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    Fam20b FAM20B, glycosaminoglycan xylosylkinase [ Mus musculus (house mouse) ]

    Gene ID: 215015, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Fam20bprovided by MGI
    Official Full Name
    FAM20B, glycosaminoglycan xylosylkinaseprovided by MGI
    Primary source
    MGI:MGI:2443990
    See related
    Ensembl:ENSMUSG00000033557 AllianceGenome:MGI:2443990
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0475; C530043G21Rik
    Summary
    Predicted to enable phosphotransferase activity, alcohol group as acceptor. Predicted to be involved in proteoglycan biosynthetic process. Located in Golgi apparatus. Is expressed in articular cartilage; lower jaw; lower jaw incisor; and lower jaw molar. Orthologous to human FAM20B (FAM20B glycosaminoglycan xylosylkinase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in genital fat pad adult (RPKM 20.4), kidney adult (RPKM 16.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fam20b in Genome Data Viewer
    Location:
    1 G3; 1 67.71 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (156506127..156547204, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (156678562..156719095, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_02742 Neighboring gene ABL proto-oncogene 2, non-receptor tyrosine kinase Neighboring gene STARR-positive B cell enhancer ABC_E10049 Neighboring gene STARR-positive B cell enhancer ABC_E4362 Neighboring gene STARR-seq mESC enhancer starr_02753 Neighboring gene STARR-positive B cell enhancer ABC_E4363 Neighboring gene torsin family 3, member A Neighboring gene STARR-seq mESC enhancer starr_02755 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:158640993-158641176 Neighboring gene STARR-positive B cell enhancer mm9_chr1:158682524-158682825 Neighboring gene predicted gene, 39683 Neighboring gene PCNA-associated factor pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Inactivation of FAM20B causes cell fate changes in annulus fibrosus of mouse intervertebral disc and disc defects via the alterations of TGF-β and MAPK signaling pathways. Saiyin W, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Dec 1. PMID 31513834, Free PMC Article
    2. Inactivation of Fam20b in the neural crest-derived mesenchyme of mouse causes multiple craniofacial defects. Liu X, et al. Eur J Oral Sci, 2018 Oct. PMID 30105814, Free PMC Article
    3. Inactivation of Fam20B in the dental epithelium of mice leads to supernumerary incisors. Tian Y, et al. Eur J Oral Sci, 2015 Dec. PMID 26465965, Free PMC Article
    4. Inactivation of Fam20B in Joint Cartilage Leads to Chondrosarcoma and Postnatal Ossification Defects. Ma P, et al. Sci Rep, 2016 Jul 13. PMID 27405802, Free PMC Article
    5. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. O'Sullivan J, et al. Am J Hum Genet, 2011 May 13. PMID 21549343, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate.
      Title: Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate.
    2. FAM20B-catalyzed glycosaminoglycans control murine tooth number by restricting FGFR2b signaling.
      Title: FAM20B-catalyzed glycosaminoglycans control murine tooth number by restricting FGFR2b signaling.
    3. These results indicate that FAM20B plays an essential role in the development of annulus fibrosus by regulating the TGF-beta signaling and MAPK signaling pathways.
      Title: Inactivation of FAM20B causes cell fate changes in annulus fibrosus of mouse intervertebral disc and disc defects via the alterations of TGF-β and MAPK signaling pathways.
    4. FAM20B-catalyzed proteoglycans regulate postnatal endochondral ossification partially through the mediation of WNT signaling.
      Title: Inactivation of Fam20B in Joint Cartilage Leads to Chondrosarcoma and Postnatal Ossification Defects.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphotransferase activity, alcohol group as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphotransferase activity, alcohol group as acceptor ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphotransferase activity, alcohol group as acceptor ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    glycosaminoglycan xylosylkinase
    Names
    family with sequence similarity 20, member B
    xylose kinase
    NP_001404962.1
    NP_001404963.1
    NP_001404964.1
    NP_001404965.1
    NP_001404966.1
    NP_001404968.1
    NP_663388.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001418033.1 → NP_001404962.1  glycosaminoglycan xylosylkinase isoform a

      Status: VALIDATED

      Source sequence(s)
      AC145078
      UniProtKB/Swiss-Prot
      Q3V201, Q6ZQA3, Q8BWX2, Q8VCS3

    2. NM_001418034.1 → NP_001404963.1  glycosaminoglycan xylosylkinase isoform a

      Status: VALIDATED

      Source sequence(s)
      AC145078
      UniProtKB/Swiss-Prot
      Q3V201, Q6ZQA3, Q8BWX2, Q8VCS3
      Related
      ENSMUSP00000112534.2, ENSMUST00000122424.8

    3. NM_001418035.1 → NP_001404964.1  glycosaminoglycan xylosylkinase isoform a

      Status: VALIDATED

      Source sequence(s)
      AC145078
      UniProtKB/Swiss-Prot
      Q3V201, Q6ZQA3, Q8BWX2, Q8VCS3

    4. NM_001418036.1 → NP_001404965.1  glycosaminoglycan xylosylkinase isoform b

      Status: VALIDATED

      Source sequence(s)
      AC145078

    5. NM_001418037.1 → NP_001404966.1  glycosaminoglycan xylosylkinase isoform b

      Status: VALIDATED

      Source sequence(s)
      AC145078

    6. NM_001418039.1 → NP_001404968.1  glycosaminoglycan xylosylkinase isoform c

      Status: VALIDATED

      Source sequence(s)
      AC145078

    7. NM_145413.5 → NP_663388.1  glycosaminoglycan xylosylkinase isoform a

      See identical proteins and their annotated locations for NP_663388.1

      Status: VALIDATED

      Source sequence(s)
      AC145078
      Consensus CDS
      CCDS15395.1
      UniProtKB/Swiss-Prot
      Q3V201, Q6ZQA3, Q8BWX2, Q8VCS3
      Related
      ENSMUSP00000083322.7, ENSMUST00000086153.8
      Conserved Domains (1) summary
      cd10470
      Location:188 → 394
      FAM20B_C; C-terminal putative kinase domain of FAM20B xylose kinase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      156506127..156547204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCS3.1 GenPept UniProtKB/Swiss-Prot:Q8VCS3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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