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

Gene ID: 56975, updated on 11-Apr-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
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Genomic context

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Location:
7p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (192571..260772)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (293238..360993)
105.20220307 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
  • 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. FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes. Palma-Lara I, et al. Int J Mol Sci, 2021 Jul 27. PMID 34360805, Free PMC Article
  3. The ABCs of the atypical Fam20 secretory pathway kinases. Worby CA, et al. J Biol Chem, 2021 Jan-Jun. PMID 33759783, Free PMC Article
  4. Prognostic and immunological role of Fam20C in pan-cancer. Liu X, et al. Biosci Rep, 2021 Jan 29. PMID 33306121, Free PMC Article
  5. Two Novel FAM20C Variants in A Family with Raine Syndrome. Hernández-Zavala A, et al. Genes (Basel), 2020 Feb 20. PMID 32093234, Free PMC Article

See all (60) 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
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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 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 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 autophosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein metabolic process TAS
Traceable Author Statement
more info
  
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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