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

C19orf44 Gene

protein-coding   GIFtS: 40
GCID: GC19P016607

chromosome 19 open reading frame 44

  Search for C19orf44
in our new
 Human Malady Compendium 
Biological research products
for C19orf44
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 19 Open Reading Frame 441 2
FLJ217421
Uncharacterized Protein C19orf442

External Ids:    HGNC: 261411   Entrez Gene: 841672   Ensembl: ENSG000001050727   UniProtKB: Q9H6X53   

Export aliases for C19orf44 gene to outside databases

Previous GC identifers: GC19P016469 GC19P016175


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C19orf44 gene promoter:
         MEF-2   CUTL1   E47   MEF-2A   POU2F1   POU2F1a   Hand1   aMEF-2   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C19orf44

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf44


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

C19orf44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf44 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P016607:  view genomic region     (about GC identifiers)

Start:
16,607,205 bp from pter      End:
16,632,163 bp from pter
Size:
24,959 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CS044_HUMAN, Q9H6X5 (See protein sequence)
Recommended Name: Uncharacterized protein C19orf44  
Size: 657 amino acids; 71343 Da
Secondary accessions: Q8N6Y7
Alternative splicing: 2 isoforms:  Q9H6X5-1   Q9H6X5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C19orf44: NX_Q9H6X5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H6X5

  • C19orf44 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115583.1  
    ENSEMBL proteins: 
     ENSP00000221671  

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

    ProtoNet protein and cluster: Q9H6X5


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C19orf44

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for C19orf44 (Q9H6X52, 3 ENSP000002216714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC37Q165432, 3, ENSP000002220054MINT-8250800 I2D: score=2 STRING: ENSP00000222005
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C19orf44
    Search CenterWatch for drugs/clinical trials and news about C19orf44 / CS044 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C19orf44 gene: 
    NM_032207.2  

    Unigene Cluster for C19orf44:

    Chromosome 19 open reading frame 44
    Hs.631627  [show with all ESTs]
    Unigene Representative Sequence: NM_032207
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000221671(uc002nef.1 uc002neg.3 uc002neh.1 uc010eai.1)


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    Additional cDNA sequence: 

    AK025395.1 AK026145.1 AK225118.1 AK225678.1 AK297781.1 AK311324.1 BC027869.1 

    13 DOTS entries:

    DT.410544  DT.95154495  DT.86855037  DT.97846751  DT.121500563  DT.318015  DT.95090896  DT.97804090 
    DT.100781339  DT.102832361  DT.121500662  DT.95089315  DT.91991483 

    24/55 AceView cDNA sequences (see all 55):

    BC027869 BP376932 BX356390 AA769416 BF530070 BM799214 BU622506 BP343413 
    AK025395 NM_032207 BM547844 AI668904 BG337777 AI138550 BG339227 BM835742 
    AA045397 BX485865 BI769643 BX356389 BX105957 AA437057 BX507597 BM699609 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf44    About this scheme

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


    ECgene alternative splicing isoforms for C19orf44

    (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

    C19orf44 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCTGGATGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    C19orf44 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C19orf44 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C19orf44

    SOURCE GeneReport for Unigene cluster: Hs.631627
        SABiosciences Custom PCR Arrays for C19orf44
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf44

    (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 C19orf44 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700030K09Rik1 , 5 RIKEN cDNA 1700030K09 gene1, 5 66.23(n)1
    54.35(a)1
      8 (35.08 cM)5
    722541  NM_028170.21  NP_082446.21 
     724438805 
    chicken
    (Gallus gallus)
    Aves C28H19orf441 chromosome 28 open reading frame, human C19orf44 41.6(n)
    30.83(a)
      420145  XM_418261.3  XP_418261.3 
    lizard
    (Anolis carolinensis)
    Reptilia C19orf446
    --
    33(a)
    1 ↔ 1
    AAWZ02036422(2221-5057)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7968361 uncharacterized protein C19orf44-like 46.48(n)
    37.87(a)
      796836  XM_001337197.4  XP_001337233.2 


    ENSEMBL Gene Tree for C19orf44 (if available)
    TreeFam Gene Tree for C19orf44 (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, UniProtKB, 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

    10/393 NCBI SNPs in C19orf44 are shown (see all 393    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81034271,2
    C,F,--16605386(+) cagacT/Cggttt 2 -- us2k1 int11Minor allele frequency- C:0.05WA 118
    rs1861538941,2
    --16605396(+) TTGAAC/TTCCTG 2 -- int1 us2k10--------
    rs1918757411,2
    --16605404(+) CTGACC/TTCATG 2 -- int1 us2k10--------
    rs1507577351,2
    --16605461(+) GCCACC/TGCGCC 2 -- us2k1 int10--------
    rs796869541,2
    --16605812(+) AGGCCT/GAGGCA 2 -- us2k1 int11Minor allele frequency- G:0.00NA 2
    rs1858068821,2
    --16605954(+) ATCACC/TTGAAC 2 -- int1 us2k10--------
    rs1382667461,2
    --16605969(+) GAGACA/GGAGGT 2 -- us2k1 int10--------
    rs1906615911,2
    --16606015(+) CTAGGC/TGACAG 2 -- int1 us2k10--------
    rs104095181,2
    C,F,A,H,--16606070(+) ATCTTC/TGGCAA 2 -- us2k1 int122Minor allele frequency- T:0.21NS EA NA WA 2346
    rs1825190721,2
    --16606212(+) TAAAAA/GTACAA 2 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for C19orf44 (16607205 - 16632163 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C19orf44: --

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    (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.)
    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 C19orf44 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C19orf44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    3. 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)
    4. Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)1 Matsumoto M....Nakayama K.I. (2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 84167 HGNC: 26141 AceView: FLJ21742 Ensembl:ENSG00000105072 euGenes: HUgn84167
    ECgene: C19orf44 H-InvDB: C19orf44

    (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 C19orf44 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 C19orf44 gene:
    Search GeneIP for patents involving C19orf44

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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