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TMEM200C Gene

protein-coding   GIFtS: 34
GCID: GC18M005883

Transmembrane Protein 200C

  Search for TMEM200C
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 200C1 2
Transmembrane Protein TTMA2 3
Two Transmembrane Domain-Containing Family Member A2 3
TTMA2 3
Two Transmembrane Domain Family Member A2

External Ids:    HGNC: 372081   Entrez Gene: 6453692   Ensembl: ENSG000002064327   UniProtKB: A6NKL63   

Export aliases for TMEM200C gene to outside databases


(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 TMEM200C Gene:
TMEM200C (transmembrane protein 200C) 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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RefSeq DNA sequence:
NC_000018.10  NT_010859.15  NC_018929.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TMEM200C
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM200C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM200C


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

Entrez Gene cytogenetic band: 18p11.31   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.31

TMEM200C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM200C gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M005883:  view genomic region     (about GC identifiers)

Start:
5,882,071 bp from pter      End:
5,895,954 bp from pter
Size:
13,884 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: T200C_HUMAN, A6NKL6 (See protein sequence)
Recommended Name: Transmembrane protein 200C  
Size: 621 amino acids; 63928 Da

Explore the universe of human proteins at neXtProt for TMEM200C: NX_A6NKL6

Explore proteomics data for TMEM200C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TMEM200C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073678.1  
    ENSEMBL proteins: 
     ENSP00000463375   ENSP00000372982  

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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 A6NKL6

    ProtoNet protein and cluster: A6NKL6

    UniProtKB/Swiss-Prot: T200C_HUMAN, A6NKL6
    Similarity: Belongs to the TMEM200 family


    TMEM200C 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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    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM200C:
     Decreased Wnt reporter activit 

    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
    T200C_HUMAN, A6NKL6: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    nucleus2
    mitochondrion1
    peroxisome1

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

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

    TMEM200C 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 TMEM200C
    Interactions:

        Search GeneGlobe Interaction Network for TMEM200C

    (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 TMEM200C (T200C)



    (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 TMEM200C gene: 
    NM_001080209.1  

    Unigene Cluster for TMEM200C:

    Transmembrane protein 200C
    Hs.346566  [show with all ESTs]
    Unigene Representative Sequence: NM_001080209
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000581347 ENST00000383490(uc002kmx.1)
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    2 DOTS entries:

    DT.313767  DT.99986898 

    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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    TMEM200C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATAGGGGT
    TMEM200C Expression
    About this image

    TMEM200C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM200C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.346566
        Custom PCR Arrays for TMEM200C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM200C

    (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 TMEM200C gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem200c1 , 5 transmembrane protein 200C1, 5 78.71(n)1
    75.86(a)1
      17 (39.36 cM)5
    6226451  NM_001206661.11  NP_001193590.11 
     688371365 
    chicken
    (Gallus gallus)
    Aves LOC4210541 transmembrane protein 200C-like 65.97(n)
    65.65(a)
      421054  XM_003640802.2  XP_003640850.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM200C6
    transmembrane protein 200C
    46(a)
    1 ↔ 1
    4(41530509-41532185)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmem200c1 transmembrane protein 200C 52.57(n)
    53.52(a)
      100488313  XM_002938055.2  XP_002938101.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01081294.16
    TMEM200C (1 of 2)6
    transmembrane protein 200C
    40(a)
    34(a)
    1 ↔ many
    1 ↔ many
    2(58958976-58966658) ENSDARG00000089006
    24(43713286-43714815) ENSDARG00000086698


    ENSEMBL Gene Tree for TMEM200C (if available)
    TreeFam Gene Tree for TMEM200C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM200C gene
    TMEM200A2  TMEM200B2  

    TMEM200C 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 TMEM200C (see all 96)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018277441,2
    --5889721(+) TTCTA-/AGAGAAC 1 -- ds50010--------
    rs1484816021,2
    --5889736(+) GACAAA/CCTCTT 1 -- ds50010--------
    rs71901,2
    C,F--5889765(+) TGGAGA/GAAAAA 1 -- ds50019Minor allele frequency- G:0.48MN NA EA 527
    rs1427359581,2
    --5889792(+) CAGCTA/GTGGGC 1 -- ds50010--------
    rs123273361,2
    C,F--5889834(+) TGAGGG/TATTAA 1 -- ds50013Minor allele frequency- T:0.07NA 124
    rs1171620881,2
    F--5889946(+) TTTAAT/CACATT 1 -- ds50011Minor allele frequency- C:0.01EA 120
    rs1476573651,2
    --5889972(+) ATACAA/GTCACC 1 -- ds50010--------
    rs342935941,2
    C--5890004(+) AAAAAA/-TCCTT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1858719861,2
    C--5890161(+) CTCCCA/TTTTTC 1 -- ds50011Minor allele frequency- T:0.00EU 569
    rs1448024521,2
    C--5890165(+) CATTT-/TCTCTTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TMEM200C (5882071 - 5895954 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TMEM200C:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv184n21CNV Gain19592680
    nsv909327CNV Gain21882294

    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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      --

    (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 TMEM200C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM200C)
        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, 2, 3 Pickard B.S.... Muir W.J. (Psychiatr. Genet. 2005)
    2. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)1, 2 Nusbaum C.... Lander E.S. (Nature 2005)

    (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: 645369 HGNC: 37208 Ensembl:ENSG00000206432 euGenes: HUgn645369 ECgene: TMEM200C
    H-InvDB: TMEM200C

    (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 TMEM200C 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 TMEM200C gene:
    Search GeneIP for patents involving TMEM200C

    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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