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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
Title: Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
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.
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.
Prognostic and immunological role of Fam20C in pan-cancer.
Title: Prognostic and immunological role of Fam20C in pan-cancer.
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.
The ABCs of the atypical Fam20 secretory pathway kinases.
Title: The ABCs of the atypical Fam20 secretory pathway kinases.
Ras-transformation reduce FAM20C expression and osteopontin phosphorylation.
Title: Ras-transformation reduce FAM20C expression and osteopontin phosphorylation.
Two Novel FAM20C Variants in A Family with Raine Syndrome.
Title: Two Novel FAM20C Variants in A Family with Raine Syndrome.
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	Compare labs

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12122 (e-PCR)
- UniSTS:56908

SHGC-148600 (e-PCR)
- UniSTS:176488

SHGC-146618 (e-PCR)
- UniSTS:175329

HSC178_(GAP_665_G) (e-PCR)
- UniSTS:255203

HSC179_(GAP_397_G) (e-PCR)
- UniSTS:255204

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 more info	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

EC 2.7.11.1

XP_047276581.1

EC 2.7.11.1

XP_054188409.1

EC 2.7.11.1

XP_054214648.1

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.