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

FAM20C Gene

protein-coding   GIFtS: 55
GCID: GC07P000290

family with sequence similarity 20, member C
 Explore 7 diseases affiliated with
FAM20C via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FAM20C    

Aliases
for FAM20C gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Family With Sequence Similarity 20, Member C1 2     DKFZp547D0651
DMP41 2 3 5     IMAGE:49427371
Dentin Matrix Protein 42 3     RNS2
Golgi-Enriched Fraction Casein Kinase2 3     Extracellular Serine/Threonine Protein Kinase FAM20C2
DMP-42 3     EC 2.7.11.13
GEF-CK2 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:
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)

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


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXL6

    • FAM20C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_064608.2  
    ENSEMBL proteins: 
     ENSP00000322323  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: FAM20C
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FAM20C

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--


    FAM20C for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for FAM20C

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    Uscn ELISAs and CLIAs for FAM20C

    Protein Domains /
    Families
    for FAM20C gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FAM20C for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009581 DUF1193
     IPR024869 FAM20

    Graphical View of Domain Structure for InterPro Entry Q8IXL6

    ProtoNet protein and cluster: Q8IXL6

    1 Blocks protein family: IPB009581 Protein of unknown function DUF1193

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


    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

    Enzyme Number (IUBMB): EC 2.7.11.11

    miRNA
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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM20C (see all 4)
    OriGene shRNA RFP: FAM20C
    OriGene siRNA: FAM20C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM20C

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FAM20C

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM20C (see first 1)
    NM_020223 (human cat#: RC207945)  NM_030565 (mouse cat#: MR203162)  NM_001012238 (rat cat#: RR211865)  
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM20C (see all 3)
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    GenScript: all cDNA clones in your preferred vector: FAM20C (NM_020223)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM20C 

    Cell Line
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    Search LifeMap BioReagents cell lines for FAM20C

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

    Gene Ontology (GO): 3 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--
    GO:0046872metal ion binding ----


    FAM20C for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FAM20C:
     Decreased Wnt reporter activit 

    Animal Models:
         Mouse knock-out Fam20ctm1Lex for FAM20C
         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


    Pathways & Interactions
    for FAM20C gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

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

    5/8 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0030501positive regulation of bone mineralization IEA--
    GO:0031214biomineral tissue development ----
    GO:0036179osteoclast maturation IEA--
    GO:0040036regulation of fibroblast growth factor receptor signaling pathway 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, 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

    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 235 Homo sapiens; Mar 10 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,
    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, 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
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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM20C (see all 4)
    OriGene shRNA RFP: FAM20C
    OriGene siRNA: FAM20C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM20C
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM20C (see all 3)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM20C
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA sequence: 

    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):

    AI871150 BX474815 CD723798 AW006130 AI964007 CD368083 BE779175 BU195990 
    BM681201 BM726547 BG926130 AK026140 BF512956 BG419616 BG326756 BQ017679 
    AI916511 BQ012203 BM747795 CO248712 BM836254 BM973979 BQ940628 CF128311 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCCCGTCGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FAM20C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
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    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 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 72(a)
    		 1 ↔ 1
    		 GL343385.1(390325-428757)
    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
    		 --
    		 22(a)
    		 1 → many
    		 3R(19431473-19495378)
    worm
    (Caenorhabditis elegans)    		 Secernentea H03A11.16
    		 Protein H03A11.1
    		 32(a)
    		 1 → many
    		 X(15209222-15213190)


    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  
    2 SIMAP similar genes for FAM20C using alignment to 1 protein entry:     DMP4_HUMAN:
    FAM20A    FAM20B

    FAM20C for paralogs           About GeneDecksing



    Genomic Variants
    for FAM20C gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1655 NCBI SNPs in FAM20C are shown (see all 1655)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1837767581,2
    		--191017(+) CCACAA/CCCGGG 1 -- us2k10--------
    rs1894001091,2
    		--191060(+) GTGACA/CCTGTC 1 -- us2k10--------
    rs1415494401,2
    		--191096(+) AGTGGA/GAGGAA 1 -- us2k10--------
    rs1507242271,2
    		--191132(+) GTGAAA/GCTGTC 1 -- us2k10--------
    rs49169341,2
    		C,--191280(+) TGGAAC/GAACTT 1 -- us2k1 tfbs30--------
    rs1476010571,2
    		--191312(+) GGGTGA/CCCACG 1 -- us2k10--------
    rs730407611,2
    		C,--191314(+) GTGCCC/TACGGA 1 -- us2k13Minor allele frequency- T:0.10NA EA 242
    rs1403919561,2
    		--191392(+) TTCACA/GTCAGA 1 -- us2k10--------
    rs609620571,2
    		C,F,--191423(+) GGCGGG/AGAGGG 1 -- us2k19Minor allele frequency- A:0.46WA NA CSA EA 368
    rs748388521,2
    		F,--191462(+) TAAGAG/TGGGGG 1 -- us2k12Minor allele frequency- T:0.08WA EA 238

    HapMap Linkage Disequilibrium report for FAM20C (192969 - 300711 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for FAM20C
         9 CNVs: 69738 99834 69733 29778 69740 99835 3659 69732 69739
         6 Indels: 64732 28625 28632 28631 28626 28630
    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FAM20C for disorders           About GeneDecksing

    OMIM gene information: 611061   
    OMIM disorders: 259775  
    UniProtKB/Swiss-Prot: DMP4_HUMAN, Q8IXL6
  • Defects in FAM20C are the cause of Raine syndrome (RNS) [MIM:259775]. RNS is an autosomal recessive
    • osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis,
    craniofacial dysplasia and microcephaly

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

    2 diseases from the University of Copenhagen DISEASES database for FAM20C:
    Diarrhea     Keratitis
    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 16):
    (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. Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. (PubMed id 17369251)1, 3 Hao J....George A. (2007)
    5. 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)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    7. Osteosclerotic bone dysplasia in siblings with a Fam2 0C mutation. (PubMed id 20825432)1 Fradin M....Doray B. (2011)
    8. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    9. Prevalence and complications of single-gene and chrom osomal disorders in craniosynostosis. (PubMed id 20643727)1 Wilkie A.O....Wall S.A. (2010)
    10. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)

    External Searches for FAM20C gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    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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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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