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

    Gene ID: 124842, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 2.8), brain (RPKM 1.8) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMEM132E in Genome Data Viewer
    Location:
    17q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (34579582..34639318)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (35526609..35586334)
    RS_2024_09 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

    Expression

    • 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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001304438.2NP_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:45175
      TMEM132D_N; Mature oligodendrocyte transmembrane protein, TMEM132D, N-term
      pfam15706
      Location:863941
      TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
      pfam16070
      Location:449794
      TMEM132; Transmembrane protein family 132

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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.