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

Gene ID: 402415, updated on 28-Oct-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
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Genomic context

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See XKRX in Genome Data Viewer
Location:
Xq22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (100886916..100959343, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99329581..99402028, complement)
RS_2024_09 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 ARF 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 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_2024_08

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

Gene LinkOut

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