Human Gene XG (uc011mhg.2)
  Description: Homo sapiens Xg blood group (XG), transcript variant 1, mRNA.
RefSeq Summary (NM_175569): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:2,670,093-2,734,541 Size: 64,449 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chrX:2,670,316-2,732,421 Size: 62,106 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:2,670,093-2,734,541)mRNA (may differ from genome)Protein (180 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkHGNC
LynxMalacardsMGIneXtProtOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: XG_HUMAN
DESCRIPTION: RecName: Full=Glycoprotein Xg; AltName: Full=Protein PBDX; Flags: Precursor;
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
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.
PTM: O-glycosylated (Probable).
POLYMORPHISM: XG is responsible for the Xg blood group system.
MISCELLANEOUS: The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
SIMILARITY: Belongs to the CD99 family.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=xg";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: XG
Diseases sorted by gene-association score: kallmann syndrome (2), red color blindness (2), red-green color blindness (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.77 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 99.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.30223-0.365 Picture PostScript Text
3' UTR -560.882120-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022078 - CD99L2

Pfam Domains:
PF12301 - CD99 antigen like protein 2

ModBase Predicted Comparative 3D Structure on P55808
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK304164 - Homo sapiens cDNA FLJ56768 complete cds, highly similar to Glycoprotein Xg precursor.
AF380356 - Homo sapiens PBDX mRNA, complete cds.
AF534880 - Homo sapiens PBDX mRNA, complete cds.
BC100764 - Homo sapiens Xg blood group, mRNA (cDNA clone IMAGE:40000157), complete cds.
BC100765 - Homo sapiens Xg blood group, mRNA (cDNA clone MGC:118759 IMAGE:40000158), complete cds.
BC100766 - Homo sapiens Xg blood group, mRNA (cDNA clone MGC:118760 IMAGE:40000159), complete cds.
BC100767 - Homo sapiens Xg blood group, mRNA (cDNA clone MGC:118761 IMAGE:40000160), complete cds.
JD206113 - Sequence 187137 from Patent EP1572962.
KJ892388 - Synthetic construct Homo sapiens clone ccsbBroadEn_01782 XG gene, encodes complete protein.
KJ897744 - Synthetic construct Homo sapiens clone ccsbBroadEn_07138 XG gene, encodes complete protein.
Z48517 - H.sapiens XG mRNA (clone RACE3).
Z48519 - H.sapiens XG gene (clone RACE5).
Z48518 - H.sapiens XG mRNA (clone RACE4).
JD262296 - Sequence 243320 from Patent EP1572962.
JD379443 - Sequence 360467 from Patent EP1572962.
JD482286 - Sequence 463310 from Patent EP1572962.
JD345916 - Sequence 326940 from Patent EP1572962.
JD146022 - Sequence 127046 from Patent EP1572962.
JD167382 - Sequence 148406 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E9PCH1, NM_175569, NP_780778, P55808, PBDX, Q496N8, Q496N9, Q496P0, Q71BZ5, XG_HUMAN
UCSC ID: uc011mhg.2
RefSeq Accession: NM_175569
Protein: P55808 (aka XG_HUMAN)
CCDS: CCDS14120.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_175569.2
exon count: 10CDS single in 3' UTR: no RNA size: 2899
ORF size: 543CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1280.00frame shift in genome: no % Coverage: 99.55
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.