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FAM20C Gene(Protein Coding)

Family With Sequence Similarity 20 Member C

GCID:
GC07P000192
GIFtS:
61
Genes Participants
UDN Logo

Aliases for FAM20C Gene

Aliases for FAM20C Gene

  • Family With Sequence Similarity 20 Member C 2 3 5
  • Dentin Matrix Protein 4 2 3 4
  • Family With Sequence Similarity 20, Member C 2 3
  • Golgi-Enriched Fraction Casein Kinase 3 4
  • Golgi Casein Kinase 3 4
  • GEF-CK 3 4
  • DMP-4 3 4
  • DMP4 3 4
  • EC 2.7.11.1 4
  • RNS 3

External Ids for FAM20C Gene

Previous GeneCards Identifiers for FAM20C Gene

  • GC07U900326
  • GC07P000276
  • GC07P000289
  • GC07P000290

Summaries for FAM20C Gene

Entrez Gene Summary for FAM20C Gene

  • 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]

GeneCards Summary for FAM20C Gene

FAM20C (Family With Sequence Similarity 20 Member C) is a Protein Coding gene. Diseases associated with FAM20C include Raine Syndrome and Autosomal Recessive Hypophosphatemic Rickets. GO annotations related to this gene include calcium ion binding and protein serine/threonine kinase activity. An important paralog of this gene is FAM20B.

UniProtKB/Swiss-Prot for FAM20C Gene

  • Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039).

Gene Wiki entry for FAM20C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM20C Gene

Genomics for FAM20C Gene

Products:

  1. Regulatory Element

Regulatory Elements for FAM20C Gene

Enhancers for FAM20C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAM20C on UCSC Golden Path with GeneCards custom track

Promoters for FAM20C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM20C on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FAM20C gene promoter:

Genomic Location for FAM20C Gene

Chromosome:
7
Start:
192,777 bp from pter
End:
260,774 bp from pter
Size:
67,998 bases
Orientation:
Plus strand

Genomic View for FAM20C Gene

Genes around FAM20C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM20C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM20C Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAM20C Gene

Proteins for FAM20C Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FAM20C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXL6-FA20C_HUMAN
    Recommended name:
    Extracellular serine/threonine protein kinase FAM20C
    Protein Accession:
    Q8IXL6
    Secondary Accessions:
    • A4D2Q5
    • L8B5W8
    • Q5I0W9
    • Q7Z4I0
    • Q9NPT2

    Protein attributes for FAM20C Gene

    Size:
    584 amino acids
    Molecular mass:
    66234 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with FAM20A; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C.
    SequenceCaution:
    • Sequence=AAH40074.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAL23705.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM20C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM20C Gene

Proteomics data for FAM20C Gene at MOPED

Protein Expression for FAM20C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAM20C Gene

Other Protein References for FAM20C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM20C Gene

Domains & Families for FAM20C Gene

Protein Domains for FAM20C Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM20C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXL6

UniProtKB/Swiss-Prot:

FA20C_HUMAN :
  • Belongs to the FAM20 family.
Family:
  • Belongs to the FAM20 family.
genes like me logo Genes that share domains with FAM20C: view

No data available for Gene Families for FAM20C Gene

Function for FAM20C Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for FAM20C Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.8 uM for manganese/ATP {ECO:0000269 PubMed:23754375};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Serine/threonine protein kinase activity is increased upon interaction with FAM20A.
UniProtKB/Swiss-Prot Function:
Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039).

Enzyme Numbers (IUBMB) for FAM20C Gene

Gene Ontology (GO) - Molecular Function for FAM20C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA,IDA 22582013
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with FAM20C: view

Phenotypes for FAM20C Gene

MGI mutant phenotypes for FAM20C:
inferred from 3 alleles
GenomeRNAi human phenotypes for FAM20C:
genes like me logo Genes that share phenotypes with FAM20C: view

Human Phenotype Ontology for FAM20C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM20C Gene

MGI Knock Outs for FAM20C:

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM20C

CRISPR Products

miRNA for FAM20C Gene

miRTarBase miRNAs that target FAM20C

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for FAM20C Gene

Localization for FAM20C Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM20C Gene

Secreted. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM20C Gene COMPARTMENTS Subcellular localization image for FAM20C gene
Compartment Confidence
extracellular 5
golgi apparatus 5
nucleus 3
cytosol 2
endoplasmic reticulum 2
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for FAM20C Gene

Pathways & Interactions for FAM20C Gene

SuperPathways for FAM20C Gene

PathCards logoMore details on SuperPathways for FAM20C
No Data Available

Interacting Proteins for FAM20C Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000322323%0d%0a9606.ENSP00000311290%0d%0a
Selected Interacting proteins: Q8IXL6-FA20C_HUMAN ENSP00000322323 for FAM20C Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for FAM20C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IDA 23754375
GO:0031214 biomineral tissue development IMP 22582013
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway IEA --
GO:0070166 enamel mineralization IEA --
GO:0071895 odontoblast differentiation IEA --
genes like me logo Genes that share ontologies with FAM20C: view

No data available for Pathways by source and SIGNOR curated interactions for FAM20C Gene

Drugs & Compounds for FAM20C Gene

Products:

  1. Drug

(1) Drugs for FAM20C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with FAM20C: view

Transcripts for FAM20C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FAM20C Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM20C Gene

Family with sequence similarity 20, member C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM20C Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5
SP1: - -
SP2: -
SP3: - - - -
SP4:

Relevant External Links for FAM20C Gene

GeneLoc Exon Structure for
FAM20C
ECgene alternative splicing isoforms for
FAM20C

Expression for FAM20C Gene

Products:

  1. Primer

mRNA expression in normal human tissues for FAM20C Gene

mRNA expression in normal human tissues for FAM20C Gene
mRNA expression by BioGPS for FAM20C GenemRNA expression by GTEx for FAM20C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM20C Gene

This gene is overexpressed in Serum (48.0) and Plasma (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM20C Gene



SOURCE GeneReport for Unigene cluster for FAM20C Gene Hs.134742

mRNA Expression by UniProt/SwissProt for FAM20C Gene

Q8IXL6-FA20C_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with FAM20C: view

Protein tissue co-expression partners for FAM20C Gene

Primer Products

No data available for mRNA differential expression in normal tissues for FAM20C Gene

Orthologs for FAM20C Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM20C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia FAM20C 35
  • 86.97 (n)
  • 87.71 (a)
FAM20C 36
  • 87 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia FAM20C 35
  • 87.84 (n)
  • 89.85 (a)
FAM20C 36
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fam20c 35
  • 83.71 (n)
  • 87.22 (a)
Fam20c 16
Fam20c 36
  • 87 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia LOC740357 35
  • 98.81 (n)
  • 98.21 (a)
FAM20C 36
  • 96 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fam20c 35
  • 83.42 (n)
  • 86.87 (a)
oppossum
(Monodelphis domestica)
 Mammalia FAM20C 36
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 90 (a)
 OneToMany
-- 36
  • 66 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves FAM20C 35
  • 74.3 (n)
  • 83.33 (a)
FAM20C 36
  • 81 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FAM20C 36
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100498448 35
  • 69.53 (n)
  • 75.99 (a)
zebrafish
(Danio rerio)
 Actinopterygii fam20cb 35
  • 69.67 (n)
  • 76.06 (a)
FAM20C (1 of 2) 36
  • 72 (a)
 OneToMany
fam20cb 36
  • 74 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG31145 36
  • 25 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea H03A11.1 36
  • 35 (a)
 OneToMany
Species with no ortholog for FAM20C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAM20C Gene

ENSEMBL:
Gene Tree for FAM20C (if available)
TreeFam:
Gene Tree for FAM20C (if available)

Paralogs for FAM20C Gene

Paralogs for FAM20C Gene

(3) SIMAP similar genes for FAM20C Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM20C: view

Variants for FAM20C Gene

Sequence variations from dbSNP and Humsavar for FAM20C Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_037530 Raine syndrome (RNS)
VAR_037531 Raine syndrome (RNS)
VAR_037532 Raine syndrome (RNS)
VAR_037533 Raine syndrome (RNS)
VAR_073660 Raine syndrome (RNS)

Structural Variations from Database of Genomic Variants (DGV) for FAM20C Gene

Variant ID Type Subtype PubMed ID
nsv428159 CNV Gain 18775914
dgv2042e1 CNV Complex 17122850
dgv7064n71 CNV Gain 21882294
nsv830875 CNV Gain 17160897
nsv471171 CNV Gain 18288195
nsv823947 CNV Gain 20364138
nsv887101 CNV Loss 21882294
nsv464242 CNV Gain 19166990
nsv887108 CNV Gain+Loss 21882294
nsv523285 CNV Loss 19592680
dgv7073n71 CNV Loss 21882294
dgv7074n71 CNV Loss 21882294
nsv464243 CNV Loss 19166990
nsv887110 CNV Loss 21882294
nsv887116 CNV Loss 21882294
dgv7076n71 CNV Loss 21882294
nsv887119 CNV Gain+Loss 21882294
dgv7077n71 CNV Gain 21882294
esv24124 CNV Loss 19812545
nsv823952 CNV Loss 20364138
esv27148 CNV Loss 19812545
esv2659263 CNV Deletion 23128226
esv24248 CNV Loss 19812545
esv1381494 CNV Insertion 17803354
esv1628554 CNV Insertion 17803354
esv2676774 CNV Deletion 23128226
esv2668014 CNV Deletion 23128226
esv2541261 CNV Deletion 19546169
esv23578 CNV Gain+Loss 19812545
esv1593047 CNV Deletion 17803354
esv23573 CNV Gain 19812545
esv1006722 CNV Loss 20482838
esv1274787 CNV Deletion 17803354
esv988948 CNV Deletion 20482838
esv1554494 CNV Deletion 17803354
dgv7078n71 CNV Loss 21882294
nsv887128 CNV Loss 21882294
esv25065 CNV Gain+Loss 19812545
esv2656552 CNV Deletion 23128226
esv2436771 CNV Deletion 19546169
esv1021366 CNV Deletion 17803354
esv1607109 CNV Deletion 17803354
esv1714082 CNV Deletion 17803354
nsv823953 CNV Loss 20364138
dgv1083n67 CNV Gain 20364138
esv2248874 CNV Deletion 18987734

Variation tolerance for FAM20C Gene

Gene Damage Index Score: 4.11; 61.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM20C Gene

Human Gene Mutation Database (HGMD)
FAM20C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM20C Gene

Disorders for FAM20C Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM20C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
raine syndrome
  • combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis
autosomal recessive hypophosphatemic rickets
  • arhr
choanal atresia
  • pca
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FA20C_HUMAN
  • Raine syndrome (RNS) [MIM:259775]: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. {ECO:0000269 PubMed:17924334, ECO:0000269 PubMed:22582013, ECO:0000269 PubMed:25789606}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM20C

Genetic Association Database (GAD)
FAM20C
Human Genome Epidemiology (HuGE) Navigator
FAM20C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM20C
genes like me logo Genes that share disorders with FAM20C: view

No data available for Genatlas for FAM20C Gene

Publications for FAM20C Gene

  1. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (PMID: 17924334) Simpson M.A. … Crosby A.H. (Am. J. Hum. Genet. 2007) 2 3 4 67
  2. Family with sequence similarity member 20C is the primary but not the only kinase for the small-integrin-binding ligand N-linked glycoproteins in bone. (PMID: 26324849) Yang X. … Wang X. (FASEB J. 2015) 2 3
  3. Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. (PMID: 17369251) Hao J. … George A. (J. Biol. Chem. 2007) 2 3
  4. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PMID: 15676076) Nalbant D. … Williams S.C. (BMC Genomics 2005) 3 23
  5. A secretory kinase complex regulates extracellular protein phosphorylation. (PMID: 25789606) Cui J. … Dixon J.E. (Elife 2015) 3

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Sources for FAM20C Gene

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