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Aliases for FAM20C Gene

Aliases for FAM20C Gene

  • Family With Sequence Similarity 20, Member C 2 3
  • Dentin Matrix Protein 4 2 3 4
  • DMP4 3 4 6
  • Golgi-Enriched Fraction Casein Kinase 3 4
  • GEF-CK 3 4
  • DMP-4 3 4
  • Extracellular Serine/Threonine Protein Kinase FAM20C 3
  • Protein FAM20C 4
  • EC 2.7.11.1 4
  • RNS 3

External Ids for FAM20C Gene

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. 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

  • Calcium-binding kinase that phosphorylates the caseins and several secreted proteins implicated in biomineralization, including the secretory calcium binding phosphoproteins (SCPP). Preferencially phosphorylates its targets within the S-x-E/pS motif.

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

Genomic Location for FAM20C Gene

Start:
192,969 bp from pter
End:
260,774 bp from pter
Size:
67,806 bases
Orientation:
Plus strand

Genomic View for FAM20C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM20C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM20C Gene

Regulatory Elements for FAM20C Gene

Proteins for FAM20C Gene

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

    Protein Symbol:
    Q8IXL6-DMP4_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
    Quaternary structure:
    No Data Available
    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

Post-translational modifications for FAM20C Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser41, Ser47, Ser74, Ser75, Thr87, Asn101, Ser148, Ser150, Asn335, and Asn470

Other Protein References for FAM20C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM20C Gene

Domains for FAM20C Gene

Protein Domains for FAM20C Gene

Suggested Antigen Peptide Sequences for FAM20C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXL6

UniProtKB/Swiss-Prot:

DMP4_HUMAN
Family:
  • Belongs to the FAM20 family.:
    • Q8IXL6
genes like me logo Genes that share domains with FAM20C: view

No data available for Gene Families for FAM20C Gene

Function for FAM20C Gene

Molecular function for FAM20C Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function: Calcium-binding kinase that phosphorylates the caseins and several secreted proteins implicated in biomineralization, including the secretory calcium binding phosphoproteins (SCPP). Preferencially phosphorylates its targets within the S-x-E/pS motif.

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 IDA 22582013
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FAM20C: view
genes like me logo Genes that share phenotypes with FAM20C: view

Animal Models for FAM20C Gene

MGI Knock Outs for FAM20C:

miRNA for FAM20C Gene

miRTarBase miRNAs that target FAM20C

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

Localization for FAM20C Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM20C Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM20C Gene COMPARTMENTS Subcellular localization image for FAM20C gene
Compartment Confidence
endoplasmic reticulum 2
extracellular 2
golgi apparatus 2
mitochondrion 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FAM20C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22582013
GO:0005794 Golgi apparatus IDA 22582013
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FAM20C: view

Pathways for FAM20C Gene

SuperPathways for FAM20C Gene

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-DMP4_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:0001501 skeletal system development --
GO:0006468 protein phosphorylation IEA --
GO:0030501 positive regulation of bone mineralization IEA --
GO:0036179 osteoclast maturation IEA --
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FAM20C: view

No data available for Pathways by source for FAM20C Gene

Compounds for FAM20C Gene

(1) HMDB Compounds for FAM20C Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with FAM20C: view

Transcripts for FAM20C Gene

Unigene Clusters for FAM20C Gene

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

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

mRNA expression in normal human tissues for FAM20C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FAM20C Gene

SOURCE GeneReport for Unigene cluster for FAM20C Gene Hs.134742

mRNA Expression by UniProt/SwissProt for FAM20C Gene

Q8IXL6-DMP4_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with FAM20C: view

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
chimpanzee
(Pan troglodytes)
Mammalia FAM20C 36
  • 96 (a)
OneToOne
LOC740357 35
  • 98.81 (n)
  • 98.21 (a)
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
oppossum
(Monodelphis domestica)
Mammalia FAM20C 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam20c 35
  • 83.42 (n)
  • 86.87 (a)
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 FAM20C (1 of 2) 36
  • 72 (a)
OneToMany
fam20cb 35
  • 69.67 (n)
  • 76.06 (a)
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

Selected 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 MAF
rs3935015 -- 209,235(+) AGAAT(A/G)AGCAT intron-variant
rs4072786 -- 243,085(+) ACCCA(A/G)GAGAC intron-variant
rs4072787 -- 243,228(+) CACCC(A/G)AGAGA intron-variant
rs4072788 -- 243,228(+) ACCCG(A/G)GAGAC intron-variant
rs4072789 -- 243,300(+) CACCC(A/G)GGAGA intron-variant

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

Relevant External Links for FAM20C Gene

HapMap Linkage Disequilibrium report
FAM20C
Human Gene Mutation Database (HGMD)
FAM20C

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

Disorders for FAM20C Gene

(1) OMIM Diseases for FAM20C Gene (611061)

UniProtKB/Swiss-Prot

DMP4_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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) MalaCards Diseases for FAM20C Gene

Search for FAM20C Gene in MalaCards »

(2) University of Copenhagen DISEASES for FAM20C Gene

Relevant External Links for FAM20C

Genetic Association Database (GAD)
FAM20C
Human Genome Epidemiology (HuGE) Navigator
FAM20C
genes like me logo Genes that share disorders with FAM20C: view

Publications for FAM20C Gene

  1. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PMID: 15676076) Nalbant D. … Williams S.C. (BMC Genomics 2005) 3 4 23
  2. 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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 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
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4

Products for FAM20C Gene

Sources for FAM20C Gene

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