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C18orf25 Gene

protein-coding   GIFtS: 45
GCID: GC18P043753

Chromosome 18 Open Reading Frame 25

  Search for C18orf25
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
Chromosome 18 Open Reading Frame 251 2
ARKadia-Like 11 2
ARKL12
RNF111L12
Uncharacterized Protein C18orf252

External Ids:    HGNC: 281721   Entrez Gene: 1473392   Ensembl: ENSG000001522427   UniProtKB: Q96B233   

Export aliases for C18orf25 gene to outside databases

Previous GC identifers: GC18P042049 GC18P040611


(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 C18orf25 Gene:
C18orf25 (chromosome 18 open reading frame 25) is a protein-coding gene.


(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  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the C18orf25 gene promoter:
         MEF-2A   POU2F1   AML1a   POU2F1a   Nkx2-5   CUTL1   aMEF-2   Roaz   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C18orf25

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C18orf25


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21.1

C18orf25 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C18orf25 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P043753:  view genomic region     (about GC identifiers)

Start:
43,753,519 bp from pter      End:
43,846,955 bp from pter
Size:
93,437 bases      Orientation:
plus 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: CR025_HUMAN, Q96B23 (See protein sequence)
Recommended Name: Uncharacterized protein C18orf25  
Size: 403 amino acids; 43324 Da
Secondary accessions: A8K123 A8KAB6 Q5XG78 Q6N058 Q86TB5 Q8TCQ5
Alternative splicing: 2 isoforms:  Q96B23-1   Q96B23-2   

Explore the universe of human proteins at neXtProt for C18orf25: NX_Q96B23

Explore proteomics data for C18orf25 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C18orf25 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008240.1  NP_659492.1  

    ENSEMBL proteins: 
     ENSP00000467826   ENSP00000468128   ENSP00000282059   ENSP00000324294  

    C18orf25 Human Recombinant Protein Products:

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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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    ProtoNet protein and cluster: Q96B23


    (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 C18orf25
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C18orf25
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    miRNA
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    miRTarBase miRNAs that target C18orf25:
    hsa-mir-183-5p (MIRT047073), hsa-mir-26b-5p (MIRT029834)

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    Selected qRT-PCR Assays for microRNAs that regulate C18orf25 (see all 119):
    hsa-miR-548j hsa-miR-3678-3p hsa-miR-607 hsa-miR-3938 hsa-miR-3146 hsa-miR-300 hsa-miR-218-1* hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidC18orf25 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C18orf25

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C18orf25


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    peroxisome1

    (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 C18orf25
    Interactions:

        Search GeneGlobe Interaction Network for C18orf25

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for C18orf25 (Q96B232, 3 ENSP000002820594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2IP632793, ENSP000003248974I2D: score=3 STRING: ENSP00000324897
    SUMO2ENSP000004059654STRING: ENSP00000405965
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    --Q7KZS03, 2MINT-66241 I2D: score=1 
    --Q7KZS03, 2MINT-66241 I2D: score=1 
    About this table

    (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 C18orf25 (CR025)



    (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 C18orf25 gene (2 alternative transcripts): 
    NM_001008239.2  NM_145055.3  

    Unigene Cluster for C18orf25:

    Chromosome 18 open reading frame 25
    Hs.116486  [show with all ESTs]
    Unigene Representative Sequence: NM_145055
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587591 ENST00000588730 ENST00000282059(uc002lbw.3) ENST00000321319(uc002lbx.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C18orf25 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C18orf25 (see all 119):
    hsa-miR-548j hsa-miR-3678-3p hsa-miR-607 hsa-miR-3938 hsa-miR-3146 hsa-miR-300 hsa-miR-218-1* hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidC18orf25 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C18orf25
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    GenScript: all cDNA clones in your preferred vector (see all 2): C18orf25 (NM_145055)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C18orf25
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      QuantiTect SYBR Green Assays in human, mouse, rat C18orf25
      QuantiFast Probe-based Assays in human, mouse, rat C18orf25

    Additional mRNA sequence: 

    AK289738.1 AK292981.1 AL713661.1 AL832027.2 BC016149.1 BC084579.1 BX640683.1 

    6 DOTS entries:

    DT.413343  DT.110089  DT.100665942  DT.100766631  DT.40111533  DT.91649075 

    Selected AceView cDNA sequences (see all 148):

    BM831606 BQ028224 BM980424 AI187711 AI190947 BP356366 AW473807 BM561576 
    BE220376 BM842939 BF740014 AI093177 BM845545 AA477381 CR625809 AA477133 
    CB146719 CD672303 BQ900436 AW675687 AI742199 BG289895 BG497739 BX090345 

    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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    C18orf25 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGATATAAA
    C18orf25 Expression
    About this image

    C18orf25 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C18orf25 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.116486
        Custom PCR Arrays for C18orf25
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    QuantiFast Probe-based Assays in human, mouse, rat C18orf25
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C18orf25

    (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 C18orf25 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 8030462N17Rik1 , 5 RIKEN cDNA 8030462N17 gene1, 5 92.23(n)1
    95.24(a)1
      18 (52.38 cM)5
    2121631  NM_178670.31  NP_848785.21 
     776332815 
    chicken
    (Gallus gallus)
    Aves CZH18ORF251 chromosome Z open reading frame, human C18orf25 82.38(n)
    86.6(a)
      416381  XM_004949038.1  XP_004949095.1 
    lizard
    (Anolis carolinensis)
    Reptilia C18orf256
    chromosome 18 open reading frame 25
    69(a)
    1 ↔ 1
    1(35007479-35040066)
    African clawed frog
    (Xenopus laevis)
    Amphibia mgc12909-prov2 hypothetical protein MGC68871 78.45(n)    BC055984.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:778381 zgc:77838 58.06(n)
    58.67(a)
      402980  NM_205680.1  NP_991243.1 


    ENSEMBL Gene Tree for C18orf25 (if available)
    TreeFam Gene Tree for C18orf25 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C18orf25 gene
    1 SIMAP similar gene for C18orf25 using alignment to 3 protein entries:     CR025_HUMAN (see all proteins):
    ARKL1

    C18orf25 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C18orf25
    PGOHUM00000241044


    (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 C18orf25 (see all 2005)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80843091,2
    C,F,A,H--43751993(+) CTTATT/CGGTAT 2 -- us2k129Minor allele frequency- C:0.44NS EA NA WA CSA 2904
    rs1814482511,2
    --43752123(+) AACCCC/TGTCTC 2 -- us2k10--------
    rs1135160671,2
    C--43752221(+) AACTCG/-GGGGG 2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1444208191,2
    --43752252(+) GATCGC/TGCCAC 2 -- us2k10--------
    rs1457311801,2
    C--43752267(+) CTCCAG/TCCTGG 2 -- us2k10--------
    rs1438693411,2
    --43752274(+) CTGGGC/TGACAG 2 -- us2k10--------
    rs1468822821,2
    C--43752291(+) ACTCTC/GTCTCA 2 -- us2k10--------
    rs620965281,2
    C,F--43752429(+) TACTTC/TAGTAT 2 -- us2k13Minor allele frequency- T:0.08NA 124
    rs1396748961,2
    --43752491(+) TGTATG/TAGTCC 2 -- us2k10--------
    rs1429370251,2
    C--43752657(+) CGAGTA/GAAATA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for C18orf25 (43753519 - 43846955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C18orf25:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675609CNV Deletion23128226
    nsv2278CNV Insertion18451855
    esv273961CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C18orf25
    DNA2.0 Custom Variant and Variant Library Synthesis for C18orf25

    (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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    C18orf25 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C18orf25 (1 document)

    Export disorders for C18orf25 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 C18orf25 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with C18orf25)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    2. 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)
    3. 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. (Genome Res. 2004)
    4. Identification of a novel protein interaction motif in the regulatory subunit of casein kinase 2. (PubMed id 24216761)1 Cao J.Y....Frappier L. (Mol. Cell. Biol. 2014)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Comparative proteomic analysis identifies a role for SUMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (Sci Signal 2011)

    (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: 147339 HGNC: 28172 AceView: C18orf25 Ensembl:ENSG00000152242 euGenes: HUgn147339
    ECgene: C18orf25 H-InvDB: C18orf25

    (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 C18orf25 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 C18orf25 gene:
    Search GeneIP for patents involving C18orf25

    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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