Hs02314043_cn

• Gene Symbol: TMEM175
• Assay Reference Genome Location: Chr.4:957964 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 84286
• Gene Name: transmembrane protein 175
• Gene Aliases: hTMEM175
• Location: Chr.4:932387-958656 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM175	NM_001297423.1	11	1629	NP_001284352.1
	NM_001297424.1	9	945	NP_001284353.1
	NM_001297425.1	9	942	NP_001284354.1
	NM_001297426.1	12	1409	NP_001284355.1
	NM_001297427.1	11	1665	NP_001284356.1
	NM_001297428.1	9	981	NP_001284357.1
	NM_032326.3	11	1168	NP_115702.1
	XM_005272301.2	10	1059	XP_005272358.1
	XM_005272303.4	12	1325	XP_005272360.1
	XM_005272304.1	11	1134	XP_005272361.1
	XM_011513576.1	7	686	XP_011511878.1
	XM_017008701.1	12	1245	XP_016864190.1
	XM_017008702.1	9	892	XP_016864191.1
	XM_017008703.1	12	1687	XP_016864192.1
	XM_017008704.1	10	1500	XP_016864193.1
	XM_017008705.1	8	837	XP_016864194.1
	AL834199.1	12	1279	CAD38888.1
	BC005158.2	11	1081	AAH05158.1
	CF242841.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	SLC26A1 LOC100129917 GAK FGFRL1 CPLX1 DGKQ TMEM175 RNF212 IDUA
nsv593226	Chr.4:948218 - 1025223 on Build GRCh38	Loss	SLC26A1 FGFRL1 DGKQ TMEM175 IDUA
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	SLC26A1 TMED11P CTBP1-AS DGKQ TMEM175 CTBP1 CTBP1-AS2 NKX1-1 IDUA GAK ATP5I MAEA LOC101928548 PDE6B MFSD7 LOC101928521 MYL5 LOC100129917 FGFRL1 CRIPAK LOC107986211 LOC105374344 SPON2 RNF212 LOC100130872 CPLX1 UVSSA PCGF3
nsv950327	Chr.4:945913 - 978512 on Build GRCh38	Deletion	DGKQ TMEM175
dgv5079n100	Chr.4:843485 - 970603 on Build GRCh38	Gain	GAK DGKQ TMEM175
esv29984	Chr.4:857569 - 970571 on Build GRCh38	Loss	GAK DGKQ TMEM175
nsv469998	Chr.4:815805 - 1093743 on Build GRCh38	Loss	SLC26A1 GAK FGFRL1 CPLX1 DGKQ TMEM175 RNF212 IDUA
nsv1008352	Chr.4:819605 - 1041628 on Build GRCh38	Gain	SLC26A1 GAK FGFRL1 CPLX1 DGKQ TMEM175 IDUA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

regulation of lysosomal lumen pH
potassium ion transmembrane transport
phagosome-lysosome fusion

Function(s)

potassium ion leak channel activity