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

Gene ID: 124842, updated on 9-Jun-2025
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, Jun 2025]
Expression
Biased expression in kidney (RPKM 2.8), brain (RPKM 1.8) and 4 other tissues See more
Orthologs
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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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
Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
 
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
transmembrane protein 132E

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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_001304438.2NP_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.