Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84286
Gene name	Transmembrane protein 175
Gene symbol	TMEM175
Synonyms (NCBI Gene)	hTMEM175
Chromosome	4
Chromosome location	4p16.3

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

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

MIM	HGNC	e!Ensembl
616660	28709	ENSG00000127419

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	35 → 124	Protein of unknown function (DUF1211)	Family
PF06736	DUF1211	260 → 356	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

Interactions

View interactions

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

TMEM175 (transmembrane protein 175)