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WBSCR17 Gene

protein-coding   GIFtS: 50

GC07P070235
Williams-Beuren syndrome chromosome region 17
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp434I2216 2
DKFZp761D2324 2
EC 2.4.1.41 3
GALNT16 2
GALNT20 2
GALNTL3 1, 2, 3
Descriptions
GalNAc-T-like protein 3 3
Polypeptide GalNAc transferase-like protein 3 3
Protein-UDP acetylgalactosaminyltransferase-like protein 3 3
UDP-GalNAc:polypeptide
N-acetylgalactosaminyltransferase-like 3 2
UDP-GalNAc:polypeptide
N-acetylgalactosaminyltransferase-like protein 3 3
UDP-N-acetyl-alpha-D-galactosamine:polypeptide
N-acetylgalactosaminyltransferase 16 2
Williams-Beuren syndrome chromosomal region 17 protein 3
Williams-Beuren syndrome chromosome region 17 2
polypeptide N-acetylgalactosaminyltransferase WBSCR17 2
pp-GaNTase-like protein 3 3
pp-GalNAc-transferase 20 2
External Ids
HGNC: 163471
Entrez Gene: 644092
UniProtKB: Q6IS243
Ensembl: ENSG000001852747
Search outside databases for aliases for WBSCR17 gene

Previous GC identifers: GC07P069526 GC07P069238 GC07P069996 GC07P070009 GC07P070042

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for WBSCR17:
This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the
mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder
caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq]

UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
Function: May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer
of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor
(By similarity)

Gene Wiki entry for WBSCR17

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the WBSCR17 gene  

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.22   HGNC cytogenetic band: 7q11.23

WBSCR17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P070235:     (about GC identifiers)

Start:
70,235,725 bp from pter
End:
70,816,519 bp from pter
Size:
580,795 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 69,931,747-70,512,468     
RefSeq DNA sequence:
NC_000007.12  NT_007758.11  NT_079593.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24 (See protein sequence)
Recommended Name: Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3  
Size: 598 amino acids; 67751 Da
Cofactor: Manganese (By similarity)
Cofactor: Calcium (By similarity)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By
similarity)
Secondary accessions: Q8NFV9 Q9NTA8

REFSEQ proteins: NP_071924.1  

ENSEMBL proteins: 
ENSP00000329654 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (WBSCR17)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000139 Golgi membrane IEA--
GO:0005794 Golgi apparatus IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
About this table

Antibodies for WBSCR17: 
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Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for WBSCR17
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for WBSCR17

Assays for WBSCR17: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR000772 Ricin_B_lectin
 IPR001173 Glyco_trans_2


   GeneDecks  WBSCR17 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q6IS24

ProtoNet protein and cluster: Q6IS24

2 Blocks protein families:
IPB000772 Ricin B lectin domain
IPB001173 Glycosyl transferase


UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
Domain: There are two conserved domains in the glycosyltransferase region: the N-terminal domain
(domain A, also called GT1 motif), which is probably involved in manganese coordination and
substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is
probably involved in catalytic reaction and UDP-Gal binding (By similarity)
Domain: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide
specificity (By similarity)
Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
Similarity: Contains 1 ricin B-type lectin domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (WBSCR17)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (WBSCR17)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022479

              Applied Biosystems Silencer® siRNAs for WBSCR17

              Sigma-Aldrich siRNA and siRNA Panels for WBSCR17  
                     Sigma-Aldrich shRNA for WBSCR17  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for WBSCR17
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022479
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_022479
                                 untagged cDNA clone in CMV expression vector: NM_022479 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_022479

UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
Function: May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer
of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor
(By similarity)
Catalytic activity: UDP-N-acetyl-D-galactosamine + polypeptide = UDP +
N-acetyl-D-galactosaminyl-polypeptide
Enzyme Number (IUBMB): EC 2.4.1.41 

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity IEA--
GO:0005509 calcium ion binding IEA--
GO:0005529 sugar binding IEA--
GO:0016757 transferase activity, transferring glycosyl groups IEA--
GO:0030145 manganese ion binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  WBSCR17  (Your Favorite Gene powered by Ingenuity) 
 O-Glycan Biosynthesis

   GeneDecks  WBSCR17 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for WBSCR17):
 hsa00512 O-Glycan biosynthesis

   GeneDecks  WBSCR17 for the pathways selected above  
About GeneDecksing
UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
Pathway: Protein modification; protein glycosylation


5/26 Interacting proteins for WBSCR17 (ENSP000003296543) via UniProtKB, MINT, and/or STRING (see all 26 )

InteractantInteraction Details
GeneCardExternal ID(s)
ST6GALNAC1ENSP000001566263STRING (score=.901)
B3GNT6ENSP000003462563STRING (score=.899)
C1GALT1ENSP000002231223STRING (score=.899)
C1GALT1C1ENSP000003603633STRING (score=.899)
GCNT1ENSP000003659203STRING (score=.899)
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for WBSCR17

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (WBSCR17)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (WBSCR17)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022479

              Sigma-Aldrich siRNA and siRNA Panels for WBSCR17  
                     Sigma-Aldrich shRNA for WBSCR17  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_022479  

REFSEQ mRNAs for WBSCR17 gene: 

NM_022479.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_022479  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022479
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_022479
                                 untagged cDNA clone in CMV expression vector: NM_022479 

Additional cDNA sequence: 

AB078148.1 AF410457.1 AJ626726.1 AK022143.1 AK091379.1 AK094958.1 AK096991.1 AK126044.1 
AK290036.1 AL137431.1 BC067524.1 BC067525.1 BC069624.1 BC069628.1 BC069636.1 BC069645.1 
BC069997.1 CR749675.1 

8 DOTS entries:

DT.95106831  DT.75101185  DT.101984604  DT.121104424  DT.309955  DT.95089775  DT.121104440  DT.95366035 

24/76 AceView cDNA sequences (see all 76 ):

AK094958 BC067524 AI630990 AK022143 CB152061 BF724687 AI420776 CF271940 
AI634540 CD172312 AI692373 AF410457 AK091379 AA349934 AU121279 CD105620 
AI151048 AA331184 AX746946 BC069624 BF002954 BM717526 BG818140 AI459324 

highest scoring ESTs for WBSCR17:

AI972623 AA331184 AA678923 AA984530 AF410457 AI151048 AI307264 AI420776 AI458748 AI459324 

Unigene Cluster for WBSCR17:

Williams-Beuren syndrome chromosome region 17
Hs.488591  [show with all ESTs]
Unigene Representative Sequence: AK126044


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000333538  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

WBSCR17 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for WBSCR17

1 / 2 / 3

3 probe-sets matching WBSCR17 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

47073_at2, 3 U95-B 2 1.00 0.97 1.00 1.00 AI972623 1.00 1.00 1.00 1

227434_at2, 3 U133-B 1 1.00 1.00 -- -- AI972623 1.00 1.00 1.00 1

227434_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTAGCACTTC

SOURCE GeneReport for Unigene cluster: Hs.488591

UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
Tissue specificity: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung
and spleen

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for WBSCR17 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
LOC4897901   -- similar to UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like more 91.64(n)
97.16(a)
489790  XM_851317.1  XP_856410.1 
chimpanzee
(Pan troglodytes)
WBSCR171   -- Williams-Beuren syndrome chromosome region 17 99.33(n)
99.83(a)
463458  XM_001142210.1  XP_001142210.1 
cow
(Bos taurus)
LOC5056221   -- similar to UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like more 92.2(n)
98.16(a)
505622  XM_581937.3  XP_581937.3 
rat
(Rattus norvegicus)
Wbscr171   -- Williams-Beuren syndrome chromosome region 17 homolog more 89.52(n)
98.83(a)
288611  NM_001025112.1  NP_001020283.1 
mouse
(Mus musculus)
Wbscr171, 5 55
Williams-Beuren syndrome chromosome region 17 homolog more1, 5 89.52(n)1
98.49(a)1
2129961  NM_145218.31  NP_660253.21 
 AA3883215  AB1756845  (see all 16)
About this table        Species with no ortholog for WBSCR17

ENSEMBL Gene Tree for WBSCR17
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for WBSCR17 gene
GALNT92  GALNT82  GALNTL42  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/4042 NCBI SNPs in WBSCR17 are shown (see all 4042 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 870)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs102263211,2
A,C,F,H70815113(+) TGGCTG/CCTCCC 1 -- ut314Minor allele frequency- C:0.10EU EA WA 418
rs69574461,2
A,C,F,H70235611(+) GGGGCT/CTGGAT 1 -- ng511Minor allele frequency- C:0.19WA 120
rs132264101,2
C,F,H70815733(+) TATCAG/ATGTGC 1 -- ut314Minor allele frequency- A:0.06EU EA WA 388
--
rs10439871,2
C,F70816102(+) CACAAG/TTGTGT 1 -- ut312Minor allele frequency- T:0.27EA MN 1686
--
rs21097301,2
C,F70816946(-) TCTACA/CATTTT 1 -- ng314Minor allele frequency- N:0.01EA NA 202
--
rs102349691,2
C70235301(+) CTGAGC/TCCGGC 1 -- ng510--------
--
rs102451741,2
A70235204(+) AGCGCC/GGGTGG 1 -- ng510--------
--
rs5469731,2
F70815181(-) GGGGGC/GCCATC 1 -- ut311Minor allele frequency- G:0.02MN 184
--
rs69518471,2
C70234757(+) TCGGCA/GCGCGT 1 -- ng510--------
--
rs102757991,2
C70235458(+) CTGGAA/CGGGGC 1 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for WBSCR17 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

Human Genome Epidemiology Navigator: WBSCR17 (1 document)

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10 PubMed articles for WBSCR17 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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, and/or H-InvDB)
About This Section

Entrez Gene: 64409 HGNC: 16347 AceView: WBSCR17 Ensembl:ENSG00000185274 euGenes: HUgn64409
ECgene: WBSCR17 H-InvDB: WBSCR17
(According to HUGE)
About This Section

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

NameDescription
GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_500
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for WBSCR17:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 "Your Favorite Gene" Pathwaysfeedback


  
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