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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM20C Gene

protein-coding   GIFtS: 56
GCID: GC07P000290

Family With Sequence Similarity 20, Member C
  See related diseases
at
MalaCards
 

Aliases
for FAM20C gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for FAM20C gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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, and hcl-v. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 plasmid: FAM20C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM20C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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     

Proteins
for FAM20C gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6 (See protein sequence)
Recommended Name: Extracellular serine/threonine protein kinase FAM20C precursor  
Size: 584 amino acids; 66234 Da
Subcellular location: Secreted (By similarity)
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 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IXL6

    • FAM20C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM20C Protein Expression
    REFSEQ proteins: NP_064608.2  
    ENSEMBL proteins: 
     ENSP00000322323  

    Human Recombinant Protein Products for FAM20C: 
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    OriGene Protein Over-expression Lysate for FAM20C
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for FAM20C
    GenScript Custom Purified and Recombinant Proteins Services for FAM20C
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FAM20C 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--

    FAM20C for ontologies           About GeneDecksing



    FAM20C Antibody Products: 
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    Novus Biologicals FAM20C Antibodies
    Abcam antibodies for FAM20C
    Cloud-Clone Corp. Antibodies for FAM20C 
    ThermoFisher Antibody for FAM20C
    LSBio Antibodies in human, mouse, rat for FAM20C 

    Assay Products for FAM20C: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FAM20C
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    Cloud-Clone Corp. ELISAs for FAM20C 
    Cloud-Clone Corp. CLIAs for FAM20C

    Protein Domains /
    Families
    for FAM20C gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    FAM20C for domains           About GeneDecksing


    Function
    for FAM20C gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005509calcium ion binding IEA--
         
    FAM20C for ontologies           About GeneDecksing


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

         15/16 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  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  renal/urinary system  reproductive system  skeleton 

    FAM20C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fam20ctm1Lex for FAM20C

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM20C 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM20C
    8/10 QIAGEN miScript miRNA 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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    OriGene RNAi products in human, mouse, rat for FAM20C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM20C

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FAM20C
    Sirion Biotech Customized adenovirus for overexpression of FAM20C

    Clone
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    OriGene clones in human, mouse for FAM20C (see all 7)
    OriGene ORF clones in mouse, rat for FAM20C
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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
    Sirion Biotech Customized lentivirus for stable overexpression of FAM20C 
                         Customized lentivirus expression plasmids for stable overexpression of FAM20C 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for FAM20C
    Search LifeMap BioReagents cell lines for FAM20C
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20C


    Pathways & Interactions
    for FAM20C gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM20C

    8 Interacting proteins for FAM20C (Q8IXL62, 3) via UniProtKB, MINT, STRING, and/or I2D (see top 5)
    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 
    TAF1DQ9H5J82, 3MINT-8272597 I2D: score=2 
    TK1P041832, 3MINT-8273411 I2D: score=2 
    TSC22D1Q157142, 3MINT-8275358 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0030501positive regulation of bone mineralization IEA--
    GO:0036179osteoclast maturation IEA--
    GO:0040036regulation of fibroblast growth factor receptor signaling pathway IEA--
    GO:0045669positive regulation of osteoblast differentiation IEA--

    FAM20C for ontologies           About GeneDecksing



    Drugs & Compounds
    for FAM20C gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about FAM20C / DMP4

    Transcripts
    for FAM20C gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM20C
    8/10 QIAGEN miScript miRNA 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
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FAM20C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM20C
    Clone
    Products:             		 OriGene clones in human, mouse for FAM20C (see all 7)
    OriGene ORF clones in mouse, rat for FAM20C
    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
    Sirion Biotech Customized lentivirus for stable overexpression of FAM20C 
                         Customized lentivirus expression plasmids for stable overexpression of FAM20C 
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for FAM20C
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM20C
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM20C
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM20C
      QIAGEN 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 

    24/60 AceView cDNA sequences (see all 60):

    AW006130 BU195990 CD368083 BE779175 AI871150 CD723798 AI964007 BX474815 
    CF128311 BG326756 BF508683 AK026140 BG926130 BU170263 BQ674846 AI870124 
    BM681201 BM726547 BM836254 BQ940628 CB130823 AA640041 BM707039 BQ012203 

    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

    Expression
    for FAM20C gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FAM20C expression in normal human tissues (normalized intensities)      FAM20C embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Liver (Hepatobiliary System)
             Fetal Liver Stromal Cells   
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Oral Cavity (Gastrointestinal Tract)
             salivary gland   

    See FAM20C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM20C

    SOURCE GeneReport for Unigene cluster: Hs.134742

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

        SABiosciences Custom PCR Arrays for FAM20C
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FAM20C
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM20C
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM20C
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM20C
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20C

    Orthologs
    for FAM20C gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FAM20C gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 
    chicken
    (Gallus gallus)    		 Aves FAM20C1 family with sequence similarity 20, member C 75.74(n)
    84.54(a)    		   416445  XM_414753.3  XP_414753.3 
    lizard
    (Anolis carolinensis)    		 Reptilia FAM20C6
    		 family with sequence similarity 20, member C
    		 68(a)
    		 1 ↔ 1
    		 GL343385.1(390402-430431)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5603971 dentin matrix protein 4-like 69.55(n)
    75.87(a)    		   560397  XM_683800.5  XP_688892.5 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG311456
    		 --
    		 23(a)
    		 1 → many
    		 3R(19431473-19495378)
    worm
    (Caenorhabditis elegans)    		 Secernentea H03A11.16
    		 Protein H03A11.1
    		 34(a)
    		 1 → many
    		 X(15209291-15213259)


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

    Paralogs
    for FAM20C gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM20C gene
    FAM20A2  FAM20B2  
    4 SIMAP similar genes for FAM20C using alignment to 1 protein entry:     DMP4_HUMAN:
    Fam20C    FAM20A    FAM20B    Fam20A

    FAM20C for paralogs           About GeneDecksing



    Genomic Variants
    for FAM20C gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2050 SNPs in FAM20C are shown (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) 10/46 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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for FAM20C gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 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

    • 7 diseases for FAM20C:    About MalaCards
    raine syndrome    hcl-v    osteosclerosis    craniosynostosis
    keratitis    microcephaly    diarrhea

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

    FAM20C for disorders           About GeneDecksing

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

    Export disorders for FAM20C gene to outside databases

    Publications
    for FAM20C gene

    (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)
    About This Section

    PubMed articles for FAM20C gene, integrated from 9 sources (see all 17):
    (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. (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. (2005)
    3. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. (PubMed id 22582013)1, 2 Tagliabracci V.S.... Dixon J.E. (2012)
    4. Prevalence and complications of single-gene and chrom osomal disorders in craniosynostosis. (PubMed id 20643727)1, 4 Wilkie A.O....Wall S.A. (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. (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. (2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    8. The Raine syndrome protein FAM20C is a Golgi kinase th at phosphorylates bio-mineralization proteins. (PubMed id 22900076)1 Ishikawa H.O....Irvine K.D. (2012)
    9. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    10. Osteosclerotic bone dysplasia in siblings with a Fam2 0C mutation. (PubMed id 20825432)1 Fradin M....Doray B. (2011)

    External Searches for FAM20C gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FAM20C gene

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

    Other Databases showing FAM20C gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FAM20C gene

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

    Intellectual Property
    for FAM20C gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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