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

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: mouse all

Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole-exome sequencing revealed a homozygous missense mutation (c.1259G>A, p.Arg420Gln) in the gene-encoding transmembrane protein 132E (TMEM132E) as the causative variant of autosomal-recessive nonsyndromic hearing loss.
Title: Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 NHGRI GWA CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study of the five-factor model of personality in young Korean women. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-104930 (e-PCR)
- UniSTS:169028

D17S1842 (e-PCR), detects polymorphism
- UniSTS:19535

D11Pas23 (e-PCR), detects polymorphism
- UniSTS:259418

D17S514 (e-PCR)
- UniSTS:146840

D17S1872 (e-PCR)
- UniSTS:29346

D17S1158 (e-PCR), detects polymorphism
- UniSTS:10712

Homology

Homologs of the TMEM132E gene: The TMEM132E gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 311 organisms have orthologs with human gene TMEM132E
Orthologs

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

General protein information

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Preferred Names: transmembrane protein 132E

NCBI Reference Sequences (RefSeq)

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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

NG_054730.1 RefSeqGene

Range

3834..63570

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304438.2 → NP_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:45 → 175

TMEM132D_N; Mature oligodendrocyte transmembrane protein, TMEM132D, N-term

pfam15706
Location:863 → 941

TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term

pfam16070
Location:449 → 794

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

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

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.