TMEM175 (transmembrane protein 175)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84286
• Gene name: Transmembrane protein 175
• Gene symbol: TMEM175
• Synonyms (NCBI Gene): hTMEM175
• Chromosome: 4
• Chromosome location: 4p16.3

miRNA Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037472	hsa-miR-744-5p	CLASH	23622248
MIRT719514	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT719513	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT719512	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT719511	hsa-miR-585-3p	HITS-CLIP	19536157
MIRT719510	hsa-miR-1268a	HITS-CLIP	19536157
MIRT719509	hsa-miR-1268b	HITS-CLIP	19536157
MIRT719514	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT719513	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT719512	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT719511	hsa-miR-585-3p	HITS-CLIP	19536157
MIRT719510	hsa-miR-1268a	HITS-CLIP	19536157
MIRT719509	hsa-miR-1268b	HITS-CLIP	19536157
MIRT1432817	hsa-miR-3145-3p	CLIP-seq
MIRT1432818	hsa-miR-3169	CLIP-seq
MIRT1432819	hsa-miR-4740-5p	CLIP-seq
MIRT2351223	hsa-miR-1972	CLIP-seq
MIRT2351224	hsa-miR-3647-3p	CLIP-seq
MIRT2351225	hsa-miR-4717-5p	CLIP-seq
MIRT2351226	hsa-miR-548aa	CLIP-seq
MIRT2351223	hsa-miR-1972	CLIP-seq
MIRT1432817	hsa-miR-3145-3p	CLIP-seq
MIRT2351224	hsa-miR-3647-3p	CLIP-seq
MIRT2351225	hsa-miR-4717-5p	CLIP-seq
MIRT2644910	hsa-miR-513b	CLIP-seq
MIRT2351226	hsa-miR-548aa	CLIP-seq

Gene ontology (GO) Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IDA	28723891
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	33505021, 37390818
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	26317472, 31261387, 31658403
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	35750034
GO:0005765	Component	Lysosomal membrane	IDA	32228865
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	26317472
GO:0005768	Component	Endosome	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0010008	Component	Endosome membrane	IDA	32228865
GO:0010008	Component	Endosome membrane	IEA
GO:0015252	Function	Proton channel activity	IDA	35333573, 35750034, 37390818
GO:0015252	Function	Proton channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0022841	Function	Potassium ion leak channel activity	IBA
GO:0022841	Function	Potassium ion leak channel activity	IDA	26317472, 32228865
GO:0022841	Function	Potassium ion leak channel activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035751	Process	Regulation of lysosomal lumen pH	IDA	35750034
GO:0035751	Process	Regulation of lysosomal lumen pH	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	IDA	35333573, 35750034, 37390818
GO:0050544	Function	Arachidonate binding	IDA	35750034
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0070050	Process	Neuron cellular homeostasis	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IDA	26317472, 28723891, 32228865
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0090385	Process	Phagosome-lysosome fusion	IEA
GO:1902600	Process	Proton transmembrane transport	IDA	35333573, 35750034, 37390818
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 616660
• HGNC: 28709
• e!Ensembl: ENSG00000127419

Protein

• UniProt ID: Q9BSA9
• Protein name: Endosomal/lysosomal proton channel TMEM175 (Potassium channel TMEM175) (Transmembrane protein 175) (hTMEM175)
• Protein function: Proton-activated proton channel that catalyzes proton efflux from endosomes and lysosomes to maintain a steady-state pH (PubMed:35333573, PubMed:35750034, PubMed:37390818). Activated at low pH (under pH 4.6) by luminal side protons: selectively
• PDB: 6W8N , 6W8O , 6W8P , 6WC9 , 6WCA , 6WCB , 6WCC , 7LF6 , 7UNL , 7UNM , 8DHM , 8FY5 , 8FYF , 8VIC , 8VIE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06736	DUF1211	260 → 356	Protein of unknown function (DUF1211)	Family
  PF06736	DUF1211	35 → 124	Protein of unknown function (DUF1211)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:26317472}.
• Sequence:

  MSQPRTPEQALDTPGDCPPGRRDEDAGEGIQCSQRMLSFSDALLSIIATVMILPVTHTEI
  SPEQQFDRSVQRLLATRIAVYLMTFLIVTVAWAAHTRLFQVVGKTDDTLALLNLACMMTI
  TFLPYTFSLMVTFPDVPLGIFLFCVCVIAIGVVQALIVGYAFHFPHLLSPQIQRSAHRAL
  YRRHVLGIVLQGPALCFAAAIFSLFFVPLSYLLMVTVILLPYVSKVTGWCRDRLLGHREP
  SAHPVEVFSFDLHEPLSKERVEAFSDGVYAIVATLLILDICEDNVPDPKDVKERFSGSLV
  AALSATGPRFLAYFGSFATVGLLWFAHHSLFLHVRKATRAMGLLNTLSLAFVGGLPLAYQ
  QTSAFARQPRDELERVRVSCTIIFLASIFQLAMWTTALLHQAETLQPSVWFGGREHVLMF
  AKLALYPCASLLAFASTCLLSRFSVGIFHLMQIAVPCAFLLLRLLVGLALATLRVLRGLA
  RPEHPPPAPTGQDDPQSQLLPAPC

• Sequence length: 504

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	33589841, 35729600	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	21292315, 21738487, 25064009, 28892059, 30957308, 31660654, 31701892, 32201043, 32310270, 34064523, 36759515, 38155330, 39080267, 39503264	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	29293537	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM175-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	25102180, 38374256, 39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37328865, 37639066	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	34994165	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	35729600	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36279431	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	21292315, 21738487, 25064009, 28892059, 30957308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	21292315, 21738487, 22438815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	25914293, 26601739, 28193887, 29422008, 31261387, 31658403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	26601739, 30957308, 31261387, 33436766, 34148545, 34994165, 35750034, 36279431, 36609826, 37328865	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	29293537		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for TMEM175.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to TMEM175.