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

C17orf104 Gene

protein-coding   GIFtS: 37
GCID: GC17P042733

Chromosome 17 Open Reading Frame 104

  Search for C17orf104
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 17 Open Reading Frame 1041 2
Uncharacterized Protein C17orf1042

External Ids:    HGNC: 266701   Entrez Gene: 2840712   Ensembl: ENSG000001803367   UniProtKB: A2RUB13   
ORGUL members:         
NONCODE14:n340685      

Export aliases for C17orf104 gene to outside databases

Previous GC identifers: GC17P040099 GC17P038498


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

GeneCards Summary for C17orf104 Gene: 
C17orf104 (chromosome 17 open reading frame 104) is a protein-coding gene, and is affiliated with the lncRNA class.


(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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for C17orf104
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C17orf104

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf104


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

C17orf104 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf104 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P042733:  view genomic region     (about GC identifiers)

Start:
42,733,762 bp from pter      End:
42,767,676 bp from pter
Size:
33,915 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: CQ104_HUMAN, A2RUB1 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf104  
Size: 952 amino acids; 107559 Da
Sequence caution: Sequence=AAH35159.1; Type=Erroneous initiation; Sequence=AAI32823.1; Type=Erroneous initiation;
Sequence=AAI36643.1; Type=Erroneous initiation;
Secondary accessions: B4DXJ2 B5MD93 B9EGQ6 C4AM97 Q4G0Y1 Q8IVZ7 Q8NA45
Alternative splicing: 4 isoforms:  A2RUB1-4   A2RUB1-2   A2RUB1-1   A2RUB1-5   

Explore the universe of human proteins at neXtProt for C17orf104: NX_A2RUB1

Explore proteomics data for C17orf104 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A2RUB1

  • C17orf104 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C17orf104 Protein Expression
    REFSEQ proteins: NP_001138552.2  
    ENSEMBL proteins: 
     ENSP00000404941   ENSP00000386452   ENSP00000399809   ENSP00000397957   ENSP00000386586  
     ENSP00000467305   ENSP00000353028  

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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: A2RUB1


    (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

    Animal Models:
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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 C17orf104

    (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 C17orf104 (CQ104)

    Search CenterWatch for drugs/clinical trials and news about C17orf104 / CQ104

    (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,
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    About This Section

    REFSEQ mRNAs for C17orf104 gene (2 alternative transcripts): 
    NM_001033659.2  NM_001145080.2  

    Unigene Cluster for C17orf104:

    Chromosome 17 open reading frame 104
    Hs.349758  [show with all ESTs]
    Unigene Representative Sequence: NM_001145080
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425535 ENST00000409122(uc002iha.3 uc010wja.1) ENST00000432494
    ENST00000456912 ENST00000409464(uc002igy.1 uc002igz.3) ENST00000472403
    ENST00000588805 ENST00000359945
    miRNA
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    Additional mRNA sequence: 

    AK093167.1 AK096357.1 AK097747.1 BC041481.2 

    6 DOTS entries:

    DT.120928716  DT.95364085  DT.40284206  DT.434525  DT.95150054  DT.95142039 

    24/34 AceView cDNA sequences (see all 34):

    AI066743 BE674342 AA205131 AA429502 AI245284 AA969496 AW169992 AA205120 
    AK097747 AA429503 BX095544 AW449752 AI458175 BC041481 AK096357 AK093167 
    BU854060 BC035159 AX747969 BE504744 AA723746 AI652490 BU570001 BI868515 

    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

    C17orf104 expression in normal human tissues (normalized intensities)      C17orf104 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGCACTC
    C17orf104 Expression
    About this image


    C17orf104 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Gonad
             XX Germ Cells Ovigerous Cord

    See C17orf104 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C17orf104

    SOURCE GeneReport for Unigene cluster: Hs.349758
        SABiosciences Custom PCR Arrays for C17orf104
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf104

    (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 animals.

    Orthologs for C17orf104 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm15641 , 5 predicted gene 15641, 5 90.61(n)1
    88.64(a)1
      11 (66.48 cM)5
    2684911  NM_001127576.11  NP_001121048.11 
     1026637165 
    chicken
    (Gallus gallus)
    Aves C27H17orf1041 chromosome 27 open reading frame, human C17orf104 67.87(n)
    58.64(a)
      771115  XM_001234413.2  XP_001234414.2 
    lizard
    (Anolis carolinensis)
    Reptilia C17orf1046
    C17ORF1046
    Uncharacterized protein
    67(a)
    38(a)
    1 ↔ 1
    possible ortholog
    6(63732260-63756181)
    6(3144339-3156580)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005381541 uncharacterized protein C17orf104-like 47.3(n)
    38.34(a)
      100538154  XM_003198126.1  XP_003198174.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y39A1A.96
    Protein Y39A1A.9
    22(a)
    1 ↔ 1
    III(10630078-10633501)


    ENSEMBL Gene Tree for C17orf104 (if available)
    TreeFam Gene Tree for C17orf104 (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

    10/359 SNPs in C17orf104 are shown (see all 359)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1445718491,2
    --42731830(+) TGCAGA/GTACCT 1 -- us2k10--------
    rs99729271,2
    C,F,A,H--42731982(+) GGCACA/G/TAGCCA 1 -- us2k114NA WA CSA EA 377
    rs124533851,2
    C,H--42732182(+) TACTGC/TGTTTA 1 -- us2k10--------
    rs1159259101,2
    F--42732242(+) AAACTA/GGCATT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs72232381,2
    C,F,A--42732432(+) CCCCCT/CACCCC 1 -- us2k16Minor allele frequency- C:0.43NA WA CSA EA 363
    rs1506715011,2
    --42732507(+) GCTCAC/GGCCTG 1 -- us2k10--------
    rs1912981171,2
    --42732638(+) GTGGCA/GTGGGC 1 -- us2k10--------
    rs1128389291,2
    C--42732729(+) CCACCG/ACACTC 1 -- us2k13Minor allele frequency- A:0.09CSA NA EA 241
    rs2016515381,2
    --42732902(+) CCCAA-/CCCCCC 1 -- us2k10--------
    rs1388850051,2
    --42732903(+) CCAACC/TCCCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C17orf104 (42733762 - 42767676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C17orf104:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908287CNV Loss21882294
    nsv112452CNV Loss16902084
    nsv908286CNV Loss21882294
    nsv828020CNV Gain20364138
    nsv833456CNV Gain+Loss17160897

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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
      --

    (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 C17orf104 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C17orf104)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    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. (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. (2002)
    5. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (1996)

    (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: 284071 HGNC: 26670 AceView: FLJ35848 Ensembl:ENSG00000180336 euGenes: HUgn284071
    ECgene: C17orf104 H-InvDB: C17orf104

    (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 C17orf104 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 C17orf104 gene:
    Search GeneIP for patents involving C17orf104

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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