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

C3orf52 Gene

protein-coding   GIFtS: 39
GCID: GC03P111805

Chromosome 3 Open Reading Frame 52

  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
Chromosome 3 Open Reading Frame 521 2
TPA Induced Trans-Membrane Protein1 2
TTMP2 5
Novel Endoplasmic Reticulum Transmembrane Protein2
TPA-Induced Transmembrane Protein2

External Ids:    HGNC: 262551   Entrez Gene: 796692   Ensembl: ENSG000001145297   OMIM: 6119565   UniProtKB: Q5BVD13   

Export aliases for C3orf52 gene to outside databases

Previous GC identifers: GC03P113289 GC03P109180


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

GeneCards Summary for C3orf52 Gene: 
C3orf52 (chromosome 3 open reading frame 52) is a protein-coding gene. Diseases associated with C3orf52 include pancreatic cancer, and pancreatitis.


(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_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C3orf52 gene promoter:
         CUTL1   NF-E2 p45   AREB6   POU2F1   FOXJ2 (long isoform)   POU2F1a   POU2F1b   POU2F1c   FOXJ2   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC3orf52 promoter sequence
   Search SABiosciences Chromatin IP Primers for C3orf52

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf52


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

Entrez Gene cytogenetic band: 3q13.2   Ensembl cytogenetic band:  3q13.2   HGNC cytogenetic band: 3q13.2

C3orf52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf52 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P111805:  view genomic region     (about GC identifiers)

Start:
111,805,182 bp from pter      End:
111,849,851 bp from pter
Size:
44,670 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: TTMP_HUMAN, Q5BVD1 (See protein sequence)
Recommended Name: TPA-induced transmembrane protein  
Size: 217 amino acids; 24295 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=AAH17064.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB15569.1; Type=Frameshift; Positions=1; Sequence=BAG60364.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: B4DNV2 B4E0Z2 Q96AJ4 Q9H5Q1
Alternative splicing: 3 isoforms:  Q5BVD1-1   Q5BVD1-2   Q5BVD1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C3orf52: NX_Q5BVD1

Explore proteomics data for C3orf52 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5BVD1

  • C3orf52 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C3orf52 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001165218.1  NP_078892.2  

    ENSEMBL proteins: 
     ENSP00000420539   ENSP00000264848   ENSP00000420077   ENSP00000390333   ENSP00000399392  

    Human Recombinant Protein Products for C3orf52: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    C3orf52 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


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

    ProtoNet protein and cluster: Q5BVD1


    (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: TTMP_HUMAN, Q5BVD1
    Induction: Up-regulated following treatment with 12-O-tetradecanoylphorbol-13-acetate (TPA) in the pancreatic
    cancer cell line HPAF-II. The up-regulation by TPA is triggered at the promoter level

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for C3orf52 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C3orf52 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC3orf52 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3orf52


    (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 C3orf52

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

    1 Interacting protein for C3orf52 (ENSP000002648484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 C3orf52 (TTMP)

    Search CenterWatch for drugs/clinical trials and news about C3orf52 / TTMP

    (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 C3orf52 gene (2 alternative transcripts): 
    NM_001171747.1  NM_024616.2  

    Unigene Cluster for C3orf52:

    Chromosome 3 open reading frame 52
    Hs.434247  [show with all ESTs]
    Unigene Representative Sequence: NM_024616
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480282 ENST00000264848(uc003dyq.4) ENST00000484828 ENST00000497610
    ENST00000494096 ENST00000467942(uc011bht.1 uc003dyr.1) ENST00000430855
    ENST00000431717(uc011bhs.2)
    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate C3orf52 (see all 23):
    hsa-let-7d hsa-let-7c hsa-miR-583 hsa-miR-3916 hsa-miR-3125 hsa-let-7g hsa-miR-1323 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidC3orf52 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C3orf52
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C3orf52
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C3orf52
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C3orf52
    Sirion Biotech Customized lentivirus for stable overexpression of C3orf52 
                         Customized lentivirus expression plasmids for stable overexpression of C3orf52 
    Primer
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    OriGene qPCR primer pairs and template standards for C3orf52
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C3orf52
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C3orf52

    Additional mRNA sequence: 

    AK026839.1 AK298076.1 AK303588.1 AY830714.1 BC017064.1 

    4 DOTS entries:

    DT.441662  DT.95151813  DT.99930797  DT.408543 

    24/62 AceView cDNA sequences (see all 62):

    BC041355 AA868604 BX104180 AK091769 AI192849 BC017064 AI566334 BQ433666 
    BM829478 BX498361 W88802 BX349316 AI650743 AI078184 AA211899 AA699297 
    NM_024616 BM193355 BF222797 AI911944 BP363008 AA641836 AA485191 BU527748 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C3orf52    About this scheme

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


    ECgene alternative splicing isoforms for C3orf52

    (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

    C3orf52 expression in normal human tissues (normalized intensities)      C3orf52 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAATGTGA
    C3orf52 Expression
    About this image


    C3orf52 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Positive Thymocytes Thymus
             cord blood   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Human Renal Mesangial Cells (HRMC)   
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Testis (Reproductive System)
             sperm   
     
     Pancreas (Endocrine System)
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...

    See C3orf52 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C3orf52

    SOURCE GeneReport for Unigene cluster: Hs.434247
        SABiosciences Custom PCR Arrays for C3orf52
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3orf52

    (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 C3orf52 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0165791 , 5 cDNA sequence, BC0165791, 5 76.01(n)1
    69.16(a)1
      16 (29.76 cM)5
    2129981  NM_145389.21  NP_663364.21 
     456268485 
    chicken
    (Gallus gallus)
    Aves C1H3orf521 chromosome 1 open reading frame, human C3orf52 51.65(n)
    43.96(a)
      418422  XM_416636.3  XP_416636.2 
    lizard
    (Anolis carolinensis)
    Reptilia C3orf526
    chromosome 3 open reading frame 52
    21(a)
    1 ↔ 1
    3(167596090-167611689)


    ENSEMBL Gene Tree for C3orf52 (if available)
    TreeFam Gene Tree for C3orf52 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C3orf52 gene
    1 SIMAP similar gene for C3orf52 using alignment to 1 protein entry:     H7C5J7_HUMAN:
    TTMP

    C3orf52 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) 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

    10/686 SNPs in C3orf52 are shown (see all 686)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20115881,2
    C,F,A,H--111803201(-) TAAAGA/CATTTA 2 -- us2k17Minor allele frequency- C:0.03MN NS EA WA 840
    rs1449354591,2
    --111803360(+) AACATG/TAGAAC 2 -- us2k10--------
    rs738563621,2
    C,F--111803513(+) GGGGGC/AGTGAG 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs748803151,2
    C,F--111803555(+) CAGGCA/CTGGAG 2 -- us2k12Minor allele frequency- C:0.04WA EA 238
    rs761644811,2
    C,F--111803669(+) GGATGG/CGGGTG 2 -- us2k11Minor allele frequency- C:0.05EA 120
    rs42806071,2
    C,A--111803685(+) AATCAA/GAAGTT 2 -- us2k10--------
    rs7460271,2
    C,F,A,H--111803689(-) CTCAAC/ACTTCT 2 -- us2k115Minor allele frequency- A:0.46NA EA NS WA CSA 787
    rs7460261,2
    C,F,A,H--111803696(-) GACACG/CTCTCA 2 -- us2k118Minor allele frequency- C:0.48NS EA NA WA CSA 1138
    rs7326861,2
    C,F,H--111803780(-) AGCCAT/CTGAAG 2 -- us2k117Minor allele frequency- C:0.09NS EA NA 2264
    rs799387561,2
    C--111804012(+) AGACT-/CCCCCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for C3orf52 (111805182 - 111849851 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C3orf52: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C3orf52
    DNA2.0 Custom Variant and Variant Library Synthesis for C3orf52

    (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: 611956    OMIM disorders: --

    2 diseases for C3orf52:    About MalaCards
    pancreatic cancer    pancreatitis


    C3orf52 for disorders           About GeneDecksing


    Export disorders for C3orf52 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 C3orf52 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C3orf52)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and in silico characterization of a novel gene: TPA induced trans-membrane protein. (PubMed id 15737651)1, 2, 3 Chan C.-Y.... Adrian T.E. (2005)
    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. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    7. 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)

    (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: 79669 HGNC: 26255 AceView: FLJ23186 Ensembl:ENSG00000114529 euGenes: HUgn79669
    ECgene: C3orf52 H-InvDB: C3orf52

    (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 C3orf52 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 C3orf52 gene:
    Search GeneIP for patents involving C3orf52

    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
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    About This Section

     
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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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