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

Gene ID: 56975, updated on 5-Jul-2020

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
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

Genomic context

See FAM20C in Genome Data Viewer
Location:
7p22.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (192571..260772)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (192969..300740)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375115 Neighboring gene TRIO and F-actin-binding protein-like Neighboring gene FOXL3 overlapping transcript 1 Neighboring gene forkhead box L3 Neighboring gene uncharacterized LOC105375118

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22487, FLJ43291, DKFZp547C074

Gene Ontology Provided by GOA

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

General protein information

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_016867939.1
XP_016867940.1
XP_016867941.1
XP_016867942.1
XP_016867943.1
XP_016867944.1

NCBI Reference Sequences (RefSeq)

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_033970.1 RefSeqGene

    Range
    4603..70408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020223.4NP_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
    Q8IXL6
    Related
    ENSP00000322323.5, ENST00000313766.6
    Conserved Domains (1) summary
    cd10471
    Location:354565
    FAM20C_C; C-terminal putative kinase domain of FAM20C (also known as Dentin Matrix Protein 4, DMP4)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017012453.1XP_016867942.1  extracellular serine/threonine protein kinase FAM20C isoform X4

  2. XM_017012454.1XP_016867943.1  extracellular serine/threonine protein kinase FAM20C isoform X5

  3. XM_017012450.1XP_016867939.1  extracellular serine/threonine protein kinase FAM20C isoform X1

  4. XM_017012451.1XP_016867940.1  extracellular serine/threonine protein kinase FAM20C isoform X2

  5. XM_017012452.1XP_016867941.1  extracellular serine/threonine protein kinase FAM20C isoform X3

  6. XM_017012455.2XP_016867944.1  extracellular serine/threonine protein kinase FAM20C isoform X6

RNA

  1. XR_242097.3 RNA Sequence

  2. XR_001744837.1 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021159998.1 Reference GRCh38.p13 PATCHES

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187558.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187653.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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