TMEM132E (transmembrane protein 132E)

Gene

• Entrez ID: 124842
• Gene name: Transmembrane protein 132E
• Gene symbol: TMEM132E
• Synonyms (NCBI Gene): DFNB99
• Chromosome: 17
• Chromosome location: 17q12

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139895222	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1430785	hsa-miR-146b-3p	CLIP-seq
MIRT1430786	hsa-miR-1538	CLIP-seq
MIRT1430787	hsa-miR-1914	CLIP-seq
MIRT1430788	hsa-miR-3170	CLIP-seq
MIRT1430789	hsa-miR-3173-5p	CLIP-seq
MIRT1430790	hsa-miR-4436b-3p	CLIP-seq
MIRT1430791	hsa-miR-4505	CLIP-seq
MIRT1430792	hsa-miR-4731-5p	CLIP-seq
MIRT1430793	hsa-miR-4745-3p	CLIP-seq
MIRT1430794	hsa-miR-4763-5p	CLIP-seq
MIRT1430795	hsa-miR-4773	CLIP-seq
MIRT1430796	hsa-miR-485-5p	CLIP-seq
MIRT1430797	hsa-miR-604	CLIP-seq
MIRT1430798	hsa-miR-647	CLIP-seq
MIRT1430799	hsa-miR-874	CLIP-seq
MIRT2129180	hsa-miR-1205	CLIP-seq
MIRT2129181	hsa-miR-1909	CLIP-seq
MIRT1430788	hsa-miR-3170	CLIP-seq
MIRT1430792	hsa-miR-4731-5p	CLIP-seq
MIRT2129180	hsa-miR-1205	CLIP-seq
MIRT2350764	hsa-miR-22	CLIP-seq
MIRT2350765	hsa-miR-3620	CLIP-seq
MIRT2350766	hsa-miR-4286	CLIP-seq
MIRT2350767	hsa-miR-4715-3p	CLIP-seq
MIRT2350768	hsa-miR-486-3p	CLIP-seq
MIRT2461677	hsa-miR-3197	CLIP-seq
MIRT2461678	hsa-miR-4649-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0016020	Component	Membrane	IEA
GO:0035677	Process	Posterior lateral line neuromast hair cell development	IGI	25331638
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS

Other IDs

• MIM: 616178
• HGNC: 26991
• e!Ensembl: ENSG00000181291

Protein

• UniProt ID: Q6IEE7
• Protein name: Transmembrane protein 132E
• Protein function: Required for normal inner ear hair cell function and hearing.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15705	TMEM132D_N	45 → 176	Mature oligodendrocyte transmembrane protein, TMEM132D, N-term	Family
  PF16070	TMEM132	449 → 795	Transmembrane protein family 132	Family
  PF15706	TMEM132D_C	865 → 943	Mature oligodendrocyte transmembrane protein, TMEM132D, C-term	Family

• Sequence:

  MAPGMSGRGGAALLCLSALLAHASGRSHPASPSPPGPQASPVLPVSYRLSHTRLAFFLRE
  ARPPSPAVANSSLQRSEPFVVFQTKELPVLNVSLGPFSTSQVVARELLQPSSTLDIPERL
  TVNWKVRAFIVRSHVPASQPVVQVLFYVAGRDWDDFGVTERLPCVRLHAFRDAREVKSSC
  RLSGGLATCLVRAELPLAWFGPPAPAAPPTARRKSPDGLEPEATGESQQAELYYTLHAPD
  ASGGCGGSRRGAGPGVGARAESPTQHPLLRIGSISLFRPPPRRTLQEHRLDSNLMIRLPD
  RPLKPGEVLSILLYLAPNSSSPSSPSVEHFTLRVKAKKGVTLLGTKSRSGQWHVTSELLT
  GAKHSTATVDVAWAQSTPLPPREGQGPLEILQLDFEMENFTSQSVKRRIMWHIDYRGHGA
  LPDLERAVTELTVIQRDVQAILPLAMDTEIINTAILTGRTVAIPVKVIAIEVNGLVLDIS
  ALVECESDNEDIIKVSSSCDYVFVSGKESRGSMNARVTFRYDVLNAPLEMTVWVPKLPLH
  IELSDARLSQVKGWRVPILPDRRSVRESEDEDEEEEERRQSASRGCTLQYQHATLQVFTQ
  FHTTSSEGTDQVVTMLGPDWLVEVTDLVSDFMRVGDPRVAHMVDSSTLAGLEPGTTPFKV
  VSPLTEAVLGETLLTVTEEKVSITQLQAQVVASLALSLRPSPGSSHTILATTAAQQTLSF
  LKQEALLSLWLSYSDGTTAPLSLYSPRDYGLLVSSLDEHVATVTQDRAFPLVVAEAEGSG
  ELLRAELTIAESCQKTKRKSVLATTPVGLRVHFGRDEEDPTYDYPGPSQPGPGGGEDEAR
  GAGPPGSALPAPEAPGPGTASPVVPPTEDFLPLPTGFLQVPRGLTDLEIGMYALLGVFCL
  AILVFLINCIVFVLRYRHKRIPPEGQTSMDHSHHWVFLGNGQPLRVQGELSPPAGNPLET
  VPAFCHGDHHSSGSSQTSVQSQVHGRGDGSSGGSARDQAEDPASSPTSKRKRVKFTTFTT
  LPSEELAYDSVPAGEEDEEEEEDLGWGCPDVAGPTRPTAPPDLHNYMRRIKEIA

• Sequence length: 1074

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hearing loss, autosomal recessive 99	Uncertain significance; Benign; Likely benign; no classifications from unflagged records	rs1907257569, rs763524517, rs4795938, rs147874855, rs7218304, rs570477617, rs139895222, rs369653624, rs766225189, rs370232097	RCV001331902 RCV001331903 RCV001838714 RCV002477883 RCV001838794 RCV002482460 RCV000786004 RCV003140164 RCV001255158 RCV001255159
TMEM132E-related disorder	Uncertain significance; Likely benign; Benign	rs202178307, rs375386140, rs139895222, rs151214976, rs746828822, rs146508723, rs369150277, rs375307089, rs189572250, rs150343983, rs143357098, rs774833623, rs2508609671, rs1330972441, rs376714451, rs150026307, rs753259918, rs566810741, rs2142079780, rs147570260, rs140315218, rs140154597	RCV004758208 RCV003911072 RCV003965082 RCV003971095 RCV003958576 RCV003951292 RCV004758220 RCV003913527 RCV004758224 RCV003916358 RCV003911176 RCV003946672 RCV003912141 RCV003913982 RCV003941900 RCV003951884 RCV003961428 RCV003971661 RCV003966862 RCV003945421 RCV003936255 RCV003973006

Associations from Text Mining
Disease Name	Relationship Type	References
Atherosclerosis	Associate	37686257
Breast Neoplasms	Associate	24080446
Cerebral Infarction	Associate	37686257
Colorectal Neoplasms	Associate	35065650
Embolic Stroke	Associate	37686257
Nonsyndromic sensorineural hearing loss	Associate	31656313
Sleep Initiation and Maintenance Disorders	Associate	27992416