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XKR6 Gene

protein-coding   GIFtS: 45
GCID: GC08M010794

XK, Kell Blood Group Complex Subunit-Related Family, Member...

(Previous names: chromosome 8 open reading frame 7, chromosome 8 open reading...)
(Previous symbols: C8orf7, C8orf21, C8orf5)
  See related diseases
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 Family, Member 61 2     Chromosome 8 Open Reading Frame 211
C8orf211 2 3     Chromosome 8 Open Reading Frame 51
C8orf51 2 3     Chromosome 8 Open Reading Frame 71
C8orf71 2 3     Transmembrane Protein C8orf52
X Kell Blood Group Precursor-Related Family, Member 61 2     XK-Related Protein 62
XRG62 3     

External Ids:    HGNC: 278061   Entrez Gene: 2860462   Ensembl: ENSG000001710447   UniProtKB: Q5GH733   

Export aliases for XKR6 gene to outside databases

Previous GC identifer: GC08M009683


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for XKR6 Gene:
XKR6 (XK, Kell blood group complex subunit-related family, member 6) is a protein-coding gene. Diseases associated with XKR6 include keratolytic winter erythema, and hydrocele. An important paralog of this gene is XKR8.


(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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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_077531.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the XKR6 gene promoter:
         RP58   RREB-1   FOXO3   Tal-1beta   FOXO3b   RORalpha1   c-Rel   FOXO3a   NF-kappaB1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXKR6 promoter sequence
   Search Chromatin IP Primers for XKR6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XKR6


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

XKR6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XKR6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M010794:  view genomic region     (about GC identifiers)

Start:
10,753,555 bp from pter      End:
11,058,875 bp from pter
Size:
305,321 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: XKR6_HUMAN, Q5GH73 (See protein sequence)
Recommended Name: XK-related protein 6  
Size: 641 amino acids; 71638 Da
Secondary accessions: Q8TBA0
Alternative splicing: 2 isoforms:  Q5GH73-1   Q5GH73-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XKR6: NX_Q5GH73

Explore proteomics data for XKR6 at MOPED


See XKR6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_775954.2  
ENSEMBL proteins: 
 ENSP00000371900   ENSP00000416707   ENSP00000436594   ENSP00000297303   ENSP00000307120  

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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 Q5GH73

ProtoNet protein and cluster: Q5GH73

UniProtKB/Swiss-Prot: XKR6_HUMAN, Q5GH73
Similarity: Belongs to the XK family


XKR6 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:
     2 GenomeRNAi human phenotypes for XKR6:
 Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XKR6
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miRTarBase miRNAs that target XKR6:
hsa-mir-335-5p (MIRT017113)

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Selected qRT-PCR Assays for microRNAs that regulate XKR6 (see all 59):
hsa-miR-3164 hsa-miR-642a hsa-miR-19b-2* hsa-miR-429 hsa-miR-4272 hsa-miR-1260b hsa-miR-29a hsa-miR-507
SwitchGear 3'UTR luciferase reporter plasmidXKR6 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat XKR6

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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
XKR6_HUMAN, Q5GH73: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
cytoskeleton1
nucleus1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

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

XKR6 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 XKR6
Interactions:

    Search GeneGlobe Interaction Network for XKR6

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

1 Interacting protein for XKR6 (ENSP000004167074) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ELAVL1ENSP000003852694STRING: ENSP00000385269
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 XKR6



(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 XKR6 gene: 
NM_173683.3  

Unigene Clusters for XKR6:

XK, Kell blood group complex subunit-related family, member 6
Hs.657083  [show with all ESTs], Hs.665456  [show with all ESTs]
Unigene Representative Sequences: AJ305312, AK056119
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000382461 ENST00000416569(uc003wtk.1) ENST00000529336 ENST00000297303
ENST00000304437
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate XKR6 (see all 59):
hsa-miR-3164 hsa-miR-642a hsa-miR-19b-2* hsa-miR-429 hsa-miR-4272 hsa-miR-1260b hsa-miR-29a hsa-miR-507
SwitchGear 3'UTR luciferase reporter plasmidXKR6 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat XKR6
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XKR6
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for XKR6
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XKR6
  QuantiTect SYBR Green Assays in human, mouse, rat XKR6
  QuantiFast Probe-based Assays in human, mouse, rat XKR6

Additional mRNA sequence: AK056119.1 

2 DOTS entries:

DT.95098285  DT.425308 

10 AceView cDNA sequences:

NM_173683 AJ301560 BM682977 BC024146 CA430193 BM718993 AA889040 BE561717 
BM701602 BF877724 

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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XKR6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGACAGGATA
XKR6 Expression
About this image

XKR6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

XKR6 Protein Expression

SOURCE GeneReport for Unigene clusters: Hs.657083 Hs.665456
    Custom PCR Arrays for XKR6
Primer
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QuantiFast Probe-based Assays in human, mouse, rat XKR6
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XKR6

(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 animals.

Orthologs for XKR6 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Xkr61 , 5 X Kell blood group precursor related family member more1, 5 92.62(n)1
92.78(a)1
  14 (33.34 cM)5
2191491  NM_173393.21  NP_775569.21 
 636065035 
chicken
(Gallus gallus)
Aves XKR61 XK, Kell blood group complex subunit-related family, more 87.06(n)
91.53(a)
  422029  XM_420037.4  XP_420037.3 
lizard
(Anolis carolinensis)
Reptilia XKR66
XK, Kell blood group complex subunit-related famil...
91(a)
1 ↔ 1
GL343553.1(319353-325150)
African clawed frog
(Xenopus laevis)
Amphibia Xl.170182 Xenopus laevis transcribed sequence with weak similarity more 89.34(n)    BM260419.1 
zebrafish
(Danio rerio)
Actinopterygii xkr61 XK, Kell blood group complex subunit-related family, more 71.99(n)
75.52(a)
  792104  NM_001012257.1  NP_001012257.1 
fruit fly
(Drosophila melanogaster)
Insecta CG325791 CG32579 38.1(n)
27.44(a)
  318096  NM_001272677.1  NP_001259606.1 
worm
(Caenorhabditis elegans)
Secernentea ced-81 ced-8 42(n)
28.79(a)
  184190  NM_077026.6  NP_509427.2 


ENSEMBL Gene Tree for XKR6 (if available)
TreeFam Gene Tree for XKR6 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for XKR6 gene
XKR82  XKR72  XKR92  XKR42  
3 SIMAP similar genes for XKR6 using alignment to 3 protein entries:     XKR6_HUMAN (see all proteins):
C8orf7    XKR7    XKR4

XKR6 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 XKR6 (see all 7997)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs678637091,2
C--9717513(-) GAGAC-/CTTCTCTG 1 -- int12Minor allele frequency- CTT:0.25NA 4
rs351730041,2
C--9857451(+) GGTCA-/GTAA  
        
AGATT
1 -- int11Minor allele frequency- GTAA:0.00NA 2
rs1925076581,2
--10753208(+) CCAGTA/GAGGCC 1 -- ds50010--------
rs1846879581,2
--10753215(+) GGCCCA/GAGGGG 1 -- ds50010--------
rs1889056021,2
--10753222(+) GGGGAC/TCCCCG 1 -- ds50010--------
rs787720771,2
C--10753272(+) AAGGAC/TGCATG 1 -- ds50010--------
rs1814845521,2
--10753273(+) AGGACA/GCATGA 1 -- ds50010--------
rs112500841,2
C,F,A,H--10753312(+) GCATAG/CAGTTT 1 -- ds500116Minor allele frequency- C:0.39NA NS EA WA CSA 813
rs1504393811,2
--10753351(+) AAACAA/TAAAAG 1 -- ds50010--------
rs735335611,2
C--10753485(+) GAGAAC/TAGTTC 1 -- ds50010--------

HapMap Linkage Disequilibrium report for XKR6 (10753555 - 11003555 bp, first 250kb of XKR6)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for XKR6 (see all 17):    About this table    
Variant IDTypeSubtypePubMed ID
esv1926132CNV Deletion18987734
esv2736599CNV Deletion23290073
esv2147573CNV Deletion18987734
esv2667237CNV Deletion23128226
esv2506669CNV Insertion19546169
esv1732990CNV Insertion17803354
esv1006630CNV Insertion20482838
dgv448n21CNV Loss19592680
nsv397981CNV Loss16902084
nsv519941CNV Loss19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing XKR6
DNA2.0 Custom Variant and Variant Library Synthesis for XKR6

(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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5 diseases for XKR6:    
About MalaCards
keratolytic winter erythema    hydrocele    systemic lupus erythematosus    lupus erythematosus
malaria

1 disease from the University of Copenhagen DISEASES database for XKR6:
Hydrocele

XKR6 for disorders           About GeneDecksing

Genetic Association Database (GAD): XKR6
Human Genome Epidemiology (HuGE) Navigator: XKR6 (5 documents)

Export disorders for XKR6 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 XKR6 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with XKR6)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PubMed id 20962850)1, 4 Budarf M.L....Rioux J.D. (Genes Immun. 2011)
  2. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. (PubMed id 20160193)1, 4 Weissglas-Volkov D....Pajukanta P. (Circ Cardiovasc Genet 2010)
  3. Common variants at 30 loci contribute to polygenic dyslipidemia. (PubMed id 19060906)1, 4 Kathiresan S....Cupples L.A. (Nat. Genet. 2009)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. (PubMed id 20972250)1 Park M.H....Park H.Y. (J. Med. Genet. 2011)
  6. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (Nature 2010)
  7. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. (PubMed id 21060863)1 Ikram M.K....Wong T.Y. (PLoS Genet. 2010)
  8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
  9. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

(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: 286046 HGNC: 27806 AceView: C8orf21andC8orf7 Ensembl:ENSG00000171044 euGenes: HUgn286046
ECgene: XKR6 H-InvDB: XKR6

(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 XKR6 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 XKR6 gene:
Search GeneIP for patents involving XKR6

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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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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