIRT698360)
- hsa-miR-10a-5p (MIRT698361)
- hsa-miR-6732-3p (MIRT698362)
- hsa-miR-548c-3p (MIRT698363)
- hsa-miR-1226-5p (MIRT736136)
- hsa-miR-1321 (MIRT737376)
- hsa-miR-149-3p (MIRT737803)
- hsa-miR-185-3p (MIRT738226)
- hsa-miR-219a-1-3p (MIRT739051)
- hsa-miR-2392 (MIRT739179)
- hsa-miR-2467-3p (MIRT739312)
- hsa-miR-3125 (MIRT740020)
- hsa-miR-3126-5p (MIRT740048)
- hsa-miR-3153 (MIRT740403)
- hsa-miR-3158-5p (MIRT740485)
- hsa-miR-3184-5p (MIRT740885)
- hsa-miR-3678-3p (MIRT742173)
- hsa-miR-3916 (MIRT742916)
- hsa-miR-423-5p (MIRT743282)
- hsa-miR-4311 (MIRT743955)
- hsa-miR-4419a (MIRT744215)
- hsa-miR-4476 (MIRT745054)
- hsa-miR-4493 (MIRT745320)
- hsa-miR-4510 (MIRT745655)
- hsa-miR-4728-5p (MIRT747899)
- hsa-miR-4739 (MIRT748093)
- hsa-miR-4753-5p (MIRT748353)
- hsa-miR-4756-5p (MIRT748465)
- hsa-miR-5010-5p (MIRT749514)
- hsa-miR-5197-3p (MIRT750096)
- hsa-miR-5584-5p (MIRT750976)
- hsa-miR-558 (MIRT751057)
- hsa-miR-6077 (MIRT751726)
- hsa-miR-6085 (MIRT751815)
- hsa-miR-6127 (MIRT752129)
- hsa-miR-6129 (MIRT752202)
- hsa-miR-6130 (MIRT752290)
- hsa-miR-6133 (MIRT752394)
- hsa-miR-6733-3p (MIRT754096)
- hsa-miR-6733-5p (MIRT754127)
- hsa-miR-6734-5p (MIRT754153)
- hsa-miR-6739-5p (MIRT754324)
- hsa-miR-6785-5p (MIRT755894)
- hsa-miR-6813-5p (MIRT756751)
- hsa-miR-6829-5p (MIRT757116)
- hsa-miR-6834-5p (MIRT757169)
- hsa-miR-6859-5p (MIRT757836)
- hsa-miR-6873-5p (MIRT758087)
- hsa-miR-6875-5p (MIRT758123)
- hsa-miR-6876-5p (MIRT758164)
- hsa-miR-6883-5p (MIRT758479)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM127
- Browse OriGene Inhibitory RNA Products For TMEM127
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM127
Clone Products
- Applied Biological Materials (abm): Clones for TMEM127 - Select products 50% OFF >
- * TMEM127 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMEM127
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM127
Cell Line Products
-
Horizon Cell Lines 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}.
| 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 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM127 Gene
Pathways & Interactions for TMEM127 Gene
Interacting Proteins 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 |
No data available for Pathways by source and SIGNOR curated interactions for TMEM127 Gene
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 :
-
- ENST00000258439 6271 nts (view in UCSC)
- ENST00000432959 3099 nts (view in UCSC)
- ENST00000435268 582 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMEM127 - Select products 50% OFF >
- * TMEM127 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMEM127
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM127
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM127
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM127
- Browse OriGene Inhibitory RNA Products For TMEM127
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM127
Clone Products
- Applied Biological Materials (abm): Clones for TMEM127 - Select products 50% OFF >
- * TMEM127 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMEM127
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM127
| 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
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.164303mRNA 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
Primer Products
-
OriGene qPCR primer pairs for TMEM127
-
OriGene qPCR primer pairs and template standards for TMEM127
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TMEM127 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TMEM127 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TMEM127 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TMEM127 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tmem127 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tmem127 30 |
|
||
| Chicken (Gallus gallus) |
Aves | TMEM127 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | TMEM127 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem127 30 |
|
||
| Str.1183 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | tmem127 30 31 |
|
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM127 Gene
Disorders for TMEM127 Gene
(21) MalaCards diseases for TMEM127 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pheochromocytoma |
|
|
| hereditary paraganglioma-pheochromocytoma syndromes |
|
|
| inherited cancer-predisposing syndrome |
|
|
| paraganglioma |
|
|
| clear cell renal cell carcinoma |
|
|
Search TMEM127 in MalaCards
View complete list of genes associated with diseases
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
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No data available for Genatlas for TMEM127 Gene
Publications for TMEM127 Gene
- Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. (PMID: 20154675) Qin Y … Dahia PL (Nature genetics 2010) 3 4 41
- Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. (PMID: 21156949) Yao L … Dahia PL (JAMA 2010) 3 4 41
- 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
- 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
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
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Products for TMEM127 Gene
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