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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.

No data available for Entrez Gene 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
GH04F000905 0.3 FANTOM5 12.1 -26.8 -26778 0.3 SMARCC1 CBX3 POLR2A EGR1 KDM1A ZNF600 ZBTB33 KLF8 TRIM28 GAK TMEM175 DGKQ FGFRL1 PCGF3 GC04M000897 PIR46095
GH04F000991 0.9 Ensembl ENCODE 6.7 +60.7 60676 2.7 HDGF MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 SLC26A1 DGKQ TMEM175 ENSG00000251639 RNF212 ENSG00000250321 GC04P000992
GH04F000995 0.9 FANTOM5 Ensembl 4.7 +64.6 64563 3.4 HDGF TBP ATF1 SIN3A RAD21 GLIS2 KDM4B CREM ZBTB2 SMAD5 SLC26A1 DGKQ ENSG00000250321 CPLX1 TMEM175 FGFRL1 ZNF721 PDE6B
GH04F000921 0.9 FANTOM5 Ensembl ENCODE 1.8 -8.8 -8814 4.5 HDGF KLF1 TBL1XR1 NFXL1 EBF1 ZIC2 ZBTB40 RELA ZNF121 GLIS2 FGFRL1 DGKQ SLC26A1 GAK PCGF3 PIGG TMEM175 UVSSA ZNF721 GC04M000897
GH04F000646 0.3 FANTOM5 1.8 -285.7 -285720 0.2 CTCF CBX3 SMARCA4 L3MBTL2 HCFC1 NRF1 ZBTB33 ZBTB40 CPLX1 PDE6B ZNF721 TMEM175 ZNF141 GC04M000604 LOC101928521
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001234390 -187 2401 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF207 ZNF263 SP3 ZHX2 MXD4

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

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

No data available for Gene Families for TMEM175 Gene

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.

Gene Ontology (GO) - Molecular Function for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for TMEM175 Gene COMPARTMENTS Subcellular localization image for TMEM175 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 26317472
GO:0005765 lysosomal membrane IEA,IDA 17897319
GO:0005768 endosome IEA,IDA 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 IEA,IDA 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

Transcripts for TMEM175 Gene

Unigene Clusters for TMEM175 Gene

Transmembrane protein 175:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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.
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 and mRNA differential expression in normal tissues 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 34
  • 98.2 (n)
dog
(Canis familiaris)
Mammalia TMEM175 34 35
  • 83.73 (n)
cow
(Bos Taurus)
Mammalia TMEM175 34 35
  • 82.53 (n)
rat
(Rattus norvegicus)
Mammalia Tmem175 34
  • 80.29 (n)
mouse
(Mus musculus)
Mammalia Tmem175 34 16 35
  • 80.09 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM175 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM175 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM175 34 35
  • 62.96 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM175 35
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem175 34 35
  • 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
rs10008187 -- 947,229(+) AGGCA(C/T)GTGTG intron-variant
rs10016294 -- 942,779(+) ggact(A/G)caggc intron-variant
rs10017289 -- 949,746(+) ACGCC(C/G)ACCGC intron-variant, upstream-variant-2KB
rs1051613 -- 957,391(+) GAACC(A/G)TGGAG intron-variant
rs10516157 -- 948,402(+) GTTTC(C/G/T)GAGTT intron-variant, upstream-variant-2KB, utr-variant-5-prime

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 64
  2. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) . … Wood N.W. (Lancet 2011) 3 46 64
  3. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do C.B. … Eriksson N. (PLoS Genet. 2011) 3 46 64
  4. 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 64
  5. Impact of Parkinson's disease risk loci on age at onset. (PMID: 25914293) Lill C.M. … Bertram L. (Mov. Disord. 2015) 3 64

Products for TMEM175 Gene

Sources for TMEM175 Gene

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