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TMEM200B Gene

protein-coding   GIFtS: 36
GCID: GC01M029445

Transmembrane Protein 200B

  Search for TMEM200B
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 200B1 2
Transmembrane Protein TTMA2 3
Two Transmembrane Domain-Containing Family Member B2 3
TTMB2 3
Two Transmembrane B2

External Ids:    HGNC: 337851   Entrez Gene: 3994742   Ensembl: ENSG000002533047   UniProtKB: Q69YZ23   

Export aliases for TMEM200B gene to outside databases

Previous GC identifers: GC01M029318 GC01M027698


(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 TMEM200B Gene:
TMEM200B (transmembrane protein 200B) is a protein-coding gene. An important paralog of this gene is TMEM200A.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM200B gene promoter:
         Pbx1a   USF2   USF-1:USF-2   RORalpha1   Egr-2   CREB   HFH-1   USF-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM200B promoter sequence
   Search Chromatin IP Primers for TMEM200B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM200B


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

Entrez Gene cytogenetic band: 1p35   Ensembl cytogenetic band:  1p35.3   HGNC cytogenetic band: 1p35

TMEM200B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM200B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M029445:  view genomic region     (about GC identifiers)

Start:
29,445,937 bp from pter      End:
29,450,447 bp from pter
Size:
4,511 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: T200B_HUMAN, Q69YZ2 (See protein sequence)
Recommended Name: Transmembrane protein 200B  
Size: 307 amino acids; 32750 Da
Secondary accessions: Q6P2G8 Q6P2Q5

Explore the universe of human proteins at neXtProt for TMEM200B: NX_Q69YZ2

Post-translational modifications: 

  • Glycosylation2 at Asn88
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins (2 alternative transcripts): 
    NP_001003682.1  NP_001165339.1  

    ENSEMBL proteins: 
     ENSP00000428459   ENSP00000428544  

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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:
     IPR018787 DUF2371_TMEM200

    Graphical View of Domain Structure for InterPro Entry Q69YZ2

    ProtoNet protein and cluster: Q69YZ2

    UniProtKB/Swiss-Prot: T200B_HUMAN, Q69YZ2
    Similarity: Belongs to the TMEM200 family


    TMEM200B 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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM200B
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    SwitchGear 3'UTR luciferase reporter plasmidTMEM200B 3' UTR sequence
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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
    T200B_HUMAN, Q69YZ2: Membrane; Multi-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--

    TMEM200B 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 TMEM200B
    Interactions:

        Search GeneGlobe Interaction Network for TMEM200B

    (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 TMEM200B (T200B)



    (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 TMEM200B gene (2 alternative transcripts): 
    NM_001003682.3  NM_001171868.1  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521452(uc001brn.2) ENST00000420504(uc021okh.1)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTMEM200B 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TMEM200B

    Selected AceView cDNA sequences (see all 370):

    BM452936 CF136825 BQ424914 BQ422444 BU663983 AA730984 CB158940 BF476313 
    AL041809 BC009063 CR622465 AA448885 NM_203343 BM465039 AI400417 CA390275 
    AI241891 BM454463 AI638770 CD109824 NM_203342 BU159552 BX492942 BC039079 

    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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    TMEM200B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTTGGAG
    TMEM200B Expression
    About this image

    TMEM200B Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
        Custom PCR Arrays for TMEM200B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM200B

    (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 chordates.

    Orthologs for TMEM200B gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem200b1 , 5 transmembrane protein 200B1, 5 82.16(n)1
    88.38(a)1
      4 (64.54 cM)5
    6232301  NM_001201367.11  NP_001188296.11 
     1319217715 
    chicken
    (Gallus gallus)
    Aves TMEM200B6
    transmembrane protein 200B
    34(a)
    1 ↔ 1
    23(2626799-2627923)
    lizard
    (Anolis carolinensis)
    Reptilia TMEM200B6
    transmembrane protein 200B
    36(a)
    1 ↔ 1
    GL344047.1(5599-6816)
    zebrafish
    (Danio rerio)
    Actinopterygii TMEM200B6
    transmembrane protein 200B
    21(a)
    1 ↔ 1
    19(17148138-17154245) ENSDARG00000095629


    ENSEMBL Gene Tree for TMEM200B (if available)
    TreeFam Gene Tree for TMEM200B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM200B gene
    TMEM200A2  TMEM200C2  

    TMEM200B 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 TMEM200B (see all 120)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401657671,2
    C--29447079(+) TCTTGA/GGTTTG 2 -- ut310--------
    rs763462361,2
    C,F--29447242(+) CAGCTG/AGCATT 2 -- ut311Minor allele frequency- A:0.03WA 118
    rs1456835211,2
    --29447256(+) CTGCCC/TGCATG 2 -- ut310--------
    rs757350551,2
    F--29447307(+) CCATCC/ACCAGC 2 -- ut311Minor allele frequency- A:0.03EA 120
    rs1453064411,2
    C--29447411(+) CTCCCC/TTCTCT 2 -- ut310--------
    rs1449252281,2
    C,F--29447425(+) GACCCG/AGGCCC 4 /R /W mis11Minor allele frequency- A:0.00NA 3692
    rs1491930141,2
    --29447509(+) AGCACA/TGTCCC 4 S C mis10--------
    rs1392817501,2
    C,F--29447639(+) CCCCAG/AGGTGG 4 /P syn11Minor allele frequency- A:0.00NA 4252
    rs1404932211,2
    C,F--29447663(+) CCCTTC/TAGCGG 4 L syn11Minor allele frequency- T:0.00NA 4234
    rs560404561,2
    C,F--29447699(+) CCCAAG/ACGAGG 4 /R syn13Minor allele frequency- A:0.02NS NA EU 5541

    HapMap Linkage Disequilibrium report for TMEM200B (29445937 - 29450447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TMEM200B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509091CNV Insertion20534489

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TMEM200B
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM200B

    (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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      --

    (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 TMEM200B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM200B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18. (PubMed id 15722956)1, 3 Pickard B.S.... Muir W.J. (Psychiatr. Genet. 2005)
    2. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    3. 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)
    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. (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: 399474 HGNC: 33785 AceView: EPB41 Ensembl:ENSG00000253304 euGenes: HUgn399474
    ECgene: TMEM200B H-InvDB: TMEM200B

    (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 TMEM200B 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 TMEM200B gene:
    Search GeneIP for patents involving TMEM200B

    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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     SwitchGear 3'UTR luciferase reporter plasmids for TMEM200B
     SwitchGear Promoter luciferase reporter plasmids for TMEM200B
     Search ThermoFisher Antibodies for TMEM200B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM200B
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM200B
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM200B
     LSBio Antibodies in human, mouse, rat for TMEM200B
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
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     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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