Aliases for XKR6 Gene

Aliases for XKR6 Gene

  • XK Related 6 2 3 5
  • XK, Kell Blood Group Complex Subunit-Related Family, Member 6 2 3
  • X Kell Blood Group Precursor-Related Family, Member 6 2 3
  • XK-Related Protein 6 3 4
  • C8orf21 3 4
  • C8orf5 3 4
  • C8orf7 3 4
  • XRG6 3 4
  • Chromosome 8 Open Reading Frame 21 2
  • Chromosome 8 Open Reading Frame 7 2
  • Chromosome 8 Open Reading Frame 5 2
  • X-Linked Kx Blood Group Related 6 3
  • Transmembrane Protein C8orf5 3
  • XKR6 5

External Ids for XKR6 Gene

Previous HGNC Symbols for XKR6 Gene

  • C8orf7
  • C8orf21
  • C8orf5

Previous GeneCards Identifiers for XKR6 Gene

  • GC08M010794
  • GC08M009683

Summaries for XKR6 Gene

GeneCards Summary for XKR6 Gene

XKR6 (XK Related 6) is a Protein Coding gene. Diseases associated with XKR6 include Keratolytic Winter Erythema. An important paralog of this gene is XKR4.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XKR6 Gene

Genomics for XKR6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for XKR6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J011199 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.5 1502 4.3 ZNF207 ZNF600 JUND ZNF580 ATF2 POLR2A ZIC2 ZBTB10 YY1 ETS1 ENSG00000270076 HSALNG0063424-001 HSALNG0063425 XKR6 ENSG00000255310 LOC101929290 ENSG00000269918 ENSG00000254936 HSALNG0063420 TDH-AS1
GH08J011053 Enhancer 0.6 Ensembl ENCODE 10.1 +147.8 147832 3.6 JUND CTCF EGR2 MTA3 MNT ZFHX2 ENSG00000269918 ENSG00000255310 XKR6 ENSG00000254936 ENSG00000269954 HSALNG0063408 LOC101929269 PINX1
GH08J011138 Enhancer 0.6 Ensembl ENCODE 10.3 +62.4 62408 1.1 RAD21 CTCF EZH2 SMC3 ENSG00000254556 XKR6 lnc-FAM167A-5 PINX1
GH08J011178 Enhancer 0.4 FANTOM5 14.3 +22.9 22884 0.2 ZNF600 JUND FOS XKR6 ENSG00000254936 MTMR9 HSALNG0063420 HSALNG0063424-001 TDH-AS1 PINX1
GH08J011177 Enhancer 0.5 Ensembl 11.4 +24.1 24132 1.4 BATF KLF1 PRDM10 ZBTB20 KLF17 HIC1 SCRT2 ENSG00000255310 XKR6 ENSG00000254936 HSALNG0063420 HSALNG0063424-001 PINX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XKR6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XKR6

Top Transcription factor binding sites by QIAGEN in the XKR6 gene promoter:
  • c-Rel
  • FOXO3
  • FOXO3a
  • FOXO3b
  • ITF-2
  • NF-kappaB1
  • RORalpha1
  • RP58
  • RREB-1
  • Tal-1beta

Genomic Locations for XKR6 Gene

Latest Assembly
chr8:10,893,764-11,201,833
(GRCh38/hg38)
Size:
308,070 bases
Orientation:
Minus strand

Previous Assembly
chr8:10,753,555-11,059,342
(GRCh37/hg19 by Entrez Gene)
Size:
305,788 bases
Orientation:
Minus strand

chr8:10,753,555-11,058,875
(GRCh37/hg19 by Ensembl)
Size:
305,321 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):2,145,097-2,451,195 (+)

Genomic View for XKR6 Gene

Genes around XKR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XKR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XKR6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XKR6 Gene

Proteins for XKR6 Gene

  • Protein details for XKR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5GH73-XKR6_HUMAN
    Recommended name:
    XK-related protein 6
    Protein Accession:
    Q5GH73
    Secondary Accessions:
    • Q8TBA0

    Protein attributes for XKR6 Gene

    Size:
    641 amino acids
    Molecular mass:
    71638 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for XKR6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XKR6 Gene

Post-translational modifications for XKR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XKR6 Gene

No data available for DME Specific Peptides for XKR6 Gene

Domains & Families for XKR6 Gene

Gene Families for XKR6 Gene

Protein Domains for XKR6 Gene

InterPro:

Suggested Antigen Peptide Sequences for XKR6 Gene

GenScript: Design optimal peptide antigens:
  • XK-related protein 6 (XKR6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5GH73

UniProtKB/Swiss-Prot:

XKR6_HUMAN :
  • Belongs to the XK family.
Family:
  • Belongs to the XK family.
genes like me logo Genes that share domains with XKR6: view

Function for XKR6 Gene

Phenotypes From GWAS Catalog for XKR6 Gene

genes like me logo Genes that share phenotypes with XKR6: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XKR6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for XKR6 Gene

Localization for XKR6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XKR6 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XKR6 gene
Compartment Confidence
plasma membrane 4
extracellular 1
peroxisome 1
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XKR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with XKR6: view

Pathways & Interactions for XKR6 Gene

PathCards logo

SuperPathways for XKR6 Gene

No Data Available

Interacting Proteins for XKR6 Gene

Gene Ontology (GO) - Biological Process for XKR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043652 engulfment of apoptotic cell IBA 21873635
GO:0070782 phosphatidylserine exposure on apoptotic cell surface IBA 21873635
GO:1902742 apoptotic process involved in development IBA 21873635
genes like me logo Genes that share ontologies with XKR6: view

No data available for Pathways by source and SIGNOR curated interactions for XKR6 Gene

Drugs & Compounds for XKR6 Gene

No Compound Related Data Available

Transcripts for XKR6 Gene

mRNA/cDNA for XKR6 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XKR6

Alternative Splicing Database (ASD) splice patterns (SP) for XKR6 Gene

No ASD Table

Relevant External Links for XKR6 Gene

GeneLoc Exon Structure for
XKR6

Expression for XKR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XKR6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XKR6 Gene

This gene is overexpressed in Testis (x4.3).

Protein differential expression in normal tissues from HIPED for XKR6 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for XKR6 Gene



Protein tissue co-expression partners for XKR6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XKR6

SOURCE GeneReport for Unigene cluster for XKR6 Gene:

Hs.657083
genes like me logo Genes that share expression patterns with XKR6: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for XKR6 Gene

Orthologs for XKR6 Gene

This gene was present in the common ancestor of animals.

Orthologs for XKR6 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia XKR6 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia XKR6 29 30
  • 95.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia XKR6 29 30
  • 95.46 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia XKR6 29
  • 93.22 (n)
XKR5 30
  • 18 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Xkr6 29 16 30
  • 92.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Xkr6 29
  • 92.52 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 12 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves XKR6 29 30
  • 87.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia XKR6 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia xkr6 29
  • 80.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17018 29
Zebrafish
(Danio rerio)
Actinopterygii XKR6 (1 of 2) 30
  • 78 (a)
OneToMany
xkr6 29 30
  • 71.99 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000599 29
  • 46.78 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG32579 29 30
  • 38.1 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ced-8 29 30
  • 42 (n)
OneToMany
Species where no ortholog for XKR6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for XKR6 Gene

ENSEMBL:
Gene Tree for XKR6 (if available)
TreeFam:
Gene Tree for XKR6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XKR6: view image
Alliance of Genome Resources:
Additional Orthologs for XKR6

Paralogs for XKR6 Gene

Paralogs for XKR6 Gene

(3) SIMAP similar genes for XKR6 Gene using alignment to 3 proteins:

  • XKR6_HUMAN
  • H0YEU9_HUMAN
  • H7BYF9_HUMAN
genes like me logo Genes that share paralogs with XKR6: view

Variants for XKR6 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for XKR6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for XKR6 Gene

Variant ID Type Subtype PubMed ID
dgv448n21 CNV loss 19592680
dgv7011n100 CNV gain 25217958
dgv7013n100 CNV loss 25217958
esv1006630 CNV insertion 20482838
esv1732990 CNV insertion 17803354
esv1926132 CNV deletion 18987734
esv2147573 CNV deletion 18987734
esv25007 CNV gain 19812545
esv2506669 CNV insertion 19546169
esv2667237 CNV deletion 23128226
esv275517 CNV gain+loss 21479260
esv3447417 CNV duplication 20981092
esv3572511 CNV loss 25503493
esv3616235 CNV loss 21293372
esv3616237 CNV loss 21293372
esv3616238 CNV loss 21293372
esv3616240 CNV loss 21293372
nsv1019796 CNV gain 25217958
nsv1022434 CNV gain 25217958
nsv1027845 CNV gain 25217958
nsv1077515 CNV duplication 25765185
nsv1119167 CNV deletion 24896259
nsv1137609 CNV deletion 24896259
nsv397981 CNV deletion 16902084
nsv516033 CNV loss 19592680
nsv519941 CNV loss 19592680
nsv521721 CNV loss 19592680
nsv522127 CNV loss 19592680
nsv831232 CNV loss 17160897
nsv831233 CNV gain 17160897

Variation tolerance for XKR6 Gene

Residual Variation Intolerance Score: 8.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XKR6 Gene

Human Gene Mutation Database (HGMD)
XKR6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XKR6
Leiden Open Variation Database (LOVD)
XKR6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XKR6 Gene

Disorders for XKR6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for XKR6 Gene - From: GCD

Disorder Aliases PubMed IDs
keratolytic winter erythema
  • kwe
- elite association - COSMIC cancer census association via MalaCards
Search XKR6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for XKR6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with XKR6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for XKR6 Gene

Publications for XKR6 Gene

  1. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf ML … Rioux JD (Genes and immunity 2011) 3 40
  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. (PMID: 20160193) Weissglas-Volkov D … Pajukanta P (Circulation. Cardiovascular genetics 2010) 3 40
  3. Common variants at 30 loci contribute to polygenic dyslipidemia. (PMID: 19060906) Kathiresan S … Cupples LA (Nature genetics 2009) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. XKR6 rs7014968 SNP Increases Serum Total Cholesterol Levels and the Risk of Coronary Heart Disease and Ischemic Stroke. (PMID: 32024373) Li KG … Cao XL (Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2020) 3

Products for XKR6 Gene

Sources for XKR6 Gene