Aliases for TMEM132E Gene

Aliases for TMEM132E Gene

  • Transmembrane Protein 132E 2 3 4 5
  • DFNB99 2 3
  • TMEM132E 5

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. Diseases associated with TMEM132E include Deafness, Autosomal Recessive 99 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. An important paralog of this gene is TMEM132C.

UniProtKB/Swiss-Prot Summary for TMEM132E Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM132E Gene

Genomics for TMEM132E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM132E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J034578 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 255.8 +0.3 305 1.6 ZNF600 ZNF223 ZIC2 ZBTB10 ZNF341 ZEB1 ZNF610 SP2 KLF16 ZSCAN5A TMEM132E TMEM132E-DT LIG3 ZNF830 CCL7 lnc-CCL13-2
GH17J034412 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -166.2 -166186 3.4 MYC ZNF592 MNT TAF9B MAFF TAL1 ELF1 ZNF316 NFE2 RELA CCL2 CCL7 TMEM132E TMEM132E-DT LIG3 ASIC2 CCL1 CCL8 lnc-CCL13-1 piR-38583-008
GH17J034542 Enhancer 0.6 ENCODE 17.7 -36.6 -36590 0.2 ZNF654 CTCF REST TRIM22 RAD21 SMC3 SMARCA5 ZKSCAN1 SCRT1 ZNF143 TMEM132E TMEM132E-DT HSALNG0115880 HSALNG0115879 CCL1
GH17J034882 Enhancer 1 Ensembl ENCODE 10.3 +304.9 304914 3.2 MYC IKZF1 NCOR1 NFIC ZIC2 HES1 BHLHE40 ARNT NBN RUNX1 CCT6B TMEM132E TMEM132E-DT LIG3 HSALNG0115895 piR-31162-199 LOC105371742 ZNF830
GH17J034886 Enhancer 1 Ensembl ENCODE 10.3 +307.6 307614 1.4 MYC NCOR1 NFIC HES1 BHLHE40 MNT TAL1 ZNF316 SKIL MYNN TMEM132E TMEM132E-DT CCT6B LIG3 HSALNG0115895 piR-31162-199 LOC105371742 ZNF830
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM132E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM132E

Top Transcription factor binding sites by QIAGEN in the TMEM132E gene promoter:
  • AP-2gamma
  • c-Ets-1
  • CUTL1
  • E47
  • Hand1
  • HSF2
  • Pax-5
  • S8
  • YY1
  • ZIC2

Genomic Locations for TMEM132E Gene

Latest Assembly
chr17:34,579,487-34,639,318
(GRCh38/hg38)
Size:
59,832 bases
Orientation:
Plus strand

Previous Assembly
chr17:32,906,601-32,966,337
(GRCh37/hg19 by Entrez Gene)
Size:
59,737 bases
Orientation:
Plus strand

chr17:32,907,768-32,966,337
(GRCh37/hg19 by Ensembl)
Size:
58,570 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:
    • A0A0J9YW40
    • Q8WUF4
    • Q8WVA5

    Protein attributes for TMEM132E Gene

    Size:
    1074 amino acids
    Molecular mass:
    116150 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD80169.1; Type=Miscellaneous discrepancy; Note=Artifactual sequence.; Evidence={ECO:0000305};

neXtProt entry for TMEM132E Gene

Post-translational modifications for TMEM132E Gene

  • Glycosylation at Asn70, Asn91, Asn318, and Asn399
  • 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

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TMEM132E Gene

Suggested Antigen Peptide Sequences for TMEM132E Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 132E (T132E_HUMAN)

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 From GWAS Catalog for TMEM132E Gene

Gene Ontology (GO) - Molecular Function for TMEM132E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM132E: view
genes like me logo Genes that share phenotypes with TMEM132E: view

Human Phenotype Ontology for TMEM132E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM132E

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM132E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0044297 cell body IEA,ISS --
genes like me logo Genes that share ontologies with TMEM132E: view

Pathways & Interactions for TMEM132E Gene

PathCards logo

SuperPathways for TMEM132E Gene

No Data Available

Interacting Proteins for TMEM132E Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000316532 for TMEM132E Gene via STRING

Gene Ontology (GO) - Biological Process for TMEM132E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035677 posterior lateral line neuromast hair cell development IGI 25331638
genes like me logo Genes that share ontologies with TMEM132E: view

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 :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM132E

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

No ASD Table

Relevant External Links for TMEM132E Gene

GeneLoc Exon Structure 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM132E

SOURCE GeneReport for Unigene cluster for TMEM132E Gene:

Hs.310482

Evidence on tissue expression from TISSUES for TMEM132E Gene

  • Nervous system(4.2)
  • Adrenal gland(4)
genes like me logo Genes that share expression patterns with TMEM132E: view

Primer products for research

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 29 30
  • 99.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM132E 29 30
  • 91.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM132E 29 30
  • 90.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem132e 29
  • 86.61 (n)
Mouse
(Mus musculus)
Mammalia Tmem132e 29 16 30
  • 86.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM132E 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM132E 30
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM132E 29 30
  • 76.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM132E 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491853 29
  • 65.26 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmem132e 29
  • 63.57 (n)
TMEM132E 30
  • 60 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2901 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG14446 29 30
  • 44.97 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004670 29
  • 40.83 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.10 30
  • 17 (a)
OneToMany
Species where no ortholog for TMEM132E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM132E: view image
Alliance of Genome Resources:
Additional Orthologs for TMEM132E

Paralogs for TMEM132E Gene

Paralogs for TMEM132E Gene

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

  • T132E_HUMAN

Pseudogenes.org Pseudogenes for TMEM132E Gene

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

Variants for TMEM132E Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM132E Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1030371 Uncertain Significance: Deafness, autosomal recessive 99 34,629,094(+) A/G
NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val)
MISSENSE
1030372 Uncertain Significance: Deafness, autosomal recessive 99 34,637,737(+) C/G
NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met)
MISSENSE
977484 Pathogenic: Deafness, autosomal recessive 99 34,626,441(+) G/T
NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser)
MISSENSE
977485 Pathogenic: Deafness, autosomal recessive 99 34,637,481(+) C/T
NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu)
MISSENSE
rs1017514287 Uncertain Significance: not provided 34,637,591(+) C/G
NM_001304438.2(TMEM132E):c.2584C>G (p.Pro862Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM132E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TMEM132E Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TMEM132E Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM132E Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 99
  • dfnb99
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
multiple personality disorder
  • dissociative identity disorder
joubert syndrome 20
  • jbts20
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

T132E_HUMAN
  • 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 with 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}.
  • Deafness, autosomal recessive, 99 (DFNB99) [MIM:618481]: A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:25331638}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TMEM132E

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

No data available for 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 (Human mutation 2015) 2 3 4 72
  2. TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules. (PMID: 29088312) Sanchez-Pulido L … Ponting CP (Bioinformatics (Oxford, England) 2018) 2 3
  3. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. (PMID: 14569139) Kehrer-Sawatzki H … Jenne DE (Journal of medical genetics 2003) 3 4
  4. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. (PMID: 31656313) Liaqat K … Leal SM (Journal of human genetics 2020) 3
  5. Hair cell α9α10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products. (PMID: 32929005) Gu S … Bredt DS (Proceedings of the National Academy of Sciences of the United States of America 2020) 3

Products for TMEM132E Gene

Sources for TMEM132E Gene