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    FAM20C FAM20C golgi associated secretory pathway kinase [ Homo sapiens (human) ]

    Gene ID: 56975, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM20Cprovided by HGNC
    Official Full Name
    FAM20C golgi associated secretory pathway kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:22140
    See related
    Ensembl:ENSG00000177706 MIM:611061; AllianceGenome:HGNC:22140
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNS; DMP4; G-CK; DMP-4; GEF-CK
    Summary
    This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
    Expression
    Ubiquitous expression in kidney (RPKM 13.7), fat (RPKM 6.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM20C in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (192571..260772)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (293238..360993)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (192571..300738)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901806 Neighboring gene uncharacterized LOC124901808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:188255-188923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:195348-196325 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:200334-200504 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:205256-205424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:206083-206732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:206733-207382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:214209-214786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:218347-219342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:220337-221331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:221332-222325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:226080-226580 Neighboring gene G patch domain-containing protein 8-like Neighboring gene FOXL3 overlapping transcript 1 Neighboring gene forkhead box L3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Epigenetic and transcriptional activation of the secretory kinase FAM20C as an oncogene in glioma. Gong B, et al. J Genet Genomics, 2023 Jun. PMID 36708808
    2. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Simpson MA, et al. Clin Genet, 2009 Mar. PMID 19250384
    3. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Fradin M, et al. Clin Genet, 2011 Aug. PMID 20825432
    4. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Ababneh FK, et al. Am J Med Genet A, 2013 Dec. PMID 24039075
    5. Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome. Takeyari S, et al. Bone, 2014 Oct. PMID 24982027

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic and transcriptional activation of the secretory kinase FAM20C as an oncogene in glioma.
      Title: Epigenetic and transcriptional activation of the secretory kinase FAM20C as an oncogene in glioma.
    2. Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
      Title: Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
    3. Fam20C Regulates Bone Resorption and Breast Cancer Bone Metastasis through Osteopontin and BMP4.
      Title: Fam20C Regulates Bone Resorption and Breast Cancer Bone Metastasis through Osteopontin and BMP4.
    4. Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.
      Title: Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.
    5. Prognostic and immunological role of Fam20C in pan-cancer.
      Title: Prognostic and immunological role of Fam20C in pan-cancer.
    6. FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
      Title: FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
    7. The ABCs of the atypical Fam20 secretory pathway kinases.
      Title: The ABCs of the atypical Fam20 secretory pathway kinases.
    8. Ras-transformation reduce FAM20C expression and osteopontin phosphorylation.
      Title: Ras-transformation reduce FAM20C expression and osteopontin phosphorylation.
    9. Two Novel FAM20C Variants in A Family with Raine Syndrome.
      Title: Two Novel FAM20C Variants in A Family with Raine Syndrome.
    10. Fam20C regulates protein secretion by Cab45 phosphorylation.
      Title: Fam20C regulates protein secretion by Cab45 phosphorylation.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Lethal osteosclerotic bone dysplasia
    MedGen: C1850106 OMIM: 259775 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22487, FLJ43291, DKFZp547C074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in biomineral tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dentinogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in enamel mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in odontoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoclast maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-translational protein modification TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of phosphorus metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    extracellular serine/threonine protein kinase FAM20C
    Names
    Golgi casein kinase
    dentin matrix protein 4
    family with sequence similarity 20, member C
    golgi-enriched fraction casein kinase
    NP_064608.2
    XP_047276581.1
    XP_054188409.1
    XP_054214648.1

    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.

    Genomic

    1. NG_033970.2 RefSeqGene

      Range
      5002..70807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020223.4 → NP_064608.2  extracellular serine/threonine protein kinase FAM20C precursor

      See identical proteins and their annotated locations for NP_064608.2

      Status: REVIEWED

      Source sequence(s)
      AA135568, AC093627, AF533706, BC040074, BQ026938
      Consensus CDS
      CCDS47522.1
      UniProtKB/Swiss-Prot
      A4D2Q5, L8B5W8, Q5I0W9, Q7Z4I0, Q8IXL6, Q9NPT2
      Related
      ENSP00000322323.5, ENST00000313766.6
      Conserved Domains (1) summary
      cd10471
      Location:354 → 565
      FAM20C_C; C-terminal putative kinase domain of FAM20C (also known as Dentin Matrix Protein 4, DMP4)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      192571..260772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420625.1 → XP_047276581.1  extracellular serine/threonine protein kinase FAM20C isoform X1

    RNA

    1. XR_007060117.1 RNA Sequence

    2. XR_007060116.1 RNA Sequence

    3. XR_001744837.2 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021159998.1 Reference GRCh38.p14 PATCHES

      Range
      168259..235989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332434.1 → XP_054188409.1  extracellular serine/threonine protein kinase FAM20C isoform X1

    RNA

    1. XR_008485775.1 RNA Sequence

    2. XR_008485773.1 RNA Sequence

    3. XR_008485774.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187558.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      151975..155136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187653.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      184892..188053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      293238..360993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358673.1 → XP_054214648.1  extracellular serine/threonine protein kinase FAM20C isoform X1

    RNA

    1. XR_008487706.1 RNA Sequence

    2. XR_008487704.1 RNA Sequence

    3. XR_008487705.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXL6.2 GenPept UniProtKB/Swiss-Prot:Q8IXL6

    Gene LinkOut

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

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