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

TMEM39A Gene

protein-coding   GIFtS: 46
GCID: GC03M119148

transmembrane protein 39A

 Explore 1 disease affiliated with
TMEM39A via our new
 Human Malady Compendium 
Biological research products
for TMEM39A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Protein 39A1 2
FLJ109021

External Ids:    HGNC: 256001   Entrez Gene: 552542   Ensembl: ENSG000001761427   UniProtKB: Q9NV643   

Export aliases for TMEM39A gene to outside databases

Previous GC identifers: GC03M120632 GC03M116525


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM39A gene promoter:
         AML1a   HTF   STAT1beta   AP-4   YY1   AREB6   S8   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM39A promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM39A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM39A


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

Entrez Gene cytogenetic band: 3q13.33   Ensembl cytogenetic band:  3q13.33   HGNC cytogenetic band: 3q13.33

TMEM39A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM39A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M119148:  view genomic region     (about GC identifiers)

Start:
119,148,347 bp from pter      End:
119,187,677 bp from pter
Size:
39,331 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TM39A_HUMAN, Q9NV64 (See protein sequence)
Recommended Name: Transmembrane protein 39A  
Size: 488 amino acids; 55667 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: D3DN80 Q53FN4 Q53GI1 Q6PKB5
Alternative splicing: 2 isoforms:  Q9NV64-1   Q9NV64-2   

Explore the universe of human proteins at neXtProt for TMEM39A: NX_Q9NV64

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NV64

  • TMEM39A Protein expression data from MOPED and PaxDb:    About this image 
    TMEM39A Protein Expression
    REFSEQ proteins: NP_060736.1  
    ENSEMBL proteins: 
     ENSP00000420432   ENSP00000402149   ENSP00000326063   ENSP00000419641   ENSP00000418796  
     ENSP00000417233   ENSP00000419405   ENSP00000419068  

    Human Recombinant Protein Products for TMEM39A: 
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    Uscn Proteins for TMEM39A

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    TMEM39A for ontologies           About GeneDecksing



    TMEM39A Antibody Products: 
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    Uscn ELISAs and CLIAs for TMEM39A


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

    TMEM39A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019397 Uncharacterised_TMEM39

    Graphical View of Domain Structure for InterPro Entry Q9NV64

    ProtoNet protein and cluster: Q9NV64

    UniProtKB/Swiss-Prot: TM39A_HUMAN, Q9NV64
    Similarity: Belongs to the TMEM39 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM39A:
     Decreased Wnt reporter activit 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMEM39A 

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM39A (see all 30):
    hsa-miR-124* hsa-miR-607 hsa-miR-3200-5p hsa-miR-188-5p hsa-miR-300 hsa-miR-3942-5p hsa-miR-520a-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidTMEM39A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM39A (see all 7)
    OriGene shRNA RFP: TMEM39A
    OriGene siRNA: TMEM39A
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM39A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM39A

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

    2 Interacting proteins for TMEM39A (Q9NV643 ENSP000003260634) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEC13P557353I2D: score=4 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 TMEM39A
    Search CenterWatch for drugs/clinical trials and news about TMEM39A / TM39A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM39A gene: 
    NM_018266.2  

    Unigene Cluster for TMEM39A:

    Transmembrane protein 39A
    Hs.594171  [show with all ESTs]
    Unigene Representative Sequence: NR_073506
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473684 ENST00000438581(uc003ecl.1) ENST00000319172(uc003eck.1)
    ENST00000468545 ENST00000491685 ENST00000486159 ENST00000486235 ENST00000468676
    ENST00000490099 ENST00000497993 ENST00000482162 ENST00000461654

    miRNA
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    OriGene 3'-UTR Clone: TMEM39A
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM39A
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM39A (see all 30):
    hsa-miR-124* hsa-miR-607 hsa-miR-3200-5p hsa-miR-188-5p hsa-miR-300 hsa-miR-3942-5p hsa-miR-520a-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidTMEM39A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM39A (see all 7)
    OriGene shRNA RFP: TMEM39A
    OriGene siRNA: TMEM39A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM39A
    Sirion Biotech Custom design and validation of potent shRNA sequences against TMEM39A 
    Clone
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    Additional cDNA sequence: 

    AK001764.1 AK092064.1 AK222950.1 AK223248.1 BC003192.1 BC010070.2 BC021277.2 NR_073506.1 

    10 DOTS entries:

    DT.214439  DT.99987617  DT.102831309  DT.100641272  DT.120849913  DT.214441  DT.214443  DT.120849905 
    DT.422133  DT.100777787 

    24/164 AceView cDNA sequences (see all 164):

    BM932280 AI378909 AI129100 BQ053549 BP372073 AA709227 BC010070 AI804471 
    BX119597 CA414932 AI431734 NM_018266 AL561639 AW769185 BP341984 AI753393 
    BC021277 AI206500 BQ574359 AI634728 AA554709 BX100266 H01940 BI819547 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM39A (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                                                                                    -                     
    SP2:                                                                          -                                         -                     
    SP3:                          -                                                                                                               
    SP4:                                                  -     -     -           -                                                               
    SP5:                                                                                                                    -     -               


    ECgene alternative splicing isoforms for TMEM39A

    (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

    TMEM39A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTAGTATA
    TMEM39A Expression
    About this image
    See TMEM39A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM39A

    SOURCE GeneReport for Unigene cluster: Hs.594171
        SABiosciences Custom PCR Arrays for TMEM39A

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM39A

    (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 animals.

    Orthologs for TMEM39A gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem39a1 , 5 transmembrane protein 39a1, 5 90.05(n)1
    95.47(a)1
      16 (26.87 cM)5
    678461  NM_001205286.11  NP_001192215.11 
     385586985 
    chicken
    (Gallus gallus)
    Aves TMEM39A1 transmembrane protein 39A 80.79(n)
    91.12(a)
      418340  XM_416562.3  XP_416562.2 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM39A6
    --
    90(a)
    1 ↔ 1
    2(82595702-82615288)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.113432 Xenopus laevis transcribed sequence with moderate similarity more 80.35(n)    BJ097664.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb92e032 wufb92e03 73.5(n)   323208  BC056707.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG130161 CG13016 44.12(n)
    32.89(a)
      36562  NM_137085.3  NP_610929.2 
    worm
    (Caenorhabditis elegans)
    Secernentea D1007.51 Protein D1007.5 43.98(n)
    33.91(a)
      172060  NM_001025900.2  NP_001021071.1 


    ENSEMBL Gene Tree for TMEM39A (if available)
    TreeFam Gene Tree for TMEM39A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM39A gene
    TMEM39B2  
    1 SIMAP similar gene for TMEM39A using alignment to 7 protein entries:     TM39A_HUMAN (see all proteins):
    TMEM39B

    TMEM39A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/634 NCBI SNPs in TMEM39A are shown (see all 634    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs785165801,2
    C,F--119149226(+) TTGCTA/GCACTT 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs1120259841,2
    --119149312(+) CCCCAC/TGCATA 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1922753471,2
    --119149313(+) CCCACA/GCATAT 1 -- ds50010--------
    rs1810377811,2
    --119149346(+) CCTTTA/GCATTT 1 -- ds50010--------
    rs1849203131,2
    --119149389(+) TAGTGC/TCTACT 1 -- ds50010--------
    rs1901237811,2
    --119149403(+) TAATAC/TATATT 1 -- ds50010--------
    rs1824361231,2
    --119149478(+) ACATCA/GAAATA 1 -- ds50010--------
    rs753979771,2
    F--119149494(+) AGAAAC/TAATTA 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1154191441,2
    C,F--119149558(+) ACAATA/GCTTCC 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs348497151,2
    C--119149627(+) AACGAC/TATGAT 1 -- ds50014Minor allele frequency- T:0.17NA EA 244

    HapMap Linkage Disequilibrium report for TMEM39A (119148347 - 119187677 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMEM39A: --
    Human Gene Mutation Database (HGMD): TMEM39A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM39A
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM39A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMEM39A for disorders           About GeneDecksing

    1 disease for TMEM39A:    About MalaCards
    multiple sclerosis

    Human Genome Epidemiology (HuGE) Navigator: TMEM39A (3 documents)

    Export disorders for TMEM39A 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 TMEM39A gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with TMEM39A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as su sceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. (PubMed id 22464253)1 Lessard C.J.... . (2012)
    4. Replication study of 10 genes showing evidence for ass ociation with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correct ion of CLBL] genes. (PubMed id 22194214)1 Varade J....Urcelay E. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    7. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1 Oguri M....Yamada Y. (2010)
    8. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1 Yoshida T....Yamada Y. (2010)
    9. Comprehensive follow-up of the first genome-wide asso ciation study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibi lity loci. (PubMed id 20007504)1 (2010)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55254 HGNC: 25600 AceView: FLJ10902 Ensembl:ENSG00000176142 euGenes: HUgn55254
    ECgene: TMEM39A H-InvDB: TMEM39A

    (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 TMEM39A 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 TMEM39A gene:
    Search GeneIP for patents involving TMEM39A

    GeneCards and IP:
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