Aliases for XKR7 Gene

Aliases for XKR7 Gene

  • XK Related 7 2 3 5
  • XK, Kell Blood Group Complex Subunit-Related Family, Member 7 2 3
  • X Kell Blood Group Precursor-Related Family, Member 7 2 3
  • XK-Related Protein 7 3 4
  • DJ310O13.4 2 3
  • C20orf159 3 4
  • Chromosome 20 Open Reading Frame 159 2
  • X-Linked Kx Blood Group Related 7 3
  • XKR7 5
  • XRG7 4

External Ids for XKR7 Gene

Previous HGNC Symbols for XKR7 Gene

  • C20orf159

Previous GeneCards Identifiers for XKR7 Gene

  • GC20P030020
  • GC20P030555
  • GC20P027344

Summaries for XKR7 Gene

GeneCards Summary for XKR7 Gene

XKR7 (XK Related 7) is a Protein Coding gene. Diseases associated with XKR7 include Von Willebrand Disease, Type 2. An important paralog of this gene is XKR4.

Additional gene information for XKR7 Gene

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 XKR7 Gene

Genomics for XKR7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for XKR7 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
GH20J031967 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.2 249 2.4 HNRNPL GATAD2A TEAD4 ZNF629 REST TFE3 NFKBIZ RFX5 KDM1A ZNF692 ENSG00000278012 XKR7 PDRG1 TTLL9 RSL24D1P6 DUSP15 RNA5SP481 CCM2L FOXS1 MYLK2
GH20J031950 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 35.5 -16.6 -16646 2.4 BRCA1 ARHGAP35 SP1 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 REST PDRG1 lnc-DUSP15-2 XKR7 DUSP15 TTLL9 RF00017-3547
GH20J032017 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +50.6 50637 2 HNRNPL PRDM10 ZNF692 RBFOX2 POLR2A PATZ1 CTCF SP1 ZNF600 KLF9 XKR7 MYLK2 CCM2L ENSG00000226239 HCK
GH20J031840 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -124.6 -124629 5.5 ARHGAP35 HNRNPL ATF7 NFRKB JUND PRDM1 PHB2 ZIC2 ZSCAN4 MTA1 lnc-DUSP15-1 ASXL1 MYLK2 TM9SF4 BAK1P1 TSPY26P TTLL9 PLAGL2 POFUT1 PDRG1
GH20J031972 Enhancer 0.7 Ensembl ENCODE dbSUPER 22.3 +4.6 4640 1.3 EZH2 GATA3 ZKSCAN8 XKR7 CCM2L PDRG1 RNA5SP481 RNU1-94P MYLK2 RNA5SP482 HCK TM9SF4 TTLL9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XKR7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XKR7

Top Transcription factor binding sites by QIAGEN in the XKR7 gene promoter:
  • CUTL1
  • Evi-1
  • FOXC1
  • FOXO1
  • FOXO1a
  • GATA-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for XKR7 Gene

Genomic Locations for XKR7 Gene
chr20:31,968,151-32,003,387
(GRCh38/hg38)
Size:
35,237 bases
Orientation:
Plus strand
chr20:30,555,805-30,591,190
(GRCh37/hg19)
Size:
35,386 bases
Orientation:
Plus strand

Genomic View for XKR7 Gene

Genes around XKR7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XKR7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XKR7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XKR7 Gene

Proteins for XKR7 Gene

  • Protein details for XKR7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5GH72-XKR7_HUMAN
    Recommended name:
    XK-related protein 7
    Protein Accession:
    Q5GH72
    Secondary Accessions:
    • Q9NUG5

    Protein attributes for XKR7 Gene

    Size:
    579 amino acids
    Molecular mass:
    63826 Da
    Quaternary structure:
    No Data Available

neXtProt entry for XKR7 Gene

Post-translational modifications for XKR7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XKR7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XKR7 Gene

Domains & Families for XKR7 Gene

Gene Families for XKR7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for XKR7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XKR7 Gene

GenScript: Design optimal peptide antigens:
  • XK-related protein 7 (XKR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5GH72

UniProtKB/Swiss-Prot:

XKR7_HUMAN :
  • Belongs to the XK family.
Family:
  • Belongs to the XK family.
genes like me logo Genes that share domains with XKR7: view

Function for XKR7 Gene

Phenotypes From GWAS Catalog for XKR7 Gene

Phenotypes for XKR7 Gene

genes like me logo Genes that share phenotypes with XKR7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XKR7

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 XKR7 Gene

Localization for XKR7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XKR7 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 XKR7 gene
Compartment Confidence
plasma membrane 4
nucleus 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for XKR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with XKR7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for XKR7 Gene

Pathways & Interactions for XKR7 Gene

PathCards logo

SuperPathways for XKR7 Gene

No Data Available

Interacting Proteins for XKR7 Gene

Gene Ontology (GO) - Biological Process for XKR7 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 XKR7: view

No data available for Pathways by source and SIGNOR curated interactions for XKR7 Gene

Drugs & Compounds for XKR7 Gene

No Compound Related Data Available

Transcripts for XKR7 Gene

mRNA/cDNA for XKR7 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XKR7

Alternative Splicing Database (ASD) splice patterns (SP) for XKR7 Gene

No ASD Table

Relevant External Links for XKR7 Gene

GeneLoc Exon Structure for
XKR7

Expression for XKR7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XKR7 Gene

mRNA differential expression in normal tissues according to GTEx for XKR7 Gene

This gene is overexpressed in Brain - Cerebellum (x17.4), Brain - Cerebellar Hemisphere (x15.2), and Pituitary (x6.8).

Protein differential expression in normal tissues from HIPED for XKR7 Gene

This gene is overexpressed in Cerebrospinal fluid (51.4) and Fetal Brain (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for XKR7 Gene



Protein tissue co-expression partners for XKR7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XKR7

SOURCE GeneReport for Unigene cluster for XKR7 Gene:

Hs.666444
genes like me logo Genes that share expression patterns with XKR7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for XKR7 Gene

Orthologs for XKR7 Gene

This gene was present in the common ancestor of animals.

Orthologs for XKR7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia XKR7 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia XKR7 30 31
  • 92.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia XKR7 30 31
  • 91.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Xkr7 30
  • 88.31 (n)
Mouse
(Mus musculus)
Mammalia Xkr7 30 17 31
  • 88.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia XKR7 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves XKR7 30 31
  • 78.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia XKR7 31
  • 74 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zgc:198371 30
  • 65.82 (n)
xkr7 31
  • 63 (a)
OneToMany
XKR7 (2 of 2) 31
  • 58 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG32579 31
  • 20 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ced-8 31
  • 22 (a)
OneToMany
Species where no ortholog for XKR7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for XKR7 Gene

ENSEMBL:
Gene Tree for XKR7 (if available)
TreeFam:
Gene Tree for XKR7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XKR7: view image

Paralogs for XKR7 Gene

Paralogs for XKR7 Gene

(3) SIMAP similar genes for XKR7 Gene using alignment to 1 proteins:

  • XKR7_HUMAN
genes like me logo Genes that share paralogs with XKR7: view

Variants for XKR7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XKR7 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
691469 Uncertain Significance: Pyloric stenosis; Esophageal atresia 31,996,742(+) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for XKR7 Gene

Structural Variations from Database of Genomic Variants (DGV) for XKR7 Gene

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv2637856 CNV loss 19546169
esv29218 CNV loss 19812545
esv3362843 CNV duplication 20981092
esv3445872 CNV duplication 20981092
nsv1110371 CNV duplication 24896259
nsv1153277 CNV duplication 26484159
nsv3348 CNV deletion 18451855
nsv833952 CNV gain 17160897

Variation tolerance for XKR7 Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.10; 69.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XKR7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
XKR7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XKR7 Gene

Disorders for XKR7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for XKR7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
von willebrand disease, type 2
  • vwd2
- elite association - COSMIC cancer census association via MalaCards
Search XKR7 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with XKR7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for XKR7 Gene

Publications for XKR7 Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for XKR7 Gene

Sources for XKR7 Gene