Fam20c FAM20C, golgi associated secretory pathway kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fam20cprovided by MGI
Official Full Name: FAM20C, golgi associated secretory pathway kinaseprovided by MGI
Primary source: MGI:MGI:2136853
See related: Ensembl:ENSMUSG00000025854 AllianceGenome:MGI:2136853
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: DMP4; DMP-4; GEF-CK; mKIAA4081
Summary: Enables calcium ion binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Acts upstream of or within several processes, including odontoblast differentiation; odontogenesis of dentin-containing tooth; and osteoclast maturation. Located in Golgi apparatus and extracellular space. Is expressed in several structures, including alimentary system; central nervous system; connective tissue; genitourinary system; and musculoskeletal system. Used to study rickets. Human ortholog(s) of this gene implicated in amelogenesis imperfecta. Orthologous to human FAM20C (FAM20C golgi associated secretory pathway kinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in ovary adult (RPKM 31.6), kidney adult (RPKM 20.3) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 77.19 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (138740836..138795818)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (138755081..138810063)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.
Title: Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.
Fam20C overexpression in odontoblasts regulates dentin formation and odontoblast differentiation.
Title: Fam20C overexpression in odontoblasts regulates dentin formation and odontoblast differentiation.
Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
Title: Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia.
Title: Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia.
FAM20C plays a critical role in the development of mouse vertebra.
Title: FAM20C plays a critical role in the development of mouse vertebra.
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.
Ablation of Fam20c causes amelogenesis imperfecta via inhibiting Smad dependent BMP signaling pathway.
Title: Ablation of Fam20c causes amelogenesis imperfecta via inhibiting Smad dependent BMP signaling pathway.
Effect of high phosphate diet on the formation of dentin in Fam20c-deficient mice.
Title: Effect of high phosphate diet on the formation of dentin in Fam20c-deficient mice.
Overexpression of Fam20C in osteoblast in vivo leads to increased cortical bone formation and osteoclastic bone resorption.
Title: Overexpression of Fam20C in osteoblast in vivo leads to increased cortical bone formation and osteoclastic bone resorption.
Proteomic Analysis of Restored Insulin Production and Trafficking in Obese Diabetic Mouse Pancreatic Islets Following Euglycemia.
Title: Proteomic Analysis of Restored Insulin Production and Trafficking in Obese Diabetic Mouse Pancreatic Islets Following Euglycemia.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

D5Mit121 (e-PCR), detects polymorphism
- UniSTS:130245

RH126073 (e-PCR)
- UniSTS:162785

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dentinogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within osteoclast maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology 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 protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of phosphorus metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

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	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in membrane	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: extracellular serine/threonine protein kinase FAM20C

Names: dentin matrix protein 4; family with sequence similarity 20, member C; golgi-enriched fraction casein kinase

NP_001346522.1

EC 2.7.11.1

NP_085042.2

EC 2.7.11.1

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)

NM_001359593.1 → NP_001346522.1 extracellular serine/threonine protein kinase FAM20C isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC113533, AC165444, AK149780

Conserved Domains (1) summary

cd10471
Location:92 → 303

FAM20C_C; C-terminal putative kinase domain of FAM20C (also known as Dentin Matrix Protein 4, DMP4)
NM_030565.6 → NP_085042.2 extracellular serine/threonine protein kinase FAM20C isoform 1

See identical proteins and their annotated locations for NP_085042.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC113533, AC165444

Consensus CDS

CCDS51681.1

UniProtKB/Swiss-Prot

Q4FJP0, Q571A3, Q5MJS3, Q6PKA8, Q8JZP7

Related

ENSMUSP00000026972.8, ENSMUST00000026972.8

Conserved Domains (1) summary

cd10471
Location:349 → 560

FAM20C_C; C-terminal putative kinase domain of FAM20C (also known as Dentin Matrix Protein 4, DMP4)