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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM20B Gene

protein-coding   GIFtS: 48
GCID: GC01P178995

family with sequence similarity 20, member B

 Explore 4 diseases affiliated with
FAM20B via our new
 Human Malady Compendium 
Biological research products
for FAM20B
    

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

Aliases
Family With Sequence Similarity 20, Member B1 2     Gxk11
KIAA04751 3     EC 2.7.1.-3
Xylose Kinase2 3     Protein FAM20B3
Glycosaminoglycan Xylosylkinase2     

External Ids:    HGNC: 230171   Entrez Gene: 99172   Ensembl: ENSG000001161997   OMIM: 6110635   UniProtKB: O750633   

Export aliases for FAM20B gene to outside databases

Previous GC identifers: GC01P175593 GC01P176234 GC01P175726 GC01P177261 GC01P150222


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

UniProtKB/Swiss-Prot: XYLK_HUMAN, O75063
Function: Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of
proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including
heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region
(GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of
monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-o-phosphorylation may influence the
catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on
which the repeating disaccharide region is synthesized

Gene Wiki entry for FAM20B


(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM20B gene promoter:
         GATA-3   AML1a   GCNF   POU3F2 (N-Oct-5a)   Evi-1   GATA-2   GATA-1   c-Ets-1   GCNF-1   GCNF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM20B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM20B


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

Entrez Gene cytogenetic band: 1q25   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25.2

FAM20B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM20B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P178995:  view genomic region     (about GC identifiers)

Start:
178,994,939 bp from pter      End:
179,045,702 bp from pter
Size:
50,764 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: XYLK_HUMAN, O75063 (See protein sequence)
Recommended Name: Glycosaminoglycan xylosylkinase  
Size: 409 amino acids; 46432 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
Sequence caution: Sequence=BAA32320.2; Type=Erroneous initiation;
Secondary accessions: Q5W0C3 Q5W0C4

Explore the universe of human proteins at neXtProt for FAM20B: NX_O75063

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75063

  • FAM20B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055679.1  
    ENSEMBL proteins: 
     ENSP00000404005   ENSP00000263733  

    Human Recombinant Protein Products: 
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    Uscn Proteins for FAM20B

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005794Golgi apparatus IDA19473117
    GO:0016021integral to membrane IEA--


    FAM20B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FAM20B


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

    FAM20B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009581 DUF1193
     IPR024869 FAM20

    Graphical View of Domain Structure for InterPro Entry O75063

    ProtoNet protein and cluster: O75063

    1 Blocks protein family: IPB009581 Protein of unknown function DUF1193

    UniProtKB/Swiss-Prot: XYLK_HUMAN, O75063
    Similarity: Belongs to the FAM20 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

    Function Summary:

         UniProtKB/Swiss-Prot: XYLK_HUMAN, O75063
    Function: Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of
    proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including
    heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region
    (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of
    monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-o-phosphorylation may influence the
    catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on
    which the repeating disaccharide region is synthesized
    Catalytic activity: ATP + D-xylose = ADP + D-xylose 2-phosphate

    Enzyme Number (IUBMB): EC 2.7.1.-1

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    hsa-miR-579 hsa-miR-2052 hsa-miR-4291 hsa-miR-19b-2* hsa-miR-301a hsa-miR-219-5p hsa-miR-500a hsa-miR-3921
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20B

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity IEA--
    GO:0016773phosphotransferase activity, alcohol group as acceptor IDA19473117


    FAM20B for ontologies           About GeneDecksing


    Animal Models:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fam20b):
     digestive/alimentary  embryogenesis  growth/size  liver/biliary system  mortality/aging 
     respiratory system  skeleton  vision/eye 

    FAM20B for phenotypes           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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM20B

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FAM20B (ENSP000002637334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 FAM20B
    Search CenterWatch for drugs/clinical trials and news about FAM20B / XYLK 

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM20B gene: 
    NM_014864.3  

    Unigene Cluster for FAM20B:

    Family with sequence similarity 20, member B
    Hs.711441  [show with all ESTs]
    Unigene Representative Sequence: AB007944
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440702 ENST00000263733(uc001gmc.3)

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    hsa-miR-579 hsa-miR-2052 hsa-miR-4291 hsa-miR-19b-2* hsa-miR-301a hsa-miR-219-5p hsa-miR-500a hsa-miR-3921
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB007944.1 AB480690.1 AK289989.1 AY044151.1 BC046441.1 BC051794.1 

    6 DOTS entries:

    DT.218333  DT.95118261  DT.121446600  DT.121446482  DT.121446487  DT.121446627 

    24/232 AceView cDNA sequences (see all 232):

    AI160448 AA811322 AA488841 BM725025 BI870023 BE465226 AA737186 F11385 
    BC046441 BM708405 BI754845 AA662169 BM988852 AA769502 BE669640 AA488911 
    BG832389 AA827072 CB127352 R93677 AL713357 BU730730 AI700940 AI668946 

    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

    FAM20B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTAAAAGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FAM20B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM20B

    SOURCE GeneReport for Unigene cluster: Hs.711441

    UniProtKB/Swiss-Prot: XYLK_HUMAN, O75063
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for FAM20B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20B

    (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 animals.

    Orthologs for FAM20B gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam20b1 , 5 family with sequence similarity 20, member B1, 5 90.79(n)1
    97.31(a)1
      1 (67.71 cM)5
    2150151  NM_145413.41  NP_663388.11 
     1566785455 
    chicken
    (Gallus gallus)
    Aves FAM20B1 family with sequence similarity 20, member B 83.78(n)
    95.11(a)
      424427  NM_001031268.1  NP_001026439.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM20B6
    --
    94(a)
    1 ↔ 1
    GL343300.1(773142-788109)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757862 hypothetical protein MGC75786 75.18(n)    BC063339.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam20b1 family with sequence similarity 20, member B (H. sapiens) 70.1(n)
    76.96(a)
      557060  NM_001044818.1  NP_001038283.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36311 CG3631 50.63(n)
    43.71(a)
      41797  NM_169605.2  NP_731951.2 


    ENSEMBL Gene Tree for FAM20B (if available)
    TreeFam Gene Tree for FAM20B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM20B gene
    FAM20A2  FAM20C2  
    2 SIMAP similar genes for FAM20B using alignment to 1 protein entry:     XYLK_HUMAN:
    FAM20C    FAM20A

    FAM20B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FAM20B
    PGOHUM00000238266


    (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

    10/870 NCBI SNPs in FAM20B are shown (see all 870    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406492111,2
    --178993131(+) GGTGCA/TGGTGC 1 -- us2k10--------
    rs756286471,2
    F,--178993171(+) ATGCAA/GCATGG 1 -- us2k11Minor allele frequency- G:0.03EA 120
    rs1504799211,2
    --178993189(+) AAAACC/TGGGGG 1 -- us2k10--------
    rs1384080471,2
    --178993195(+) GGGGGA/GCAGAA 1 -- us2k10--------
    rs1488177851,2
    --178993242(+) CTGAAC/TCCATA 1 -- us2k10--------
    rs1813258401,2
    --178993315(+) TAGATA/GGATGC 1 -- us2k10--------
    rs757132581,2
    C,F,--178993456(+) GAACAG/TTGACA 1 -- us2k12Minor allele frequency- T:0.07WA EA 238
    rs1452110671,2
    --178993760(+) TAATAC/TAATGC 1 -- us2k10--------
    rs359173151,2
    C,F--178993856(+) TTTCTC/ATAGGA 1 -- us2k13Minor allele frequency- A:0.25NA 8
    rs1859258201,2
    --178994019(+) ATGCTC/TAGCAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM20B (178994939 - 179045702 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FAM20B: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM20B
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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

    FAM20B for disorders           About GeneDecksing

    OMIM gene information: 611063    OMIM disorders: --

    4 diseases for FAM20B:    About MalaCards
    tonsillitis    hepatitis b    hepatitis    alcoholism

    1 disease from the University of Copenhagen DISEASES database for FAM20B:
    Amelogenesis imperfecta
    Human Genome Epidemiology (HuGE) Navigator: FAM20B (1 document)

    Export disorders for FAM20B 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 FAM20B gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with FAM20B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region. (PubMed id 19473117)1, 2, 3 Koike T.... Kitagawa H. (2009)
    2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2, 3 Seki N.... Ohara O. (1997)
    3. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PubMed id 15676076)1, 2, 9 Nalbant D.... Williams S.C. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    7. 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis. (PubMed id 18400750)2 Tone Y....Sugahara K. (2008)
    8. Correlation of molecular characteristics, isotype, and in vitro functional activity of human antipneumococcal monoclonal antibodies. (PubMed id 16428749)1 Baxendale H.E. and Goldblatt D. (2006)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9917 HGNC: 23017 AceView: FAM20B Ensembl:ENSG00000116199 euGenes: HUgn9917
    ECgene: FAM20B H-InvDB: FAM20B

    (According to HUGE)
    About This Section
    HUGE: KIAA0475

    (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
    NameDescription
    PharmGKB entry for FAM20B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FAM20B gene:
    Search GeneIP for patents involving FAM20B

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    von Willebrand factor
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