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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 , CIViC 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
GH17G034412 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 -167.6 -167580 1.8 PKNOX1 NFRKB TCF12 GATA2 FOS ZNF280D CAVIN1 ELF4 ELF1 ZNF592 CCL2 CCL7 C17orf102 TMEM132E ASIC2 CCL1 CCL8 GC17P034446 GC17M034364
GH17G034542 0.7 ENCODE 17.7 -37.9 -37853 0.2 CTCF RAD21 ZKSCAN1 FOSL1 SCRT2 ZNF143 SMC3 FOS SCRT1 SMARCE1 TMEM132E C17orf102 GC17M034550 LOC105371739
GH17G034637 1 Ensembl ENCODE 11.8 +57.2 57241 1.4 CTCF RB1 KLF17 ZIC2 RAD21 ZNF766 STAT2 ZNF143 SMC3 ZNF600 C17orf102 TMEM132E GC17M034614 GC17M034729
GH17G034885 0.9 ENCODE 10.3 +304.5 304528 0.2 HDAC1 ATF1 TBL1XR1 ARNT TCF12 ZNF766 ELK1 GATA2 SIRT6 ETV6 C17orf102 TMEM132E GC17P034891 GC17P034858
GH17G034886 0.9 ENCODE 10.3 +306.2 306188 0.2 HDAC1 PKNOX1 TBL1XR1 TCF12 ZNF766 GATA2 SIRT6 CREM CEBPB USF2 C17orf102 TMEM132E GC17P034891 GC17P034858
- Elite enhancer and/or Elite enhancer-gene association 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 Asn91, isoforms=228, and Asn309
  • 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

CRISPR Products

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM132E gene
Compartment Confidence
plasma membrane 2
endoplasmic reticulum 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

Drugs & Compounds for TMEM132E Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for TMEM132E Gene

  • Nervous system(4.1)
  • Adrenal gland(4)
genes like me logo Genes that share expression patterns with TMEM132E: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000055974 -- 34,616,120(+) GGGAC(C/G)CTGAT intron-variant
rs1000079695 -- 34,611,612(+) GGAGG(G/T)CCCTG intron-variant
rs1000129478 -- 34,620,973(+) AGCTC(A/G)TATGG intron-variant
rs1000161989 -- 34,620,771(+) GTGGC(C/T)GTGAG 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 analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. (PMID: 27992416) Lane J.M. … Saxena R. (Nat. Genet. 2017) 3 64
  4. 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
  5. Are TMEM genes potential candidate genes for panic disorder? (PMID: 24362369) Gregersen N.O. … Mors O. (Psychiatr. Genet. 2014) 3 64

Products for TMEM132E Gene

Sources for TMEM132E Gene

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