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

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
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 99	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	ClinGen, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal recessive 99	Uncertain significance; Benign; Likely benign; no classifications from unflagged records	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM132E-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atherosclerosis	Atherosclerosis	Pubtator	37686257	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24080446		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24080446	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37686257	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35065650	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	CLINGEN_DG	25331638		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24080446		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	25331638, 31656313		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	GENOMICS_ENGLAND_DG	31656313		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	24362369		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	24362369		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only