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    XKRX XK related X-linked [ Homo sapiens (human) ]

    Gene ID: 402415, updated on 5-Mar-2024

    Summary

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    Official Symbol
    XKRXprovided by HGNC
    Official Full Name
    XK related X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:29845
    See related
    Ensembl:ENSG00000182489 MIM:300684; AllianceGenome:HGNC:29845
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XKR2; XRG2; XPLAC
    Summary
    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]
    Expression
    Broad expression in skin (RPKM 2.6), lymph node (RPKM 0.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (100886916..100959343, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99329581..99402028, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100168434..100183906, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29805 Neighboring gene cleavage stimulation factor subunit 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 26 Neighboring gene NADPH oxidase 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 27 Neighboring gene NANOG hESC enhancer GRCh37_chrX:100150382-100150883 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:100182110-100183309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29806 Neighboring gene NSA2 pseudogene 3 Neighboring gene CSGALNACT2 pseudogene 1 Neighboring gene ADP ribosylation factor like GTPase 13A Neighboring gene ReSE screen-validated silencer GRCh37_chrX:100246331-100246526 Neighboring gene tRNA methyltransferase 2 homolog B Neighboring gene uncharacterized LOC124905285

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of two new members, XPLAC and XTES, of the XK family. Calenda G, et al. Gene, 2006 Mar 29. PMID 16431037
    2. Genome-Wide CRISPR-Cas9 Screen Reveals Selective Vulnerability of ATRX-Mutant Cancers to WEE1 Inhibition. Liang J, et al. Cancer Res, 2020 Feb 1. PMID 31551363
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ60646

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    XK-related protein 2
    Names
    X Kell blood group precursor-related, X-linked
    X-linked Kx blood group related, X-linked
    XK, Kell blood group complex subunit-related, X-linked
    membrane protein XPLAC

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021224.1 RefSeqGene

      Range
      4993..20465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_212559.3 → NP_997724.2  XK-related protein 2

      See identical proteins and their annotated locations for NP_997724.2

      Status: REVIEWED

      Source sequence(s)
      AI087330, AY589511, Z73417
      Consensus CDS
      CCDS14476.2
      UniProtKB/Swiss-Prot
      B2RNN6, B4DKU2, Q5H9J6, Q6PP77
      Related
      ENSP00000362047.2, ENST00000372956.3
      Conserved Domains (1) summary
      pfam09815
      Location:36 → 407
      XK-related; XK-related protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      100886916..100959343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530954.4 → XP_011529256.1  XK-related protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011529256.1

      Conserved Domains (1) summary
      pfam09815
      Location:49 → 369
      XK-related; XK-related protein

    2. XM_011530955.2 → XP_011529257.1  XK-related protein 2 isoform X2

      Conserved Domains (1) summary
      pfam09815
      Location:35 → 291
      XK-related; XK-related protein

    3. XM_017029517.2 → XP_016885006.1  XK-related protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q6PP77
      Conserved Domains (1) summary
      pfam09815
      Location:1 → 203
      XK-related; XK-related protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99329581..99402028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327053.1 → XP_054183028.1  XK-related protein 2 isoform X1

    2. XM_054327054.1 → XP_054183029.1  XK-related protein 2 isoform X2

    3. XM_054327055.1 → XP_054183030.1  XK-related protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PP77.2 GenPept UniProtKB/Swiss-Prot:Q6PP77

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