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FAM20C Gene

protein-coding   GIFtS: 57
GCID: GC07P000290

Family With Sequence Similarity 20, Member C

  See FAM20C-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Family With Sequence Similarity 20, Member C1 2     GEF-CK2 3
Dentin Matrix Protein 41 2 3     RNS2
DMP42 3 5     Extracellular Serine/Threonine Protein Kinase FAM20C2
Golgi-Enriched Fraction Casein Kinase2 3     EC 2.7.11.13
DMP-42 3     Protein FAM20C3

External Ids:    HGNC: 221401   Entrez Gene: 569752   Ensembl: ENSG000001777067   OMIM: 6110615   UniProtKB: Q8IXL63   

Export aliases for FAM20C gene to outside databases

Previous GC identifers: GC07U900326 GC07P000276 GC07P000289


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FAM20C Gene:
This gene encodes a member of the family with sequence similarity 20 (FAM20) family of secreted proteins. A
similar gene in mice encodes a protein that plays a role in dentin mineralization, and mutations in the human
gene are associated with the autosomal recessive disorder Raine syndrome. (provided by RefSeq, Nov 2011)

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 protein serine/threonine kinase activity and calcium ion binding. An important paralog of this gene is FAM20A.

UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6
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

Gene Wiki entry for FAM20C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  NT_187558.1  NT_187653.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM20C gene promoter:
         Pax-5   HOXA3   LCR-F1   AREB6   MEF-2A   FAC1   Sox9   aMEF-2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM20C promoter sequence
   Search Chromatin IP Primers for FAM20C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM20C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22.3   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

FAM20C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM20C gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P000290:  view genomic region     (about GC identifiers)

Start:
192,969 bp from pter      End:
300,711 bp from pter
Size:
107,743 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 303,573-364,779     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6 (See protein sequence)
Recommended Name: Extracellular serine/threonine protein kinase FAM20C precursor  
Size: 584 amino acids; 66234 Da
Sequence caution: Sequence=AAH40074.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=EAL23705.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A4D2Q5 L8B5W8 Q5I0W9 Q7Z4I0 Q9NPT2
Alternative splicing: 2 isoforms:  Q8IXL6-1   Q8IXL6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM20C: NX_Q8IXL6

Explore proteomics data for FAM20C at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser41, Ser47, Ser74, Ser75, Thr87, Asn101, Ser148, Ser150, Asn335, Asn470
  • Modification sites at PhosphoSitePlus

  • See FAM20C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064608.2  
    ENSEMBL proteins: 
     ENSP00000322323  

    FAM20C Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FAM20C

     
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    Search eBioscience for ELISAs for FAM20C 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR009581 DUF1193
     IPR024869 FAM20

    Graphical View of Domain Structure for InterPro Entry Q8IXL6

    ProtoNet protein and cluster: Q8IXL6

    1 Blocks protein domain: IPB009581 Protein of unknown function DUF1193

    UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6
    Similarity: Belongs to the FAM20 family


    Find genes that share domains with FAM20C           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DMP4_HUMAN, Q8IXL6
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IDA--
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with FAM20C           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FAM20C:
     Decreased Wnt reporter activit 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fam20c) (see all 16):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with FAM20C           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fam20ctm1Lex for FAM20C

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM20C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM20C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM20C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM20C

    miRNA
    Products:
        
    miRTarBase miRNAs that target FAM20C:
    hsa-mir-92a-3p (MIRT049711)

    Block miRNA regulation of human, mouse, rat FAM20C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM20C (see all 10):
    hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3692 hsa-miR-4325 hsa-miR-518a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM20C

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: FAM20C (NM_020223)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM20C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM20C

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20C


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DMP4_HUMAN, Q8IXL6: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    extracellular2
    golgi apparatus2
    mitochondrion2
    cytosol1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with FAM20C           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAM20C
    Interactions:

        Search GeneGlobe Interaction Network for FAM20C

    Selected Interacting proteins for FAM20C (Q8IXL62, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271135 I2D: score=2 
    SMN2Q166372, 3MINT-8271135 I2D: score=2 
    FAM118BQ9BPY32, 3MINT-8255079 I2D: score=2 
    PFDN1O609252, 3MINT-8265842 I2D: score=2 
    SUV39H2Q9H5I12, 3MINT-8272465 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0006468protein phosphorylation IDA--
    GO:0030501positive regulation of bone mineralization IEA--
    GO:0036179osteoclast maturation IEA--
    GO:0040036regulation of fibroblast growth factor receptor signaling pathway IEA--

    Find genes that share ontologies with FAM20C           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM20C (DMP4)

    1 HMDB Compound for FAM20C    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FAM20C gene: 
    NM_020223.3  

    Unigene Cluster for FAM20C:

    Family with sequence similarity 20, member C
    Hs.134742  [show with all ESTs]
    Unigene Representative Sequence: AK125281
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313766(uc003sip.3) ENST00000477004 ENST00000471328 ENST00000515795(uc011jvn.2)
    ENST00000512382
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FAM20C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM20C (see all 10):
    hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3692 hsa-miR-4325 hsa-miR-518a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM20C
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAM20C (NM_020223)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM20C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM20C
    Primer
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    OriGene qPCR primer pairs and template standards for FAM20C
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM20C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM20C
      QuantiTect SYBR Green Assays in human, mouse, rat FAM20C
      QuantiFast Probe-based Assays in human, mouse, rat FAM20C

    Additional mRNA sequence: 

    AB545605.1 AF533706.1 AK054704.1 AK125281.1 AL390137.1 AL390147.1 BC009531.1 BC040074.1 
    BC068086.1 BC087853.1 

    12 DOTS entries:

    DT.430063  DT.91752628  DT.426172  DT.121645091  DT.121113546  DT.100059256  DT.92011743  DT.92068344 
    DT.121113541  DT.100828393  DT.95111829  DT.95344739 

    Selected AceView cDNA sequences (see all 60):

    CD723798 AI871150 BX474815 AI964007 CD368083 BU195990 BE779175 AW006130 
    CF995737 BM707039 BF512956 BM681201 AI916511 AI870124 BQ940628 BC068086 
    BQ674714 BG419616 BQ447694 BM836254 BF508683 BM747795 BE878897 AK125281 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM20C    About this scheme

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


    ECgene alternative splicing isoforms for FAM20C

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FAM20C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCCCGTCGT
    FAM20C Expression
    About this image


    FAM20C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    FAM20C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM20C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134742

    UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FAM20C gene from 13 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia LOC7403571 extracellular serine/threonine protein kinase Fam2 more 98.81(n)
    98.21(a)
      740357  XM_001142331.3  XP_001142331.2 
    mouse
    (Mus musculus)
    Mammalia Fam20c1 , 5 family with sequence similarity 20, member C1, 5 83.71(n)1
    87.22(a)1
      5 (77.19 cM)5
    807521  NM_030565.61  NP_085042.21 
     1387545145 
    rat
    (Rattus norvegicus)
    Mammalia Fam20c1 family with sequence similarity 20, member C 83.42(n)
    86.87(a)
      304334  NM_001012238.1  NP_001012238.1 
    cow
    (Bos taurus)
    Mammalia FAM20C1 family with sequence similarity 20, member C 86.97(n)
    87.71(a)
      534672  XM_002698175.3  XP_002698221.1 
    dog
    (Canis familiaris)
    Mammalia FAM20C1 family with sequence similarity 20, member C 87.84(n)
    89.85(a)
      491596  XM_005621222.1  XP_005621279.1 
    oppossum
    (Monodelphis domestica)
    Mammalia FAM20C6
    family with sequence similarity 20, member C
    72(a)
    1 ↔ 1
    6(66917379-67073641)
    platypus
    (Ornithorhynchus anatinus)
    Mammalia --
    --
    Uncharacterized protein
    90(a)
    66(a)
    1 ↔ many
    1 ↔ many
    2(10480579-10497794)
    2(10559136-10576521)
    chicken
    (Gallus gallus)
    Aves FAM20C1 family with sequence similarity 20, member C 74.3(n)
    83.33(a)
      416445  XM_414753.4  XP_414753.4 
    lizard
    (Anolis carolinensis)
    Reptilia FAM20C6
    family with sequence similarity 20, member C
    71(a)
    1 ↔ 1
    GL343385.1(390402-430431)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004984481 extracellular serine/threonine protein kinase FAM2 more 69.53(n)
    75.99(a)
      100498448  XM_002931944.2  XP_002931990.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam20cb1 family with sequence similarity 20, member Cb 69.67(n)
    76.06(a)
      560397  XM_683800.6  XP_688892.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG311456
    --
    25(a)
    1 → many
    3R(19431473-19495378)
    worm
    (Caenorhabditis elegans)
    Secernentea H03A11.16
    Protein H03A11.1 (H03A11.1) mRNA, complete cds
    35(a)
    1 → many
    X(15209291-15213259) WBGene00010356
            Species with no ortholog for FAM20C

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM20C gene
    FAM20A2  FAM20B2  
    3 SIMAP similar genes for FAM20C using alignment to 1 protein entry:     DMP4_HUMAN:
    FAM20A    FAM20B    Fam20A

    Find genes that share paralogs with FAM20C           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FAM20C (see all 2050)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0375324
    Raine syndrome (RNS)4--see VAR_0375322 L R mis40--------
    VAR_0375334
    Raine syndrome (RNS)4--see VAR_0375332 R W mis40--------
    VAR_0375314
    Raine syndrome (RNS)4--see VAR_0375312 G R mis40--------
    VAR_0375304
    Raine syndrome (RNS)4--see VAR_0375302 G E mis40--------
    rs1128908801,2
    C,F--181212(+) GGGGGG/AGCCAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1837767581,2
    --191017(+) CCACAA/CCCGGG 1 -- us2k10--------
    rs1894001091,2
    --191060(+) GTGACA/CCTGTC 1 -- us2k10--------
    rs1995389561,2
    C--191087(+) GTCCAC/TGTGAG 1 -- us2k10--------
    rs1415494401,2
    --191096(+) AGTGGA/GAGGAA 1 -- us2k10--------
    rs1507242271,2
    C--191132(+) GTGAAA/GCTGTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM20C (192969 - 300711 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM20C (see all 46):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656552CNV Deletion23128226
    esv1607109CNV Deletion17803354
    esv1274787CNV Deletion17803354
    esv2436771CNV Deletion19546169
    esv1554494CNV Deletion17803354
    esv2668014CNV Deletion23128226
    esv2659263CNV Deletion23128226
    esv2248874CNV Deletion18987734
    esv1714082CNV Deletion17803354
    esv988948CNV Deletion20482838

    Human Gene Mutation Database (HGMD): FAM20C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM20C
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM20C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611061   
    OMIM disorders: 259775  
    UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6
  • Raine syndrome (RNS) [MIM:259775]: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal
    outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for FAM20C:    
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    raine syndrome

    2 diseases from the University of Copenhagen DISEASES database for FAM20C:
    Diarrhea     Keratitis

    Find genes that share disorders with FAM20C           About GenesLikeMe

    Genetic Association Database (GAD): FAM20C
    Human Genome Epidemiology (HuGE) Navigator: FAM20C (1 document)

    Export disorders for FAM20C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FAM20C gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with FAM20C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (PubMed id 17924334)1, 2, 3 Simpson M.A.... Crosby A.H. (Am. J. Hum. Genet. 2007)
    2. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PubMed id 15676076)1, 2, 9 Nalbant D.... Williams S.C. (BMC Genomics 2005)
    3. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. (PubMed id 22582013)1, 2 Tagliabracci V.S.... Dixon J.E. (Science 2012)
    4. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (PubMed id 20643727)1, 4 Wilkie A.O....Wall S.A. (Pediatrics 2010)
    5. Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. (PubMed id 17369251)1, 3 Hao J....George A. (J. Biol. Chem. 2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    8. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. (PubMed id 23325605)1 Rafaelsen S.H....Bjerknes R. (J. Bone Miner. Res. 2013)
    9. The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. (PubMed id 22900076)1 Ishikawa H.O....Irvine K.D. (PLoS ONE 2012)
    10. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56975 HGNC: 22140 AceView: FAM20C Ensembl:ENSG00000177706 euGenes: HUgn56975
    ECgene: FAM20C H-InvDB: FAM20C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FAM20C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAM20C gene:
    Search GeneIP for patents involving FAM20C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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