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Aliases for TMEM132E Gene

Aliases for TMEM132E Gene

  • Transmembrane Protein 132E 2 3 5
  • DFNB99 3

External Ids for TMEM132E Gene

Previous GeneCards Identifiers for TMEM132E Gene

  • GC17P029932
  • GC17P032907
  • GC17P029094

Summaries for TMEM132E Gene

GeneCards Summary for TMEM132E Gene

TMEM132E (Transmembrane Protein 132E) is a Protein Coding gene. An important paralog of this gene is TMEM132C.

UniProtKB/Swiss-Prot for TMEM132E Gene

  • Required for normal inner ear hair cell function and hearing.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM132E Gene

Genomics for TMEM132E Gene

Regulatory Elements for TMEM132E Gene

Enhancers for TMEM132E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F034542 0.6 ENCODE 17.7 -37.9 -37853 0.2 CTCF RAD21 ZKSCAN1 FOSL1 SCRT2 ZNF143 SMC3 SMARCE1 SCRT1 ZNF654 TMEM132E C17orf102 GC17M034550 LOC105371739
GH17F034637 0.5 Ensembl ENCODE 11.8 +57.2 57241 1.4 CTCF KLF17 ZIC2 RAD21 ZNF766 STAT2 ZNF143 SMC3 ZNF600 EZH2 C17orf102 TMEM132E GC17M034614 GC17M034729
GH17F034886 0.9 Ensembl ENCODE 10.3 +306.3 306275 0.5 HDAC1 PKNOX1 TBL1XR1 GATA2 SIRT6 CREM USF2 CEBPB ZEB2 ZNF589 TMEM132E C17orf102 GC17P034891 GC17P034858
GH17F034885 1.1 ENCODE 10.3 +304.5 304528 0.2 HDAC1 ATF1 TBL1XR1 ELK1 GATA2 SIRT6 ETV6 CREM ZBTB11 NCOA1 C17orf102 TMEM132E GC17P034891 GC17P034858
GH17F034414 0.4 ENCODE 10.2 -166.3 -166270 0.3 SCRT1 TMEM132E C17orf102 ASIC2 GC17P034446 GC17M034364
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM132E on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM132E Gene

Chromosome:
17
Start:
34,580,749 bp from pter
End:
34,639,319 bp from pter
Size:
58,571 bases
Orientation:
Plus strand

Genomic View for TMEM132E Gene

Genes around TMEM132E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM132E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM132E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM132E Gene

Proteins for TMEM132E Gene

  • Protein details for TMEM132E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IEE7-T132E_HUMAN
    Recommended name:
    Transmembrane protein 132E
    Protein Accession:
    Q6IEE7
    Secondary Accessions:
    • Q8WUF4
    • Q8WVA5

    Protein attributes for TMEM132E Gene

    Size:
    984 amino acids
    Molecular mass:
    107094 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM132E Gene

Post-translational modifications for TMEM132E Gene

  • Glycosylation at Asn 91, Asn 228, and Asn 309
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM132E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM132E Gene

Domains & Families for TMEM132E Gene

Gene Families for TMEM132E Gene

Protein Domains for TMEM132E Gene

Suggested Antigen Peptide Sequences for TMEM132E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IEE7

UniProtKB/Swiss-Prot:

T132E_HUMAN :
  • Belongs to the TMEM132 family.
Family:
  • Belongs to the TMEM132 family.
genes like me logo Genes that share domains with TMEM132E: view

Function for TMEM132E Gene

Molecular function for TMEM132E Gene

UniProtKB/Swiss-Prot Function:
Required for normal inner ear hair cell function and hearing.

Phenotypes for TMEM132E Gene

genes like me logo Genes that share phenotypes with TMEM132E: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM132E Gene

Localization for TMEM132E Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM132E Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM132E Gene COMPARTMENTS Subcellular localization image for TMEM132E gene
Compartment Confidence
endoplasmic reticulum 2
plasma membrane 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMEM132E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with TMEM132E: view

Pathways & Interactions for TMEM132E Gene

SuperPathways for TMEM132E Gene

No Data Available

Interacting Proteins for TMEM132E Gene

Gene Ontology (GO) - Biological Process for TMEM132E Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM132E Gene

Transcripts for TMEM132E Gene

mRNA/cDNA for TMEM132E Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM132E Gene

Transmembrane protein 132E:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM132E Gene

No ASD Table

Relevant External Links for TMEM132E Gene

GeneLoc Exon Structure for
TMEM132E
ECgene alternative splicing isoforms for
TMEM132E

Expression for TMEM132E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM132E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM132E Gene

This gene is overexpressed in Brain - Cerebellum (x10.1) and Brain - Cerebellar Hemisphere (x8.6).

Protein differential expression in normal tissues from HIPED for TMEM132E Gene

This gene is overexpressed in Cervix (65.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM132E Gene



Protein tissue co-expression partners for TMEM132E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM132E Gene:

TMEM132E

SOURCE GeneReport for Unigene cluster for TMEM132E Gene:

Hs.310482
genes like me logo Genes that share expression patterns with TMEM132E: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TMEM132E Gene

Orthologs for TMEM132E Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM132E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM132E 34 35
  • 99.31 (n)
cow
(Bos Taurus)
Mammalia TMEM132E 34 35
  • 91.44 (n)
dog
(Canis familiaris)
Mammalia TMEM132E 34 35
  • 90.01 (n)
rat
(Rattus norvegicus)
Mammalia Tmem132e 34
  • 86.61 (n)
mouse
(Mus musculus)
Mammalia Tmem132e 34 16 35
  • 86.42 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM132E 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM132E 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM132E 34 35
  • 76.28 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM132E 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491853 34
  • 65.26 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem132e 34
  • 63.57 (n)
TMEM132E 35
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2901 34
fruit fly
(Drosophila melanogaster)
Insecta CG14446 34 35
  • 44.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004670 34
  • 40.83 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.10 35
  • 17 (a)
OneToMany
Species where no ortholog for TMEM132E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM132E Gene

ENSEMBL:
Gene Tree for TMEM132E (if available)
TreeFam:
Gene Tree for TMEM132E (if available)

Paralogs for TMEM132E Gene

Paralogs for TMEM132E Gene

(3) SIMAP similar genes for TMEM132E Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TMEM132E Gene

genes like me logo Genes that share paralogs with TMEM132E: view

Variants for TMEM132E Gene

Sequence variations from dbSNP and Humsavar for TMEM132E Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs199796805 Uncertain significance 34,632,725(+) ACTAC(A/G)TGTTT reference, missense
rs1004333 -- 34,600,711(+) GGCCC(C/T)GGCAG intron-variant
rs1029742 -- 34,598,270(-) TGGCA(C/T)AGTGG intron-variant
rs10401018 -- 34,586,111(+) CTGTC(A/C)GAGCA intron-variant
rs10445388 -- 34,582,840(+) CTTAC(A/C)TCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM132E Gene

Variant ID Type Subtype PubMed ID
dgv3141n100 CNV gain 25217958
esv2715864 CNV deletion 23290073
esv2715865 CNV deletion 23290073
esv33292 CNV gain 17666407
esv3572553 CNV gain 25503493
esv3582611 CNV loss 25503493
nsv1055479 CNV gain 25217958
nsv519297 CNV gain 19592680
nsv574714 CNV gain 21841781
nsv833423 CNV loss 17160897

Variation tolerance for TMEM132E Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.00; 68.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM132E Gene

Human Gene Mutation Database (HGMD)
TMEM132E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM132E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM132E Gene

Disorders for TMEM132E Gene

UniProtKB/Swiss-Prot

T132E_HUMAN
  • Note=Several lines of evidence link the Gln-420 variant with autosomal recessive non-syndromic hearing loss. This variant has been reported in 2 siblings with prelingual, bilateral, severe to profound sensorineural hearing loss from a Chinese family of consanguineous marriage and was not found in 500 ethnically matched healthy controls. In mouse, TMEM132E is expressed in cochlea hair cells. In addition, knockdown in zebrafish affects the mechanotransduction of hair cells, a phenotype that can be rescued by wild-type human TMEM132E, but not by the Gln-420 variant. {ECO:0000269 PubMed:25331638}.
  • Note=TMEM132E is located in a region involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene and contiguous genes lying in its flanking regions, is observed in a patient 17q11.2 microdeletion syndrome, a syndrome characterized by variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas. {ECO:0000269 PubMed:14569139}.

Relevant External Links for TMEM132E

Genetic Association Database (GAD)
TMEM132E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM132E

No disorders were found for TMEM132E Gene.

No data available for MalaCards and Genatlas for TMEM132E Gene

Publications for TMEM132E Gene

  1. Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. (PMID: 25331638) Li J. … Liu Q. (Hum. Mutat. 2015) 2 3 4 64
  2. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. (PMID: 14569139) Kehrer-Sawatzki H. … Jenne D.E. (J. Med. Genet. 2003) 3 4 64
  3. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T. … Xu R. (Neurobiol. Aging 2014) 3 64
  4. Genome-wide association study of the five-factor model of personality in young Korean women. (PMID: 23903073) Kim H.N. … Kim H.L. (J. Hum. Genet. 2013) 3 64
  5. Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study. (PMID: 24080446) Rudolph A. … Chang-Claude J. (Endocr. Relat. Cancer 2013) 3 64

Products for TMEM132E Gene

Sources for TMEM132E Gene

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