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

C6orf25 Gene

protein-coding   GIFtS: 51
GCID: GC06P031686

chromosome 6 open reading frame 25

 Explore 28 diseases affiliated with
C6orf25 via our new
 Human Malady Compendium 
Biological research products
for C6orf25
    

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

Aliases
Chromosome 6 Open Reading Frame 251 2
G6b1 2
NG311 2
Immunoglobulin Receptor2
Protein G6b2

External Ids:    HGNC: 139371   Entrez Gene: 807392   Ensembl: ENSG000002044207   OMIM: 6065205   UniProtKB: O958663   

Export aliases for C6orf25 gene to outside databases

Previous GC identifers: GC06P031754 GC06P031461 GC06P031795 GC06P031799 GC06P031477


(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 C6orf25:
This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex
(MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface
receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and
Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: G6B_HUMAN, O95866
Function: Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. Appears to
operate in a calcium-independent manner. Isoform B is a putative inhibitory receptor. Isoform A may be its activating
counterpart

Gene Wiki entry for C6orf25


(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_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C6orf25 gene promoter:
         Sp1   ITF-2   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C6orf25

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf25


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

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21

C6orf25 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf25 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031686:  view genomic region     (about GC identifiers)

Start:
31,686,371 bp from pter      End:
31,694,491 bp from pter
Size:
8,121 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,ALT_REF_LOCI_4 31,653,709-31,655,400      Chr6+,ALT_REF_LOCI_2 31,673,784-31,719,452      Chr6+,ALT_REF_LOCI_5 31,682,267-31,683,957     
Chr6+,ALT_REF_LOCI_6 31,676,607-31,718,665      Chr6+,ALT_REF_LOCI_3 31,668,544-31,686,062      Chr6+,ALT_REF_LOCI_7 31,611,443-31,613,133     

(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: G6B_HUMAN, O95866 (See protein sequence)
Recommended Name: Protein G6b precursor  
Size: 241 amino acids; 26163 Da
Subunit: Interacts with PTPN6 and PTPN11. Binds to heparin
Subcellular location: Isoform E: Endoplasmic reticulum. Golgi apparatus
Subcellular location: Isoform D: Endoplasmic reticulum. Golgi apparatus
Subcellular location: Isoform B: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform A: Cell membrane; Single-pass type I membrane protein
Secondary accessions: A2BEZ1 A2BEZ2 A2BEZ3 A2BEZ4 A2BEZ5 B0UXC4 B0UXC7 B0UXC8 B0V024 B0V026 Q14CK2
Q96A86 Q96A87 Q96A88 Q96A89 Q96A90 Q96A91
Alternative splicing: 7 isoforms:  O95866-1   O95866-2   O95866-3   O95866-4   O95866-5   O95866-6   O95866-7   

Explore the universe of human proteins at neXtProt for C6orf25: NX_O95866

Post-translational modifications:

  • All isoforms are N-glycosylated1
  • Isoform E is O-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95866

  • C6orf25 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_079536.2  NP_612116.1  NP_612117.1  NP_612118.1  NP_612119.1  NP_612121.1  

    ENSEMBL proteins: 
     ENSP00000419306   ENSP00000364968   ENSP00000364963   ENSP00000420355   ENSP00000364967  
     ENSP00000364962   ENSP00000364972   ENSP00000364964  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C6orf25

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane IDA11544253
    GO:0016021integral to membrane IEA--


    C6orf25 for ontologies           About GeneDecksing



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

    C6orf25 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry O95866

    ProtoNet protein and cluster: O95866

    1 Blocks protein family: IPB003599 Immunoglobulin subtype


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: G6B_HUMAN, O95866
    Function: Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. Appears to
    operate in a calcium-independent manner. Isoform B is a putative inhibitory receptor. Isoform A may be its activating
    counterpart

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0008201heparin binding IEA--


    C6orf25 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for C6orf25:
     Synthetic lethal with c-Myc af 


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C6orf25

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

    2 Interacting proteins for C6orf25 (O958662, 3 ENSP000003649644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061242, 3, ENSP000003409444MINT-8035965 I2D: score=3 STRING: ENSP00000340944
    PTPN6P293502, 3, ENSP000003915924MINT-8035954 I2D: score=3 STRING: ENSP00000391592
    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

    C6orf25 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C6orf25
    4 Novoseek chemical compound relationships for C6orf25 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 27.6 5 18684881 (1), 11544253 (1), 9103201 (1)
    sphingosine 26.5 1 15693752 (1)
    lipid 0 1 20140224 (1)
    calcium 0 1 15693752 (1)

    Search CenterWatch for drugs/clinical trials and news about C6orf25 / G6B 

    (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,
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    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 C6orf25 gene (7 alternative transcripts): 
    NM_025260.3  NM_138272.2  NM_138273.2  NM_138274.2  NM_138275.2  NM_138277.2  NM_138276.1  

    Unigene Cluster for C6orf25:

    Chromosome 6 open reading frame 25
    Hs.247879  [show with all ESTs]
    Unigene Representative Sequence: NM_138277
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460663 ENST00000480039(uc021yux.1) ENST00000375810 ENST00000375805
    ENST00000485548 ENST00000375809(uc011doc.2 uc003nwk.3 uc011dod.2 uc003nwn.3 uc011doe.2 uc003nwo.3)
    ENST00000466312 ENST00000375804 ENST00000375814 ENST00000471545 ENST00000375806


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    Additional cDNA sequence: 

    AJ292259.1 AJ292260.1 AJ292261.1 AJ292262.1 AJ292263.1 AJ292265.1 AK092392.1 BC113719.1 
    BC113721.1 BC143850.1 BX647860.1 

    8 DOTS entries:

    DT.95301631  DT.121311108  DT.91670895  DT.95368866  DT.95368864  DT.95368865  DT.100055534  DT.95368863 

    24/39 AceView cDNA sequences (see all 39):

    BX397581 BX644924 AX747518 AK092392 AJ292261 NM_138276 AJ292262 BX503539 
    AI190741 NM_138274 BX389560 NM_138273 NM_138277 BX389558 NM_138275 AJ292265 
    BI911004 BX503538 AJ292264 BU681844 NM_138272 AJ292260 AJ292263 NM_025260 

    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

    C6orf25 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGCCTGCCC

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

    About this image
    See C6orf25 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6orf25

    SOURCE GeneReport for Unigene cluster: Hs.247879

    UniProtKB/Swiss-Prot: G6B_HUMAN, O95866
    Tissue specificity: Expressed in a restricted set of hematopoietic cell lines including the erythroleukemia cell line
    K-562 and the T-cell leukemia cell lines MOLT-4 and Jurkat. Not detected in the monocyte-like cell line U-937, the
    B-cell-like cell line Raji, the fibroblast cell lines TK and HeLa, or the natural killer cell lines NKL, NK 62 and YT.
    Expressed in platelets

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    (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 human and mouse.

    Orthologs for C6orf25 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia G6b5
    AU0238711
    G6B protein5
    expressed sequence AU0238711
    77.92(n)1
    73.84(a)1
      17 (18.59 cM)5
    1067221  NM_001191012.11  NP_001177941.11 
     350644375 


    ENSEMBL Gene Tree for C6orf25 (if available)
    TreeFam Gene Tree for C6orf25 (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

    10/75 NCBI SNPs in C6orf25 are shown (see all 75    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs92815631,2
    C--31476847(+) aaaaa-/Agaata 6 -- us2k10--------
    rs559387401,2
    C--31477190(+) TTAAGC/TGAGAA 6 -- us2k10--------
    rs1129431891,2
    C,--31477329(+) CCCCCC/GCAACC 6 -- us2k10--------
    rs761661861,2
    C--31477392(+) GGCTGG/TGTTTC 12 G V mis10--------
    rs4232131,2
    C,H--31477399(-) AGCTGC/AAGAAA 12 /L syn1 ese36Minor allele frequency- A:0.00MN NS EA NA 600
    rs345470161,2
    C,F,--31477845(+) GACTCT/CGGTAT 12 /S syn12Minor allele frequency- C:0.00NA 3180
    rs4530981,2
    C,F,H,--31477881(-) GAGTCC/TCCCGC 12 G syn126Minor allele frequency- T:0.12MN NS EA NA CSA WA EU 6534
    rs172010181,2
    C,F,--31478074(+) TTGAGC/TGGGAC 6 -- int12Minor allele frequency- T:0.03MN WA 214
    rs558018251,2
    C--31478567(+) CTCAAA/GGACTC 6 -- int10--------
    rs115758451,2
    C,F,--31478610(+) CGATTC/GGACCA 10 R G F L mis1 int110Minor allele frequency- G:0.07NA NS EA WA EU 6603

    HapMap Linkage Disequilibrium report for C6orf25 (31686371 - 31694491 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C6orf25: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    C6orf25 for disorders           About GeneDecksing

    OMIM gene information: 606520    OMIM disorders: --

    20/28 diseases for C6orf25 (see all 28):    About MalaCards
    gray platelet syndrome    non-hodgkin lymphoma    lupus erythematosus    b-cell lymphomas
    hairy cell leukemia    systemic lupus erythematosus    hodgkin's lymphoma    rheumatoid arthritis
    chronic lymphocytic leukemia    lymphocytic leukemia    follicular lymphoma    kaposi's sarcoma
    cryoglobulinemia    intestinal disease    mastocytosis    pemphigus
    t-cell leukemia    hepatitis c    hepatitis b    arthritis

    9 Novoseek disease relationships for C6orf25 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma b-cell 31.4 1 16618777 (1)
    somatic mutations 30.3 1 1642656 (1)
    autoimmunity 14.6 1 12223069 (1)
    rheumatoid arthritis 13.5 1 10736104 (1)
    lymphoma non-hodgkins 9.35 1 11071657 (1)
    lupus erythematosus systemic 8.18 2 11604589 (1), 16504824 (1)
    lymphoma 3.61 3 15671532 (1), 7709821 (1), 9814592 (1)
    necrosis 0 1 20032102 (1)
    tumors 0 6 16618777 (1), 14989784 (1), 7709821 (1), 8988839 (1) (see all 6)

    Human Genome Epidemiology (HuGE) Navigator: C6orf25 (6 documents)

    Export disorders for C6orf25 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 C6orf25 gene, integrated from 9 sources (see all 112):
    (articles sorted by number of sources associating them with C6orf25)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. G6b, a novel immunoglobulin superfamily member encoded in the human major histocompatibility complex, interacts with SHP-1 and SHP-2. (PubMed id 11544253)1, 2, 3, 9 de Vet E.C....Campbell R.D. (2001)
    2. The novel inhibitory receptor G6B is expressed on the surface of platelets and attenuates platelet function in vitro. (PubMed id 17311996)1, 2 Newland S.A.... Campbell D.R. (2007)
    3. The cell surface receptor G6b, a member of the immunoglobulin superfamily, binds heparin. (PubMed id 15848171)1, 2 de Vet E.C.... Campbell R.D. (2005)
    4. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (2003)
    5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    7. Genes encoding three new members of the leukocyte antigen 6 superfamily and a novel member of Ig superfamily, together with genes encoding the regulatory nuclear chloride ion channel protein (hRNCC) and an N omega-N omega-dimethylarginine dimethylaminohydrolase homologue, are found in a 30-kb segment of the MHC class III region. (PubMed id 10384126)1, 3 Ribas G.... Campbell R.D. (1999)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    9. Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. (PubMed id 19143814)1 Valdes A.M. and Thomson G. (2009)
    10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80739 HGNC: 13937 AceView: C6orf25 Ensembl:ENSG00000204420 euGenes: HUgn80739
    ECgene: C6orf25 H-InvDB: C6orf25

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for C6orf25 Pharmacogenomics, SNPs, Pathways

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    Patent Information for C6orf25 gene:
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