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TMEM129 Gene

protein-coding   GIFtS: 46
GCID: GC04M001717

Transmembrane Protein 129

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 1291 2
D4S2561E2

External Ids:    HGNC: 251371   Entrez Gene: 923052   Ensembl: ENSG000001689367   UniProtKB: A0AVI43   

Export aliases for TMEM129 gene to outside databases

Previous GC identifers: GC04M001687 GC04M001660


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM129 Gene:
TMEM129 (transmembrane protein 129) is a protein-coding gene. Diseases associated with TMEM129 include malaria.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM129 gene promoter:
         GR   p53   GR-beta   GR-alpha   Nkx2-5   NF-E2   NF-E2 p45   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM129 promoter sequence
   Search Chromatin IP Primers for TMEM129

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM129


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

TMEM129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM129 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M001717:  view genomic region     (about GC identifiers)

Start:
1,717,679 bp from pter      End:
1,723,085 bp from pter
Size:
5,407 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TM129_HUMAN, A0AVI4 (See protein sequence)
Recommended Name: Transmembrane protein 129 precursor  
Size: 362 amino acids; 40464 Da
Secondary accessions: A6NH49 A6NI98 D3DVP8
Alternative splicing: 2 isoforms:  A0AVI4-1   A0AVI4-2   

Explore the universe of human proteins at neXtProt for TMEM129: NX_A0AVI4

Explore proteomics data for TMEM129 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn229
  • Modification sites at PhosphoSitePlus

  • See TMEM129 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120738.1  NP_612394.1  

    ENSEMBL proteins: 
     ENSP00000305243   ENSP00000372394   ENSP00000417412   ENSP00000417259   ENSP00000441812  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR018801 Tmpp129

    Graphical View of Domain Structure for InterPro Entry A0AVI4

    ProtoNet protein and cluster: A0AVI4

    UniProtKB/Swiss-Prot: TM129_HUMAN, A0AVI4
    Similarity: Belongs to the TMEM129 family


    TMEM129 for domains           About GeneDecksing


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    TMEM129 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM129:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    hsa-mir-324-5p (MIRT043184)

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    hsa-miR-3163 hsa-miR-3690 hsa-miR-3910 hsa-miR-378b hsa-miR-422a hsa-miR-124 hsa-miR-506 hsa-miR-378c
    SwitchGear 3'UTR luciferase reporter plasmidTMEM129 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TM129_HUMAN, A0AVI4: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    lysosome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral component of membrane IEA--

    TMEM129 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM129
    Interactions:

        Search GeneGlobe Interaction Network for TMEM129

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TMEM129 (ENSP000003723944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    TMEM129 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM129 (TM129)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TMEM129 gene (2 alternative transcripts): 
    NM_001127266.1  NM_138385.3  

    Unigene Cluster for TMEM129:

    Transmembrane protein 129
    Hs.518562  [show with all ESTs]
    Unigene Representative Sequence: NM_001127266
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303277(uc003gdm.3) ENST00000382936(uc010iby.3 uc003gdn.3)
    ENST00000460722 ENST00000476253 ENST00000480360 ENST00000536901
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TMEM129 (see all 11):
    hsa-miR-3163 hsa-miR-3690 hsa-miR-3910 hsa-miR-378b hsa-miR-422a hsa-miR-124 hsa-miR-506 hsa-miR-378c
    SwitchGear 3'UTR luciferase reporter plasmidTMEM129 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM129
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TMEM129
      QuantiFast Probe-based Assays in human, mouse, rat TMEM129

    Additional mRNA sequence: 

    AK098466.1 AK303880.1 AK310320.1 BC009331.2 BC018921.2 BC126370.1 

    13 DOTS entries:

    DT.451775  DT.100755368  DT.100755370  DT.121216962  DT.99970945  DT.100755366  DT.121217001  DT.121216979 
    DT.92432167  DT.95082332  DT.95129749  DT.95129750  DT.97844837 

    Selected AceView cDNA sequences (see all 206):

    BC009331 BM977729 AI927198 AI393916 AI240436 BQ447161 CR596458 AI573144 
    BQ675936 CA488731 AI332525 AI474764 AA911788 CF127642 AI762150 AI800358 
    BM671734 F04500 BC018921 CA311600 BI820666 NM_138385 BU738417 D55809 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM129    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
    SP1:                    -     -                 -     -                                 
    SP2:                                                                                    
    SP3:                    -     -                 -     -     -                           
    SP4:                                            -                                       
    SP5:                                                                                    


    ECgene alternative splicing isoforms for TMEM129

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM129 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGGGAGCC
    TMEM129 Expression
    About this image

    TMEM129 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM129 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518562
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM129

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TMEM129 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem1291 , 5 transmembrane protein 1291, 5 84.35(n)1
    89.23(a)1
      5 (17.83 cM)5
    683661  NM_026698.21  NP_080974.21 
     336532165 
    chicken
    (Gallus gallus)
    Aves TMEM1291 transmembrane protein 129 73.2(n)
    75.41(a)
      422900  NM_001031168.1  NP_001026339.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmem1291 transmembrane protein 129 72.65(n)
    74.86(a)
      548871  NM_001016117.3  NP_001016117.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc17d072 Danio rerio cDNA clone MGC63798 IMAGE3815098, complete more 76.47(n)    BC058876.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG146461 CG14646 49.2(n)
    34.08(a)
      40555  NM_141205.3  NP_649462.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C34F6.71 C34F6.7 39.49(n)
    27.69(a)
      181310  NM_077473.6  NP_509874.1 


    ENSEMBL Gene Tree for TMEM129 (if available)
    TreeFam Gene Tree for TMEM129 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    3 SNPs for TMEM129    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452949491,2
    C--1717745(+) AAAAC-/TAAG  
            
    TAACT
    2 -- ut310--------
    rs7987521,2,4
    ----see VAR_0328032 mis40--------
    rs3746255351,2
    ----1717748(+) ACTAA-/GTAA  
            
    CTTAT
    2 -- ut310--------

    HapMap Linkage Disequilibrium report for TMEM129 (1717679 - 1723085 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TMEM129 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726832CNV Deletion23290073
    nsv508989CNV Insertion20534489
    dgv5416n71CNV Loss21882294
    nsv878347CNV Loss21882294
    nsv292653CNV Loss16902084
    nsv822437CNV Loss20364138
    nsv470000CNV Loss18288195
    nsv878328CNV Loss21882294
    nsv878393CNV Loss21882294
    dgv5408n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    1 disease for TMEM129:    
    About MalaCards
    malaria


    TMEM129 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM129
    Human Genome Epidemiology (HuGE) Navigator: TMEM129 (1 document)

    Export disorders for TMEM129 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)
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    PubMed articles for TMEM129 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM129)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    3. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. (PubMed id 20348956)1 Kiemeney L.A....Stefansson K. (Nat. Genet. 2010)
    4. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. (PubMed id 20972438)1 Rothman N....Chanock S.J. (Nat. Genet. 2010)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 92305 HGNC: 25137 AceView: LOC92305 Ensembl:ENSG00000168936 euGenes: HUgn92305
    ECgene: TMEM129 H-InvDB: TMEM129

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TMEM129 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMEM129 gene:
    Search GeneIP for patents involving TMEM129

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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