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TMEM183B Gene

protein-coding   GIFtS: 33
GCID: GC03M149700

Transmembrane Protein 183B

  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)
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Aliases
Transmembrane Protein 183B1 2
C1orf37-DUP2
C1orf37-dup3
C1ORF37DUP5

External Ids:    HGNC: 332051   Entrez Gene: 6536592   Ensembl: ENSG000002248317   OMIM: 6113655   UniProtKB: Q1AE953   

Export aliases for TMEM183B gene to outside databases

Previous GC identifers: GC03M151184 GC03M147072


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TMEM183B Gene:
This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless
and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequent
research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may
represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment
interactions. (provided by RefSeq, Jul 2010)

GeneCards Summary for TMEM183B Gene:
TMEM183B (transmembrane protein 183B) is a protein-coding gene. Diseases associated with TMEM183B include prostatitis, and endotheliitis.




(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_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM183B gene promoter:
         SRF   Sox5   AML1a   p53   SRF (504 AA)   HNF-4alpha2   Nkx2-5   HNF-4alpha1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM183B


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

Entrez Gene cytogenetic band: 3q25.1   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25.1

TMEM183B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM183B gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M149700:  view genomic region     (about GC identifiers)

Start:
149,699,448 bp from pter      End:
149,701,153 bp from pter
Size:
1,706 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: T183B_HUMAN, Q1AE95 (See protein sequence)
Recommended Name: Transmembrane protein 183B  
Size: 376 amino acids; 42940 Da
Miscellaneous: The chimpanzee orthologous protein does not exist, this gene was derived from TMEM183A through
retroposition after the divergence of human and chimpanzee
Secondary accessions: Q1AE97

Explore the universe of human proteins at neXtProt for TMEM183B: NX_Q1AE95

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_001073277.1  

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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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    2 InterPro protein domains:
     IPR001810 F-box_dom
     IPR026509 TMEM183

    Graphical View of Domain Structure for InterPro Entry Q1AE95

    ProtoNet protein and cluster: Q1AE95

    UniProtKB/Swiss-Prot: T183B_HUMAN, Q1AE95
    Similarity: Belongs to the TMEM183 family


    TMEM183B 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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    Animal Models:
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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
    T183B_HUMAN, Q1AE95: Membrane; Single-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    TMEM183B 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 TMEM183B
    Interactions:

        Search GeneGlobe Interaction Network for TMEM183B

    (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 TMEM183B (T183B)



    (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,
    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 TMEM183B gene: 
    NM_001079809.1  

    Unigene Cluster for TMEM183B:

    Transmembrane protein 183B
    Hs.652908  [show with all ESTs]
    Unigene Representative Sequence: NM_001079809
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463122 ENST00000438359
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    Additional mRNA sequence: AK297222.1 

    7 DOTS entries:

    DT.95244466  DT.91765304  DT.95251238  DT.100826132  DT.102827191  DT.100826123  DT.121417567 

    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™, 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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    TMEM183B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTTCAGGT
    TMEM183B Expression
    About this image

    TMEM183B Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.652908

    UniProtKB/Swiss-Prot: T183B_HUMAN, Q1AE95
    Tissue specificity: Expressed in brain, lung, pancreas, thymus, intestine and blood. Not detected in heart,
    placenta, liver, muscle, kidney, spleen, prostate, testis, ovary and colon

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    In Situ
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    (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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      --

    ENSEMBL Gene Tree for TMEM183B (if available)
    TreeFam Gene Tree for TMEM183B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM183B gene
    1 SIMAP similar gene for TMEM183B using alignment to 1 protein entry:     T183B_HUMAN:
    TMEM183A

    TMEM183B 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), 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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    Selected SNPs for TMEM183B (see all 122)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1833022571,2
    --149699434(+) TAAGTA/GTTTAT 1 -- ds50010--------
    rs345647711,2
    C--149699448(+) GGAAC-/TTTTTT 1 -- ut311Minor allele frequency- T:0.00NA 2
    rs1881814611,2
    --149699526(+) GGGAAA/CATATT 1 -- ut310--------
    rs1445388921,2
    --149699530(+) AAATAC/TTCACT 1 -- ut310--------
    rs1466319481,2
    --149699743(+) GGGCCA/GCTCCT 1 -- ut310--------
    rs1997462141,2
    F--149700014(+) AGAGCC/TGAACG 2 Q R mis11Minor allele frequency- T:0.00EU 593
    rs1114589041,2
    C,F--149700114(+) CACTCG/TATGAT 2 R syn11Minor allele frequency- T:0.50CSA 2
    rs1995233311,2
    C,F--149700130(+) ATGTCC/TGTGCT 2 T syn11Minor allele frequency- T:0.00EU 593
    rs1921755101,2
    --149700482(+) GAGATC/TGGATC 2 Q R mis10--------
    rs28647781,2
    --149700506(-) GCTGCA/GCTGTC 2 H R mis10--------

    HapMap Linkage Disequilibrium report for TMEM183B (149699448 - 149701153 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TMEM183B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4132CNV Insertion18451855
    nsv832370CNV Loss17160897

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611365    OMIM disorders: --

    2 diseases for TMEM183B:    
    About MalaCards
    prostatitis    endotheliitis


    TMEM183B for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM183B

    Export disorders for TMEM183B 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 TMEM183B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM183B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup. (PubMed id 16644869)1, 2, 3 Yu H.... Wang W. (Hum. Mol. Genet. 2006)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    3. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    4. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    5. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)

    (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: 653659 HGNC: 33205 Ensembl:ENSG00000224831 euGenes: HUgn653659 ECgene: TMEM183B
    H-InvDB: TMEM183B

    (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)
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    NameDescription
    PharmGKB entry for TMEM183B 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 TMEM183B gene:
    Search GeneIP for patents involving TMEM183B

    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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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM183B
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     Search LSBio for Antibodies for TMEM183B
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