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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM114 Gene

protein-coding   GIFtS: 39
GCID: GC16M008620

Transmembrane Protein 114

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane Protein 1141 2

External Ids:    HGNC: 332271   Entrez Gene: 2839532   Ensembl: ENSG000002322587   OMIM: 6115795   UniProtKB: B3SHH93   

Export aliases for TMEM114 gene to outside databases

Previous GC identifers: GC16U900672 GC16M008560


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TMEM114 Gene: 
TMEM114 (transmembrane protein 114) is a protein-coding gene. Diseases associated with TMEM114 include microphthalmia, and cataract. An important paralog of this gene is TMEM235.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM114 gene promoter:
         ER-alpha   RFX1   RREB-1   GATA-1   E47   YY1   CREB   Zic1   deltaCREB   LyF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TMEM114

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM114


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.2   Ensembl cytogenetic band:  16p13.2   HGNC cytogenetic band: 16p13.2

TMEM114 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM114 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M008620:  view genomic region     (about GC identifiers)

Start:
8,619,502 bp from pter      End:
8,622,304 bp from pter
Size:
2,803 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TM114_HUMAN, B3SHH9 (See protein sequence)
Recommended Name: Transmembrane protein 114  
Size: 223 amino acids; 24166 Da
Subcellular location: Cell membrane (By similarity); Multi-pass membrane protein (Potential)
Developmental stage: Detected in the eye at gestational days 53-54 and at gestational week 10

Explore the universe of human proteins at neXtProt for TMEM114: NX_B3SHH9

TMEM114 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_001139808.1  
ENSEMBL proteins: 
 ENSP00000454261  

Human Recombinant Protein Products for TMEM114: 
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0016021integral to membrane IEA--
GO:0016324apical plasma membrane ----
GO:0016327apicolateral plasma membrane ----

TMEM114 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for TMEM114


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: B3SHH9

UniProtKB/Swiss-Prot: TM114_HUMAN, B3SHH9
Similarity: Belongs to the PMP-22/EMP/MP20 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM114 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM114

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM114

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM114 (TM114)

Search CenterWatch for drugs/clinical trials and news about TMEM114 / TM114

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM114 gene: 
NM_001146336.1  

Unigene Cluster for TMEM114:

Transmembrane protein 114
Hs.150849  [show with all ESTs]
Unigene Representative Sequence: NM_001146336
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000568335(uc010uyd.2) ENST00000444171
miRNA
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Inhib. RNA
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OriGene ORF clones in mouse, rat for TMEM114
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Primer
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Additional mRNA sequence: 

BC127923.1 BC150510.1 BC150511.1 

2 DOTS entries:

DT.40131201  DT.204729 

24/38 AceView cDNA sequences (see all 38):

BE327198 BM670302 AW135815 BU735064 AI793290 AI688577 AI935029 BE222379 
BU737015 AI972430 CD675263 BU737713 BV178429 BM696438 BM706249 BM670967 
BE326310 BE670838 BE669761 BE674461 BF727259 CD674704 BE467208 BX117050 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMEM114 expression in normal human tissues (normalized intensities)      TMEM114 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCTTAGAAGA
TMEM114 Expression
About this image


TMEM114 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/3 selected tissues (see all 3) fully expand
 
 Ovary (Reproductive System)    fully expand to see all 2 entries
         Granulosa Cells Primary Follicle
         oocyte   
 
 Testis (Reproductive System)
         Pre-Sertoli Cells Testis Cord
 
 Lung (Respiratory System)

Genevestigator expression for TMEM114

SOURCE GeneReport for Unigene cluster: Hs.150849
    SABiosciences Custom PCR Arrays for TMEM114
Primer
Products:
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM114

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TMEM114 gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cldn261 , 5 claudin 261, 5 81.98(n)1
85.14(a)1
  16 (3.84 cM)5
747201  NM_029070.21  NP_083346.11 
 84092765 
chicken
(Gallus gallus)
Aves TMEM1141 transmembrane protein 114 67.14(n)
65.88(a)
  771894  XM_001235109.2  XP_001235110.2 
lizard
(Anolis carolinensis)
Reptilia TMEM1146
Uncharacterized protein
36(a)
1 ↔ 1
GL343263.1(849663-855718)
zebrafish
(Danio rerio)
Actinopterygii LOC1001502081 transmembrane protein 114-like 59.51(n)
57.07(a)
  100150208  XM_001922273.1  XP_001922308.1 


ENSEMBL Gene Tree for TMEM114 (if available)
TreeFam Gene Tree for TMEM114 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for TMEM114 gene
TMEM2352  
1 SIMAP similar gene for TMEM114 using alignment to 2 protein entries:     TM114_HUMAN (see all proteins):
TMEM235

TMEM114 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/479 SNPs in TMEM114 are shown (see all 479)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0587094
----see VAR_0587092 F L mis40--------
VAR_0587084
----see VAR_0587082 A V mis40--------
VAR_0587074
----see VAR_0587072 I T mis40--------
rs346127701,2
C--8566919(+) AGGAA-/GGAAGGAAGGAAGGAA/GG
AAGGAAGGAAGGAAGGAAGGAA
ATTGA
2 -- int1 cds11NA 2
rs1438689821,2
--8586874(+) CGGATA/GGGGAG 1 -- int10--------
rs727805361,2
C--8586881(+) GGAGCC/GCATTC 1 -- int10--------
rs1402243071,2
--8586926(+) GATTTC/TTCTGG 1 -- int10--------
rs354496951,2
C,F--8586958(+) TTAGTC/TTTGAA 1 -- int19Minor allele frequency- T:0.06NA WA 430
rs1499178811,2
C--8587022(+) GACCTA/CACCTG 1 -- int10--------
rs620188601,2
C--8587034(+) CCCCGT/CAGAAA 1 -- int14Minor allele frequency- C:0.12NA CSA WA 241

HapMap Linkage Disequilibrium report for TMEM114 (8619502 - 8622304 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for TMEM114:    About this table     
Variant IDTypeSubtypePubMed ID
dgv340n27CNV Gain19166990


Human Gene Mutation Database (HGMD): TMEM114

Locus Specific Mutation Databases (LSDB): TMEM114
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing TMEM114
DNA2.0 Custom Variant and Variant Library Synthesis for TMEM114

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 611579    OMIM disorders: --

UniProtKB/Swiss-Prot: TM114_HUMAN, B3SHH9
  • Note=Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts.
    Translocation t(16;22) (p13.3;q11.2)

  • 2 diseases for TMEM114:    About MalaCards
    microphthalmia    cataract

    1 disease from the University of Copenhagen DISEASES database for TMEM114:
    Microphthalmia

    TMEM114 for disorders           About GeneDecksing


    Export disorders for TMEM114 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMEM114 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM114)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 17492639)1, 2, 3 Jamieson R.V.... Black G.C.M. (2007)
    2. The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. (PubMed id 21689651)1, 2 Maher G.J.... Manson F.D. (2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107413)2 Wistow G.... Peterson K. (2002)
    6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 283953 HGNC: 33227 AceView: LOC283953 Ensembl:ENSG00000232258 euGenes: HUgn283953
    ECgene: TMEM114 H-InvDB: TMEM114

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMEM114 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMEM114 gene:
    Search GeneIP for patents involving TMEM114

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM114
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM114
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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