Property Summary

NCBI Gene PubMed Count 6
PubMed Score 1.74
PubTator Score 2.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
pilocytic astrocytoma 1.600 0.000
psoriasis -1.600 0.000

Gene RIF (1)

PMID Text
25331638 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.

AA Sequence

MAPGMSGRGGAALLCLSALLAHASGRSHPASPSPPGPQASPVLPVSYRLSHTRLAFFLREARPPSPAVAN      1 - 70
SSLQRSEPFVVFQTKELPVLNVSLGPFSTSQVVARELLQPSSTLDIPERLTVNWKVRAFIVRSHVPASQP     71 - 140
VVQVLFYVAGRDWDDFGVTERLPCVRLHAFRDAREHPLLRIGSISLFRPPPRRTLQEHRLDSNLMIRLPD    141 - 210
RPLKPGEVLSILLYLAPNSSSPSSPSVEHFTLRVKAKKGVTLLGTKSRSGQWHVTSELLTGAKHSTATVD    211 - 280
VAWAQSTPLPPREGQGPLEILQLDFEMENFTSQSVKRRIMWHIDYRGHGALPDLERAVTELTVIQRDVQA    281 - 350
ILPLAMDTEIINTAILTGRTVAIPVKVIAIEVNGLVLDISALVECESDNEDIIKVSSSCDYVFVSGKESR    351 - 420
GSMNARVTFRYDVLNAPLEMTVWVPKLPLHIELSDARLSQVKGWRVPILPDRRSVRESEDEDEEEEERRQ    421 - 490
SASRGCTLQYQHATLQVFTQFHTTSSEGTDQVVTMLGPDWLVEVTDLVSDFMRVGDPRVAHMVDSSTLAG    491 - 560
LEPGTTPFKVVSPLTEAVLGETLLTVTEEKVSITQLQAQVVASLALSLRPSPGSSHTILATTAAQQTLSF    561 - 630
LKQEALLSLWLSYSDGTTAPLSLYSPRDYGLLVSSLDEHVATVTQDRAFPLVVAEAEGSGELLRAELTIA    631 - 700
ESCQKTKRKSVLATTPVGLRVHFGRDEEDPTYDYPGPSQPGPGGGEDEARGAGPPGSALPAPEAPGPGTA    701 - 770
SPVVPPTEDFLPLPTGFLQVPRGLTDLEIGMYALLGVFCLAILVFLINCIVFVLRYRHKRIPPEGQTSMD    771 - 840
HSHHWVFLGNGQPLRVQGELSPPAGNPLETVPAFCHGDHHSSGSSQTSVQSQVHGRGDGSSGGSARDQAE    841 - 910
DPASSPTSKRKRVKFTTFTTLPSEELAYDSVPAGEEDEEEEEDLGWGCPDVAGPTRPTAPPDLHNYMRRI    911 - 980
KEIA                                                                      981 - 984
//

Text Mined References (8)

PMID Year Title
25331638 2015 Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.
24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24080446 2013 Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.
23903073 2013 Genome-wide association study of the five-factor model of personality in young Korean women.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14569139 2003 Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.