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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

XG Gene

protein-coding GIFtS: 47
GCID: GC0XP002663

Xg blood group

(Previous name: Xg blood group (pseudoautosomal boundary-divided on the...)
(Previous symbol: PBDX)

Explore 13 diseases affiliated with
XG via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Xg Blood Group¹ ²
PBDX¹ ² ³
Xg Blood Group (Pseudoautosomal Boundary-Divided On The X Chromosome)¹ ²
Glycoprotein Xg²
XG Glycoprotein²
Protein PBDX³

External Ids:	HGNC: 12806¹	Entrez Gene: 7499²	Ensembl: ENSG00000124343⁷	OMIM: 300879⁵	UniProtKB: P55808³

Export aliases for XG gene to outside databases

Previous GC identifers: GC0XU990234 GC0XM001839 GC0XP002200 GC0XP002265

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XG:

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167197.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the XG gene promoter:
NF-1/L NF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: XG promoter sequence

Search SABiosciences Chromatin IP Primers for XG

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XG

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

Entrez Gene cytogenetic band: Xp22.33 Ensembl cytogenetic band: Xp22.33 HGNC cytogenetic band: Xp22.32

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

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP002663: view genomic region (about GC identifiers)

Start:	2,670,091 bp from pter	End:	2,734,541 bp from pter
Size:	64,451 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XG_HUMAN, P55808 (See protein sequence)

Recommended Name: Glycoprotein Xg precursor

Size: 180 amino acids; 19723 Da

Subcellular location: Cell membrane; Single-pass type I membrane protein

Miscellaneous: The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y

chromosomes

Secondary accessions: E9PCH1 Q496N8 Q496N9 Q496P0 Q71BZ5

Alternative splicing: 3 isoforms: P55808-1 P55808-2 P55808-3 (No experimental confirmation available. Ref.5 (AAI00766) sequence is in conflict in position: 131:L->P)

Explore the universe of human proteins at neXtProt for XG: NX_P55808

Post-translational modifications:

O-glycosylated (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P55808

XG Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001135391.1 NP_001135392.1 NP_780778.1

ENSEMBL proteins:

ENSP00000370566 ENSP00000411004 ENSP00000430005 ENSP00000398503

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	Uscn Proteins for XG

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IDA	7533029

XG for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

XG for domains About GeneDecksing

1 InterPro domain/family:

IPR022078 CD99L2

Graphical View of Domain Structure for InterPro Entry P55808

ProtoNet protein and cluster: P55808

UniProtKB/Swiss-Prot: XG_HUMAN, P55808

Similarity: Belongs to the CD99 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

XG for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for XG

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

XG for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for XG
Search CenterWatch for drugs/clinical trials and news about XG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for XG gene (3 alternative transcripts):

NM_001141919.1 NM_001141920.1 NM_175569.2

Unigene Cluster for XG:

Xg blood group

Hs.179675 [show with all ESTs]

Unigene Representative Sequence: NM_001141919

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000381174 ENST00000419513(uc010ndb.2) ENST00000509484 ENST00000503018

ENST00000519244 ENST00000426774(uc004cqp.3 uc011mhg.2)

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Additional cDNA sequence:

AF380356.1 AF534880.1 AK304164.1 BC100764.2 BC100765.2 BC100766.2 BC100767.1 NR_003254.1

Z48517.1 Z48518.1 Z48519.1

14 DOTS entries:

DT.97835036 DT.121282475 DT.431733 DT.121282484 DT.300477 DT.95133671 DT.121282487 DT.100643907

DT.121282478 DT.40258841 DT.120652297 DT.308496 DT.91918877 DT.97782142

24/40 AceView cDNA sequences (see all 40):

CD172101 CA390062 BX098030 BF515810 BX379565 AA336889 NM_175569 AI168338

AF380356 Z48518 T96594 BU626184 BF718591 AW369156 AW449679 AI183456

BX403244 BM723344 BX107166 BQ014345 H63758 BF507402 AA708174 BE693663

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

XG expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCTTAATTA

About this image
See XG Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XG

SOURCE GeneReport for Unigene cluster: Hs.179675

UniProtKB/Swiss-Prot: XG_HUMAN, P55808

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

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for XG gene from 1/3 species (see all 3) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	XG⁶	Uncharacterized protein	38(a)	1 ↔ 1	1(132633051-132655159)

Species with no ortholog for XG

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for XG gene

XG for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for XG
PGOHUM00000233746

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: XG_HUMAN, P55808

Polymorphism: XG is responsible for the Xg blood group system

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs311165^1,2	C,F,A,H,	--	2699555(+)	`CATATA/CTCCAC`	3	--	int¹		6		NA WA CSA	10
rs186009975^1,2		--	2699559(+)	`TCTCCA/GCATAG`	3	--	int¹		0	--	--	--	--
rs6655038^1,2	C,	--	2699625(+)	`tttccA/Gggcct`	3	--	int¹		0	--	--	--	--
rs28579419^1,2	C,	--	2699645(+)	`AACAGG/TTTGCA`	3	--	int¹		0	--	--	--	--
rs60075487^1,2	C,	--	2699676(+)	`CCCCAA/GTTCAT`	3	--	int¹		4		WA CSA	7
rs148034730^1,2		--	2699683(+)	`TCATCA/GGTGTT`	3	--	int¹		0	--	--	--	--
rs190819059^1,2		--	2699739(+)	`CAGAAC/GGTTTG`	3	--	int¹		0	--	--	--	--
rs199504133^1,2		--	2699898(+)	`AAACC-/TTTTTT`	3	--	int¹		0	--	--	--	--
rs3214987^1,2		--	2699899(-)	`AAAAA-/AGGTTT`	3	--	int¹ trp³		0	--	--	--	--
rs60233760^1,2	C	--	2699899(+)	`TTTTT-/TAAGTT`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for XG (2670091 - 2734541 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for XG
8 CNVs: 3260 34412 8293 4142 8291 52978 8292 23329
Locus Specific Mutation Databases (LSDB): XG
Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

XG for disorders           About GeneDecksing

OMIM gene information: 300879    OMIM disorders: --

13 diseases for XG:    About MalaCards

x-linked ichthyosis glucosephosphate dehydrogenase deficiency chondrodysplasia punctata color blindness

ocular albinism anosmia chondrodysplasia ichthyosis

kallmann syndrome hypogonadotropism albinism hypogonadism

blindness

4 diseases from the University of Copenhagen DISEASES database for XG:

Color blindness X-linked ichthyosis Ocular albinism Glucosephosphate dehydrogenase deficiency

Genatlas disease: XG

Xg blood group

Export disorders for XG 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)
About This Section

PubMed articles for XG gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with XG)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. (PubMed id 8054981)^{1, 2, 3} Ellis N.A.... Weller P. (1994)
A study of the coregulation and tissue specificity of XG and MIC2 gene expression in eukaryotic cells. (PubMed id 10688843)^{1, 2} Fouchet C....Lopez C. (2000)
PBDX is the XG blood group gene. (PubMed id 7533029)^{1, 2} Ellis N.A....Banting G. (1994)
Quantitative analysis of XG blood group and CD99 antigens on human red cells. (PubMed id 10941840)^{1, 9} Fouchet C....Lopez C. (2000)
[Xg gene frequencies in Tunisia] (PubMed id 18789743)¹ Gandouz R....Skouri H. (2008)
The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
The human Y chromosome homologue of XG: transcription of a naturally truncated gene. (PubMed id 7633446)¹ Weller P.A....Ellis N.A. (1995)
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. (PubMed id 3007328)¹ Ballabio A....Andria G. (1986)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 7499	HGNC: 12806	AceView: XG	Ensembl:ENSG00000124343	euGenes: HUgn7499
ECgene: XG	H-InvDB: XG

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for XG	Pharmacogenomics, SNPs, Pathways
dbRBC/BGMUT	http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=xg

Intellectual Property for XG gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for XG gene:
Search GeneIP for patents involving XG

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XG
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XG
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XG
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XG

	GenScript Custom Purified and Recombinant Proteins Services for XG		GenScript cDNA clones with any tag delivered in your preferred vector for XG
	GenScript Custom Assay Services for XG		GenScript Custom Superior Antibodies Services for XG
	GenScript Custom overexpressing Cell Line Services for XG		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XG

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes XG gene at Home site.

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XG Gene

Xg blood group

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