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

TMEM204 Gene

protein-coding   GIFtS: 44
GCID: GC16P001579

Transmembrane Protein 204

(Previous name: chromosome 16 open reading frame 30)
(Previous symbol: C16orf30)
  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)
About This Section

Aliases
Transmembrane Protein 2041 2
C16orf301 2 3 5
CLP242 3 5
Claudin-Like Protein 242 3
Chromosome 16 Open Reading Frame 301

External Ids:    HGNC: 141581   Entrez Gene: 796522   Ensembl: ENSG000001316347   OMIM: 6110025   UniProtKB: Q9BSN73   

Export aliases for TMEM204 gene to outside databases

Previous GC identifers: GC16P001524 GC16P001583 GC16P001509


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

Entrez Gene summary for TMEM204 Gene:
C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004
(PubMed 15206924)).(supplied by OMIM, Mar 2008)

GeneCards Summary for TMEM204 Gene: 
TMEM204 (transmembrane protein 204) is a protein-coding gene. Diseases associated with TMEM204 include peritonitis, and hypoxia.

UniProtKB/Swiss-Prot: TM204_HUMAN, Q9BSN7
Function: Can influence paracellular permeability. Appears to be involved in cell-cell interactions through
adherens




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM204 gene promoter:
         Bach1   Max1   Elk-1   Pax-2   E47   C/EBPalpha   CHOP-10   AREB6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM204 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM204

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM204


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TMEM204 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM204 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001579:  view genomic region     (about GC identifiers)

Start:
1,578,689 bp from pter      End:
1,605,581 bp from pter
Size:
26,893 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TM204_HUMAN, Q9BSN7 (See protein sequence)
Recommended Name: Transmembrane protein 204  
Size: 226 amino acids; 24540 Da
Subcellular location: Cell junction, adherens junction. Cell membrane; Multi-pass membrane protein.
Note=Co-localizes with the beta-catenin adherins
Sequence caution: Sequence=BAB14926.1; Type=Frameshift; Positions=161;
Secondary accessions: D3DU76 Q3KRC1 Q9H7G5

Explore the universe of human proteins at neXtProt for TMEM204: NX_Q9BSN7

Explore proteomics data for TMEM204 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BSN7

  • TMEM204 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM204 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243470.1  NP_078876.2  

    ENSEMBL proteins: 
     ENSP00000253934   ENSP00000454945  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0005912adherens junction IEA--
    GO:0016021integral to membrane IEA--

    TMEM204 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q9BSN7


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TM204_HUMAN, Q9BSN7
    Function: Can influence paracellular permeability. Appears to be involved in cell-cell interactions through
    adherens
    Induction: By hypoxia

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TMEM204 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TMEM204:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tmem204):
     immune system  muscle 

    TMEM204 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TMEM204: Tmem204tm1Lex Tmem204tm1.1Ali

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM204 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM204

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001945lymph vessel development IEA--
    GO:0006950response to stress IEA--
    GO:0030947regulation of vascular endothelial growth factor receptor signaling pathway IEA--
    GO:0051145smooth muscle cell differentiation IEA--

    TMEM204 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TMEM204 (TM204)

    Search CenterWatch for drugs/clinical trials and news about TMEM204 / TM204

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM204 gene (2 alternative transcripts): 
    NM_001256541.1  NM_024600.5  

    Unigene Cluster for TMEM204:

    Transmembrane protein 204
    Hs.459652  [show with all ESTs]
    Unigene Representative Sequence: AY676494
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253934(uc002cmc.2 uc010brr.1) ENST00000566264(uc002cmd.2)

    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK024551.1 AY358178.1 AY676494.1 BC004932.1 BC020425.2 BC105785.1 

    3 DOTS entries:

    DT.112874  DT.75100852  DT.120681645 

    24/103 AceView cDNA sequences (see all 103):

    AI338433 BF515190 AI698650 BF109787 AI087924 AI802945 AI356032 AI971809 
    BE044256 AI201822 AI867214 BP368705 AI356013 AI739194 AI380414 AI240953 
    AI686233 BM311297 BM264542 AY358178 AI192951 BP377318 BM271906 BP376874 

    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™, 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

    TMEM204 expression in normal human tissues (normalized intensities)      TMEM204 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTGCGAGAC
    TMEM204 Expression
    About this image


    TMEM204 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Human umbilical vein endothelial cells (HUVEC)
             CD31, CD144 positive cells ( Two-step protocol for endothelial differentiation by...
     
     Fibroblast
             Human Gingival Fibroblasts (HGF)   
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Uncategorized (Uncategorized)
             PureStem Progenitor W10

    See TMEM204 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM204

    SOURCE GeneReport for Unigene cluster: Hs.459652

    UniProtKB/Swiss-Prot: TM204_HUMAN, Q9BSN7
    Tissue specificity: Highly expressed in lung, heart, kidney and placenta. Lower expression in thymus, spleen,
    liver, testis and ovary. Expressed in endothelial and restricted epithelial cell populations

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM204

    (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 chordates.

    Orthologs for TMEM204 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem2041 , 5 transmembrane protein 2041, 5 83.92(n)1
    88.05(a)1
      17 (12.53 cM)5
    4078311  NM_001001183.11  NP_001001183.11 
     250577025 
    chicken
    (Gallus gallus)
    Aves TMEM2041 transmembrane protein 204 78.32(n)
    81.42(a)
      416759  XM_415054.3  XP_415054.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM2046
    Uncharacterized protein
    76(a)
    1 ↔ 1
    GL343649.1(63439-73829)
    zebrafish
    (Danio rerio)
    Actinopterygii tmem2041 transmembrane protein 204 69.3(n)
    70.23(a)
      751647  NM_001163897.1  NP_001157369.1 


    ENSEMBL Gene Tree for TMEM204 (if available)
    TreeFam Gene Tree for TMEM204 (if available)

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

    (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) 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

    1 SNPs in TMEM204 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0514354
    ----see VAR_0514352 G A mis40--------

    HapMap Linkage Disequilibrium report for TMEM204 (1578689 - 1605581 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for TMEM204 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2750347CNV Deletion23290073
    esv2422427CNV Duplication17116639
    nsv904954CNV Loss21882294
    dgv2505n71CNV Loss21882294
    nsv905017CNV Loss21882294
    nsv904950CNV Loss21882294
    nsv833118CNV Loss17160897
    dgv2527n71CNV Loss21882294
    dgv2536n71CNV Loss21882294
    dgv2537n71CNV Loss21882294

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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.)
    About This Section
    OMIM gene information: 611002    OMIM disorders: --

    3 diseases for TMEM204:    About MalaCards
    peritonitis    hypoxia    endotheliitis


    TMEM204 for disorders           About GeneDecksing


    Export disorders for TMEM204 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 TMEM204 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM204)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel four transmembrane spanning protein, CLP24. (PubMed id 15206924)1, 2, 9 Kearsey J.... Schweighoffer F. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    6. 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. (2002)
    7. NotI flanking sequences: a tool for gene discovery and verification of the human genome. (PubMed id 12136098)1 Kutsenko A.S....Zabarovsky E.R. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 79652 HGNC: 14158 AceView: C16orf30 Ensembl:ENSG00000131634 euGenes: HUgn79652
    ECgene: TMEM204 H-InvDB: TMEM204

    (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 TMEM204 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMEM204 gene:
    Search GeneIP for patents involving TMEM204

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

     
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     Proteins for TMEM204
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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