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XKRX Gene

protein-coding   GIFtS: 40
GCID: GC0XM100168

XK, Kell Blood Group Complex Subunit-Related, X-Linked

(Previous names: X Kell blood group precursor-related, X-linked)
  Search for XKRX
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
XK, Kell Blood Group Complex Subunit-Related, X-Linked1 2     X Kell Blood Group Precursor-Related, X-Linked1 2
XKR22 3 5     Membrane Protein XPLAC2 3
XPLAC2 3 5     XK-Related Protein 22
XRG22 3 5     X Kell Blood Group-Related, X-Linked3

External Ids:    HGNC: 298451   Entrez Gene: 4024152   Ensembl: ENSG000001824897   OMIM: 3006845   UniProtKB: Q6PP773   

Export aliases for XKRX gene to outside databases

Previous GC identifers: GC0XM098942 GC0XM099974 GC0XM100055 GC0XM089966


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for XKRX Gene:
This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system.
The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may
function as a membrane transporter. (provided by RefSeq, May 2010)

GeneCards Summary for XKRX Gene:
XKRX (XK, Kell blood group complex subunit-related, X-linked) is a protein-coding gene. An important paralog of this gene is XK.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the XKRX gene promoter:
         HFH-1   FOXO1a   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   ITF-2   Tal-1beta   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXKRX promoter sequence
   Search Chromatin IP Primers for XKRX

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


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

Entrez Gene cytogenetic band: Xq22.1   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM100168:  view genomic region     (about GC identifiers)

Start:
100,168,431 bp from pter      End:
100,184,422 bp from pter
Size:
15,992 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: XKR2_HUMAN, Q6PP77 (See protein sequence)
Recommended Name: XK-related protein 2  
Size: 449 amino acids; 52052 Da
Sequence caution: Sequence=AAI37011.1; Type=Erroneous initiation; Sequence=AAI37012.1; Type=Erroneous initiation;
Sequence=AAT00456.1; Type=Erroneous initiation; Sequence=AAT07088.1; Type=Erroneous initiation;
Secondary accessions: B2RNN6 B4DKU2 Q5H9J6
Alternative splicing: 2 isoforms:  Q6PP77-1   Q6PP77-2   

Explore the universe of human proteins at neXtProt for XKRX: NX_Q6PP77

Explore proteomics data for XKRX at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_997724.2  
    ENSEMBL proteins: 
     ENSP00000362047   ENSP00000419884   ENSP00000327570  

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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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    1 InterPro protein domain:
     IPR018629 Transport_prot_XK

    Graphical View of Domain Structure for InterPro Entry Q6PP77

    ProtoNet protein and cluster: Q6PP77

    UniProtKB/Swiss-Prot: XKR2_HUMAN, Q6PP77
    Similarity: Belongs to the XK family


    XKRX for domains           About GeneDecksing


    (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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    Phenotypes:
         1 GenomeRNAi human phenotype for XKRX:
     Increased S DNA content 

    Animal Models:
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    hsa-miR-579 hsa-miR-320a hsa-miR-125a-5p hsa-miR-3921 hsa-miR-1297 hsa-miR-3150a-3p hsa-miR-3692 hsa-miR-320e
    SwitchGear 3'UTR luciferase reporter plasmidXKRX 3' UTR sequence
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    (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 UniProtKB/Swiss-Prot
    XKR2_HUMAN, Q6PP77: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    XKRX for ontologies           About GeneDecksing


    (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 XKRX
    Interactions:

        Search GeneGlobe Interaction Network for XKRX

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

    1 Interacting protein for XKRX (Q6PP773 ENSP000003275704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    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 XKRX (XKR2)



    (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,
    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 XKRX gene: 
    NM_212559.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372956 ENST00000468904 ENST00000328526(uc004egn.2 uc011mre.1)

    miRNA
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    hsa-miR-579 hsa-miR-320a hsa-miR-125a-5p hsa-miR-3921 hsa-miR-1297 hsa-miR-3150a-3p hsa-miR-3692 hsa-miR-320e
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      QuantiFast Probe-based Assays in human, mouse, rat XKRX

    16 AceView cDNA sequences:

    AA257106 AA856735 AI761820 NM_212559 AY589511 BX116685 AA256009 BG675952 
    BU682540 H87640 AI087330 BF509819 H87629 AA648723 AA588027 H87641 

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

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

    XKRX Protein Expression

    UniProtKB/Swiss-Prot: XKR2_HUMAN, Q6PP77
    Tissue specificity: Expressed predominantly in the placenta, in syncytiotrophoblasts. Moderate levels in the
    adrenal gland, low levels in the trachea and very low levels in the bone marrow

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for XKRX gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xkrx1 , 5 X Kell blood group precursor related X linked1, 5 90.57(n)1
    91.98(a)1
      X (55.85 cM)5
    3315241  NM_183319.21  NP_899142.21 
     1341490435 
    chicken
    (Gallus gallus)
    Aves XKRX1 XK, Kell blood group complex subunit-related, X-linked 59.63(n)
    53.26(a)
      771005  XM_004940698.1  XP_004940755.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia xkrx1 XK, Kell blood group complex subunit-related, X-linked 58.33(n)
    52.1(a)
      448274  NM_001006125.1  NP_001006125.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xkrx1 XK, Kell blood group complex subunit-related, X-linked 55.25(n)
    47.64(a)
      492765  NM_001007406.1  NP_001007407.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XKRX gene
    XK2  XKR32  
    4 SIMAP similar genes for XKRX using alignment to 2 protein entries:     XKR2_HUMAN (see all proteins):
    XK    XKR3    XKRY2    XKRY

    XKRX 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), 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 XKRX (see all 307)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428398571,2
    --89984193(+) CAGGAA/GTTTGA 1 -- us2k10--------
    rs1475433831,2
    --100134241(+) AGACCA/GAGGCG 1 -- ds50010--------
    rs1902982991,2
    --100134269(+) CAGGAA/GTTCGA 1 -- ds50010--------
    rs1821794311,2
    --100134314(+) TACTAA/CAAATA 1 -- ds50010--------
    rs595546631,2
    C--100134343(+) GGTGGC/TGGGCG 1 -- ds50010--------
    rs1849242301,2
    --100134368(+) TACTCA/GGGAGG 1 -- ds50010--------
    rs1897286481,2
    --100134402(+) CCCAGG/TAGGCA 1 -- ds50010--------
    rs2015854841,2
    C--100134462(+) AGAGC-/GAGACTC 1 -- ds50010--------
    rs59208721,2
    C--100134505(+) CTCCTC/GTAGGC 1 -- ds50010--------
    rs1476822221,2
    --100134529(+) GATGAC/TGATTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for XKRX (100168431 - 100184422 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for XKRX: --
    Human Gene Mutation Database (HGMD): XKRX
    Locus Specific Mutation Databases (LSDB): XKRX

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 300684    OMIM disorders: --


    XKRX for disorders           About GeneDecksing


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

    1. Identification of two new members, XPLAC and XTES, of the XK family. (PubMed id 16431037)1, 2 Calenda G.... Lee S. (Gene 2006)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 402415 HGNC: 29845 AceView: XKRX Ensembl:ENSG00000182489 euGenes: HUgn402415
    ECgene: XKRX H-InvDB: XKRX

    (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 XKRX 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 XKRX gene:
    Search GeneIP for patents involving XKRX

    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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