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

Gene ID: 124842, updated on 29-Mar-2020

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
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
Expression
Biased expression in kidney (RPKM 2.8), brain (RPKM 1.8) and 4 other tissues See more
Orthologs

Genomic context

See TMEM132E in Genome Data Viewer
Location:
17q12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (34579582..34639318)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (32907768..32966337)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371739 Neighboring gene chromosome 17 open reading frame 102 Neighboring gene uncharacterized LOC105371740 Neighboring gene uncharacterized LOC105371742 Neighboring gene uncharacterized LOC105371741

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
DEAFNESS, AUTOSOMAL RECESSIVE 99
MedGen: CN260175 OMIM: 618481 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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
    Q6IEE7
    UniProtKB/TrEMBL
    A0A0J9YW40
    Related
    ENSP00000487800.1, ENST00000631683.1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    34579582..34639318
    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.
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