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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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