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TMEM132E transmembrane protein 132E [ Homo sapiens (human) ]

Gene ID: 124842, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM132Eprovided by HGNC
Official Full Name
transmembrane protein 132Eprovided by HGNC
Primary source
HGNC:HGNC:26991
See related
Ensembl:ENSG00000181291 MIM:616178; AllianceGenome:HGNC:26991
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB99
Summary
Involved in posterior lateral line neuromast hair cell development. Predicted to be located in cell body. Implicated in autosomal recessive nonsyndromic deafness 99. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney (RPKM 2.8), brain (RPKM 1.8) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
17q12
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (34579582..34639318)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (35526609..35586334)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (32906601..32966337)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371739 Neighboring gene MPRA-validated peak2809 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr17:32836799-32837300 Neighboring gene MPRA-validated peak2810 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:32894480-32895679 Neighboring gene TMEM132E divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32905553-32906089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32906090-32906625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32918804-32919304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32924388-32925207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32928161-32928949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32939734-32940312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32942973-32943573 Neighboring gene MPRA-validated peak2812 silencer Neighboring gene MPRA-validated peak2813 silencer Neighboring gene uncharacterized LOC105371740 Neighboring gene uncharacterized LOC124903987

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. Liaqat K, et al. J Hum Genet, 2020 Jan. PMID 31656313, Free PMC Article
  2. Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Lane JM, et al. Nat Genet, 2017 Feb. PMID 27992416, Free PMC Article
  3. Are TMEM genes potential candidate genes for panic disorder? Gregersen NO, et al. Psychiatr Genet, 2014 Feb. PMID 24362369
  4. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. Kehrer-Sawatzki H, et al. J Med Genet, 2003 Oct. PMID 14569139, Free PMC Article
  5. Hair cell α9α10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products. Gu S, et al. Proc Natl Acad Sci U S A, 2020 Sep 29. PMID 32929005, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.
    Title: Hair cell α9α10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.
  2. The authors present a second Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) family with TMEM132E variants which strengthens the evidence of the involvement of this gene in the etiology of ARNSHI.
    Title: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
  3. Whole-exome sequencing revealed a homozygous missense mutation (c.1259G>A, p.Arg420Gln) in the gene-encoding transmembrane protein 132E (TMEM132E) as the causative variant of autosomal-recessive nonsyndromic hearing loss.
    Title: Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hearing loss, autosomal recessive 99
MedGen: C4760579 OMIM: 618481 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.
EBI GWAS Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Genome-wide association study of the five-factor model of personality in young Korean women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in posterior lateral line neuromast hair cell development IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 132E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054730.1 RefSeqGene

    Range
    3834..63570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304438.2 → NP_001291367.1  transmembrane protein 132E precursor

    Status: VALIDATED

    Source sequence(s)
    AC005691
    Consensus CDS
    CCDS11283.2
    UniProtKB/Swiss-Prot
    A0A0J9YW40, Q6IEE7, Q8WUF4, Q8WVA5
    UniProtKB/TrEMBL
    A0A494BWY4
    Related
    ENSP00000487800.2, ENST00000631683.2
    Conserved Domains (3) summary
    pfam15705
    Location:45 → 175
    TMEM132D_N; Mature oligodendrocyte transmembrane protein, TMEM132D, N-term
    pfam15706
    Location:863 → 941
    TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
    pfam16070
    Location:449 → 794
    TMEM132; Transmembrane protein family 132

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    34579582..34639318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    35526609..35586334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207313.2: Suppressed sequence

    Description
    NM_207313.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IEE7.2 GenPept UniProtKB/Swiss-Prot:Q6IEE7

Gene LinkOut

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