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Aliases for XG Gene

Aliases for XG Gene

  • Xg Blood Group 2 3 5
  • Xg Blood Group (Pseudoautosomal Boundary-Divided On The X Chromosome) 2 3
  • PBDX 3 4
  • XG Glycoprotein 3
  • Glycoprotein Xg 3
  • Protein PBDX 4

External Ids for XG Gene

Previous HGNC Symbols for XG Gene

  • PBDX

Previous GeneCards Identifiers for XG Gene

  • GC0XU990234
  • GC0XM001839
  • GC0XP002200
  • GC0XP002265
  • GC0XP002663

Summaries for XG Gene

Entrez Gene Summary for XG Gene

  • This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

GeneCards Summary for XG Gene

XG (Xg Blood Group) is a Protein Coding gene. Diseases associated with XG include Colorblindness, Partial, Protan Series and Kallmann Syndrome.

Additional gene information for XG Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XG Gene

Genomics for XG Gene

GeneHancer (GH) Regulatory Elements for XG Gene

Promoters and enhancers for XG Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI002751 Promoter/Enhancer 0.8 EPDnew Ensembl 550.8 +0.5 495 2.1 RFX5 XG GYG2
GH0XI002703 Enhancer 1.4 FANTOM5 Ensembl dbSUPER 0.3 -44.6 -44619 8 PKNOX1 CLOCK FOXA2 ARID4B SIN3A ZNF143 ATF7 FOS RUNX3 RXRA ZBED1 CD99 DHRSX ARSD XG
GH0XI002767 Enhancer 0.9 FANTOM5 Ensembl 0.4 +15.8 15787 1.2 HDAC1 ZNF687 KLF1 RFX1 HLF MAX RFX5 NFIL3 SP1 CTBP1 CD99 ZBED1 DHRSX XG GYG2
GH0XI002779 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.3 +29.4 29374 2.8 DRAP1 ELF3 SOX13 TFAP4 FOXA2 SAP130 ARID4B KMT2B ZSCAN9 TEAD3 XG GYG2
GH0XI002690 Promoter/Enhancer 1.4 Ensembl dbSUPER 0.2 -60.1 -60119 2.2 SIN3A DMAP1 ETS1 ZNF121 ZNF143 RUNX3 ZNF263 SP3 SP5 ATF4 CD99 XG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around XG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the XG gene promoter:

Genomic Locations for XG Gene

Genomic Locations for XG Gene
64,681 bases
Plus strand

Genomic View for XG Gene

Genes around XG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for XG Gene

Proteins for XG Gene

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

    Protein Symbol:
    Recommended name:
    Glycoprotein Xg
    Protein Accession:
    Secondary Accessions:
    • E9PCH1
    • Q496N8
    • Q496N9
    • Q496P0
    • Q71BZ5

    Protein attributes for XG Gene

    180 amino acids
    Molecular mass:
    19723 Da
    Quaternary structure:
    No Data Available
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

    Alternative splice isoforms for XG Gene


neXtProt entry for XG Gene

Post-translational modifications for XG Gene

No data available for DME Specific Peptides for XG Gene

Domains & Families for XG Gene

Gene Families for XG Gene

Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • Predicted membrane proteins

Protein Domains for XG Gene


Suggested Antigen Peptide Sequences for XG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CD99 family.
  • Belongs to the CD99 family.
genes like me logo Genes that share domains with XG: view

Function for XG Gene

Gene Ontology (GO) - Molecular Function for XG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with XG: view

Phenotypes for XG Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for XG Gene

Localization for XG Gene

Subcellular locations from UniProtKB/Swiss-Prot for XG Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

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 XG gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for XG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IDA 7533029
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with XG: view

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

Pathways & Interactions for XG Gene

No Data Available

Interacting Proteins for XG Gene

Gene Ontology (GO) - Biological Process for XG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with XG: view

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

Drugs & Compounds for XG Gene

No Compound Related Data Available

Transcripts for XG Gene

Unigene Clusters for XG Gene

Xg blood group:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for XG Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XG Gene

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

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.1), Skin - Not Sun Exposed (Suprapubic) (x7.7), and Adipose - Subcutaneous (x4.3).

Protein differential expression in normal tissues from HIPED for XG Gene

This gene is overexpressed in Heart (68.9).

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

Protein tissue co-expression partners for XG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of XG Gene:


SOURCE GeneReport for Unigene cluster for XG Gene:


mRNA Expression by UniProt/SwissProt for XG Gene:

Tissue specificity: Expressed in erythroid tissues, including thymus, bone marrow and fetal liver, and in several nonerythroid tissues, such as heart, placenta, skeletal muscle, thyroid and trachea, as well as in skin fibroblasts. Expression is low or undetectable in other tissues.

Evidence on tissue expression from TISSUES for XG Gene

  • Bone marrow(4)
  • Skin(2)
genes like me logo Genes that share expression patterns with XG: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for XG Gene

Orthologs for XG Gene

This gene was present in the common ancestor of mammals.

Orthologs for XG Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia XG 33 34
  • 98.8 (n)
(Bos Taurus)
Mammalia XG 33 34
  • 67.71 (n)
(Canis familiaris)
Mammalia XG 34
  • 67 (a)
(Monodelphis domestica)
Mammalia XG 34
  • 53 (a)
Species where no ortholog for XG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for XG Gene

Gene Tree for XG (if available)
Gene Tree for XG (if available)

Paralogs for XG Gene Pseudogenes for XG Gene

genes like me logo Genes that share paralogs with XG: view

No data available for Paralogs for XG Gene

Variants for XG Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for XG Gene

XG is responsible for the Xg blood group system.

Sequence variations from dbSNP and Humsavar for XG Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000046962 -- 2,779,376(+) A/G intron_variant
rs1000304912 -- 2,800,326(+) C/G intron_variant
rs1000323278 -- 2,789,289(+) A/T intron_variant
rs1000376513 -- 2,801,131(+) A/G intron_variant
rs1000409160 -- 2,800,644(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1392e199 CNV deletion 23128226
dgv264e55 CNV gain 17911159
esv2739881 CNV deletion 23290073
esv2739882 CNV deletion 23290073
esv2739883 CNV deletion 23290073
esv2752318 CNV gain 17911159
esv2758855 CNV gain 17122850
esv2980457 CNV duplication 24192839
esv29994 CNV gain 17803354
esv29996 CNV loss 17803354
esv3431582 CNV insertion 20981092
esv34985 CNV gain 17911159
esv3576721 CNV gain 25503493
nsv1078104 CNV duplication 25765185
nsv1125076 CNV duplication 24896259
nsv1150439 CNV duplication 26484159
nsv510521 OTHER sequence alteration 20534489
nsv516388 CNV gain 19592680
nsv526612 CNV loss 19592680

Variation tolerance for XG Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XG Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for XG Gene

MalaCards: The human disease database

(3) MalaCards diseases for XG Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
colorblindness, partial, protan series
  • cbp
kallmann syndrome
  • familial hypogonadism with anosmia
red-green color blindness
  • colorblindness, partial, deutan series
- elite association - COSMIC cancer census association via MalaCards
Search XG in MalaCards View complete list of genes associated with diseases

Genatlas disease for XG Gene

Xg blood group
genes like me logo Genes that share disorders with XG: view

No data available for UniProtKB/Swiss-Prot for XG Gene

Publications for XG Gene

  1. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. (PMID: 8054981) Ellis NA … Weller P (Nature genetics 1994) 2 3 4 58
  2. A study of the coregulation and tissue specificity of XG and MIC2 gene expression in eukaryotic cells. (PMID: 10688843) Fouchet C … Lopez C (Blood 2000) 3 4 58
  3. Quantitative analysis of XG blood group and CD99 antigens on human red cells. (PMID: 10941840) Fouchet C … Lopez C (Immunogenetics 2000) 3 22 58
  4. PBDX is the XG blood group gene. (PMID: 7533029) Ellis NA … Banting G (Nature genetics 1994) 3 4 58
  5. Sex-specific association of a common variant of the XG gene with autism spectrum disorders. (PMID: 24132906) Chang SC … Santangelo SL (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013) 3 58

Products for XG Gene

Sources for XG Gene

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