Property Summary

NCBI Gene PubMed Count 9
PubMed Score 2.83
PubTator Score 6.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Microphthalmia 78 3.514 1.8

Gene RIF (2)

PMID Text
21689651 Data demonstrate that TMEM114, and the closely related TMEM235, are closely related to members of the voltage dependent calcium channel gamma subunit family.
17492639 TMEM114 has a role in mammalian cataract formation

AA Sequence

MRVHLGGLAGAAALTGALSFVLLAAAIGTDFWYIIDTERLERTGPGAQDLLGSINRSQPEPLSSHSGLWR      1 - 70
TCRVQSPCTPLMNPFRLENVTVSESSRQLLTMHGTFVILLPLSLILMVFGGMTGFLSFLLQAYLLLLLTG     71 - 140
ILFLFGAMVTLAGISVYIAYSAAAFREALCLLEEKALLDQVDISFGWSLALGWISFIAELLTGAAFLAAA    141 - 210
RELSLRRRQDQAI                                                             211 - 223
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Text Mined References (10)

PMID Year Title
24357539 2014 Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.
23674605 2013 The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway.
22669729 2012 A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
21689651 2011 The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.
18637741 2008 Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
17492639 2007 Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
11181995 2001 The sequence of the human genome.