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Aliases for TMEM175 Gene

Aliases for TMEM175 Gene

  • Transmembrane Protein 175 2 3 4 5
  • HTMEM175 3 4
  • Endosomal/Lysomomal Potassium Channel TMEM175 3

External Ids for TMEM175 Gene

Summaries for TMEM175 Gene

GeneCards Summary for TMEM175 Gene

TMEM175 (Transmembrane Protein 175) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TMEM175 Gene

  • Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel.

Additional gene information for TMEM175 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM175 Gene

Genomics for TMEM175 Gene

Regulatory Elements for TMEM175 Gene

Enhancers for TMEM175 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H000991 1.6 Ensembl ENCODE dbSUPER 6.8 +60.7 60676 2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SP5 MXD4 SLC26A1 DGKQ TMEM175 ENSG00000251639 RNF212 ENSG00000250321 GC04P000992
GH04H000905 0.6 FANTOM5 12.1 -26.8 -26778 0 SMARCC1 ZNF600 ZBTB33 KLF8 TMEM175 GAK DGKQ FGFRL1 PCGF3 PIR46095 GC04M000897
GH04H000995 1.2 FANTOM5 Ensembl 4.7 +64.6 64563 3 TBP HDGF RB1 RAD21 ELK1 ATF7 CREM ZBTB2 SMAD5 ZBTB11 PIGG GAK PCGF3 CRIPAK MAEA SLC26A1 DGKQ ENSG00000250321 CPLX1 TMEM175
GH04H000921 1.4 FANTOM5 Ensembl ENCODE 1.8 -8.6 -8569 4 TBL1XR1 NFXL1 ZBTB40 BATF ZNF121 GLIS2 ZNF143 ETV6 RUNX3 IKZF2 FGFRL1 DGKQ SLC26A1 GAK PCGF3 PIGG TMEM175 UVSSA ZNF721 GC04M000897
GH04H000878 0.9 FANTOM5 ENCODE 1.6 -52.7 -52709 2 NR2F1 BATF RAD21 IKZF1 EED GLIS1 RUNX3 SPI1 DGKQ PCGF3 TMEM175 PIGG UVSSA PIR57058 PIR45035 GC04P000882
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM175 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM175 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164735 -87 2201 PKNOX1 ATF1 ARID4B SIN3A BRCA1 ETS1 GLIS2 ELK1 ZNF143 ZNF207

Genomic Location for TMEM175 Gene

Chromosome:
4
Start:
932,387 bp from pter
End:
958,656 bp from pter
Size:
26,270 bases
Orientation:
Plus strand

Genomic View for TMEM175 Gene

Genes around TMEM175 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM175 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM175 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM175 Gene

Proteins for TMEM175 Gene

  • Protein details for TMEM175 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSA9-TM175_HUMAN
    Recommended name:
    Endosomal/lysomomal potassium channel TMEM175
    Protein Accession:
    Q9BSA9
    Secondary Accessions:
    • D3DVN4
    • Q8ND13

    Protein attributes for TMEM175 Gene

    Size:
    504 amino acids
    Molecular mass:
    55615 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM175 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM175 Gene

Post-translational modifications for TMEM175 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM175 Gene

Domains & Families for TMEM175 Gene

Gene Families for TMEM175 Gene

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

Protein Domains for TMEM175 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM175 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BSA9

UniProtKB/Swiss-Prot:

TM175_HUMAN :
  • Probably forms a two-repeat structure, with each repeat containing 6 transmembrane regions. The first transmembrane region of each repeat (named IS1 and IIS1, repectively), which contain the invariant FSD motif probably form the ion filter. Negatively charged residues (Asp/Glu) within the helices may interact with potassium ions to achieve the potassium selectivity.
  • Belongs to the TMEM175 family.
Domain:
  • Probably forms a two-repeat structure, with each repeat containing 6 transmembrane regions. The first transmembrane region of each repeat (named IS1 and IIS1, repectively), which contain the invariant FSD motif probably form the ion filter. Negatively charged residues (Asp/Glu) within the helices may interact with potassium ions to achieve the potassium selectivity.
Family:
  • Belongs to the TMEM175 family.
genes like me logo Genes that share domains with TMEM175: view

Function for TMEM175 Gene

Molecular function for TMEM175 Gene

UniProtKB/Swiss-Prot Function:
Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel.

Phenotypes From GWAS Catalog for TMEM175 Gene

Gene Ontology (GO) - Molecular Function for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005267 potassium channel activity IDA 28723891
GO:0022841 potassium ion leak channel activity IDA 26317472
genes like me logo Genes that share ontologies with TMEM175: view
genes like me logo Genes that share phenotypes with TMEM175: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM175 Gene

Localization for TMEM175 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM175 Gene

Endosome membrane; Multi-pass membrane protein. Lysosome 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 TMEM175 gene
Compartment Confidence
lysosome 5
endosome 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA,IEA 26317472
GO:0005765 lysosomal membrane IDA,IEA 17897319
GO:0005768 endosome IDA,IEA 26317472
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMEM175: view

Pathways & Interactions for TMEM175 Gene

SuperPathways for TMEM175 Gene

No Data Available

Interacting Proteins for TMEM175 Gene

Selected Interacting proteins: Q9BSA9-TM175_HUMAN for TMEM175 Gene via IID

Symbol External ID(s) Details
APP

Gene Ontology (GO) - Biological Process for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0035751 regulation of lysosomal lumen pH IEA --
GO:0071805 potassium ion transmembrane transport IDA,IEA 26317472
genes like me logo Genes that share ontologies with TMEM175: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM175 Gene

Drugs & Compounds for TMEM175 Gene

No Compound Related Data Available

Transcripts for TMEM175 Gene

Unigene Clusters for TMEM175 Gene

Transmembrane protein 175:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM175 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - - -
SP8:
SP9: - - - - -
SP10: - - - - - - -
SP11: - - - -
SP12: - - - - - - -
SP13: -
SP14: -
SP15: - - - - -
SP16:
SP17: -

Relevant External Links for TMEM175 Gene

GeneLoc Exon Structure for
TMEM175
ECgene alternative splicing isoforms for
TMEM175

Expression for TMEM175 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM175 Gene

Protein differential expression in normal tissues from HIPED for TMEM175 Gene

This gene is overexpressed in Adrenal (30.8), Blymphocyte (11.7), and Peripheral blood mononuclear cells (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM175 Gene



Protein tissue co-expression partners for TMEM175 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM175 Gene:

TMEM175

SOURCE GeneReport for Unigene cluster for TMEM175 Gene:

Hs.478936

mRNA Expression by UniProt/SwissProt for TMEM175 Gene:

Q9BSA9-TM175_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TMEM175 Gene

  • Nervous system(4.7)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with TMEM175: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM175 Gene

Orthologs for TMEM175 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM175 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM175 33
  • 98.2 (n)
dog
(Canis familiaris)
Mammalia TMEM175 33 34
  • 83.73 (n)
cow
(Bos Taurus)
Mammalia TMEM175 33 34
  • 82.53 (n)
rat
(Rattus norvegicus)
Mammalia Tmem175 33
  • 80.29 (n)
mouse
(Mus musculus)
Mammalia Tmem175 33 16 34
  • 80.09 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM175 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM175 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM175 33 34
  • 62.96 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM175 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem175 33 34
  • 63.41 (n)
Species where no ortholog for TMEM175 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM175 Gene

ENSEMBL:
Gene Tree for TMEM175 (if available)
TreeFam:
Gene Tree for TMEM175 (if available)

Paralogs for TMEM175 Gene

(1) SIMAP similar genes for TMEM175 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with TMEM175: view

No data available for Paralogs for TMEM175 Gene

Variants for TMEM175 Gene

Sequence variations from dbSNP and Humsavar for TMEM175 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000020000 -- 949,751(+) CACCG(C/T)GGCCC intron-variant, upstream-variant-2KB
rs1000128699 -- 954,283(+) CGTCC(A/G)GCCTA intron-variant
rs1000154536 -- 942,005(+) GATCC(A/G)CTTCG intron-variant
rs1000189512 -- 953,941(+) TTAGC(C/T)TCCCA intron-variant
rs1000191417 -- 958,273(+) CAGCC(C/T)GCTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TMEM175 Gene

Variant ID Type Subtype PubMed ID
dgv5079n100 CNV gain 25217958
esv2726739 CNV deletion 23290073
esv2759217 CNV loss 17122850
esv29984 CNV loss 17803354
esv3563227 CNV deletion 23714750
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv469998 CNV loss 18288195
nsv593226 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv950327 CNV deletion 24416366

Variation tolerance for TMEM175 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM175 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM175

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM175 Gene

Disorders for TMEM175 Gene

Relevant External Links for TMEM175

Genetic Association Database (GAD)
TMEM175
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM175

No disorders were found for TMEM175 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM175 Gene

Publications for TMEM175 Gene

  1. TMEM175 Is an Organelle K(+) Channel Regulating Lysosomal Function. (PMID: 26317472) Cang C … Ren D (Cell 2015) 2 3 4 60
  2. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do CB … Eriksson N (PLoS genetics 2011) 3 45 60
  3. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 45 60
  4. 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 60
  5. The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture. (PMID: 28723891) Lee C … Jiang Y (Nature 2017) 3 60

Products for TMEM175 Gene

Sources for TMEM175 Gene

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