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Set Analyses:

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FAM20C Gene

protein-coding GIFtS: 57
GCID: GC07P000290

Family With Sequence Similarity 20, Member C

See related diseases
at

MalaCards

(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, 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

(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:

NC_000007.14 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 plasmid: FAM20C 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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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	LSBio Antibodies in human, mouse, rat for FAM20C

FAM20C Assay Products:

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	Cloud-Clone Corp. ELISAs for FAM20C Cloud-Clone Corp. CLIAs 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

FAM20C for domains About GeneDecksing

(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0004674	protein serine/threonine kinase activity	IDA	--
GO:0005509	calcium ion binding	IEA	--

FAM20C for ontologies About GeneDecksing

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

FAM20C for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Fam20c^tm1Lex 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 Products:		OriGene RNAi products in human, mouse, rat for FAM20C
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Gene Editing
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Clone Products:		OriGene clones in human, mouse for FAM20C (see all 8) 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)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM20C
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM20C

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FAM20C
		Browse ESI BIO Cell Lines and PureStem Progenitors for FAM20C

In Situ Assay
Products:

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:

Compartment	Confidence
endoplasmic reticulum	2
extracellular	2
golgi apparatus	2
mitochondrion	2
cytosol	1
nucleus	1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	--
GO:0005794	Golgi apparatus	IDA	--
GO:0070062	extracellular vesicular exosome	IDA	19056867

FAM20C for ontologies About GeneDecksing

(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

8 Interacting proteins for FAM20C (Q8IXL6^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see top 5)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMN1	Q16637²^,³	MINT-8271135 I2D: score=2
SMN2	Q16637²^,³	MINT-8271135 I2D: score=2
FAM118B	Q9BPY3²^,³	MINT-8255079 I2D: score=2
PFDN1	O60925²^,³	MINT-8265842 I2D: score=2
SUV39H2	Q9H5I1²^,³	MINT-8272465 I2D: score=2
TAF1D	Q9H5J8²^,³	MINT-8272597 I2D: score=2
TK1	P04183²^,³	MINT-8273411 I2D: score=2
TSC22D1	Q15714²^,³	MINT-8275358 I2D: score=2

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

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

FAM20C for ontologies About GeneDecksing

(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

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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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

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		GenScript: all cDNA clones in your preferred vector: FAM20C (NM_020223)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM20C
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Primer Products:		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

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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

Custom PCR Arrays for FAM20C

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		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 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 Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fam20c^{1 , 5}	family with sequence similarity 20, member C^{1, 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	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

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

FAM20C for paralogs About GeneDecksing

(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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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_037532⁴		Raine syndrome (RNS)⁴	--	see VAR_037532	2	L R	mis⁴		0	--	--	--	--
VAR_037533⁴		Raine syndrome (RNS)⁴	--	see VAR_037533	2	R W	mis⁴		0	--	--	--	--
VAR_037531⁴		Raine syndrome (RNS)⁴	--	see VAR_037531	2	G R	mis⁴		0	--	--	--	--
VAR_037530⁴		Raine syndrome (RNS)⁴	--	see VAR_037530	2	G E	mis⁴		0	--	--	--	--
rs112890880^1,2	C,F	--	181212(+)	`GGGGGG/AGCCAG`	1	--	us2k¹		1		CSA	2
rs183776758^1,2		--	191017(+)	`CCACAA/CCCGGG`	1	--	us2k¹		0	--	--	--	--
rs189400109^1,2		--	191060(+)	`GTGACA/CCTGTC`	1	--	us2k¹		0	--	--	--	--
rs199538956^1,2	C	--	191087(+)	`GTCCAC/TGTGAG`	1	--	us2k¹		0	--	--	--	--
rs141549440^1,2		--	191096(+)	`AGTGGA/GAGGAA`	1	--	us2k¹		0	--	--	--	--
rs150724227^1,2	C	--	191132(+)	`GTGAAA/GCTGTC`	1	--	us2k¹		0	--	--	--	--

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 ID	Type	Subtype	PubMed ID
esv2656552	CNV	Deletion	23128226
esv1607109	CNV	Deletion	17803354
esv1274787	CNV	Deletion	17803354
esv2436771	CNV	Deletion	19546169
esv1554494	CNV	Deletion	17803354
esv2668014	CNV	Deletion	23128226
esv2659263	CNV	Deletion	23128226
esv2248874	CNV	Deletion	18987734
esv1714082	CNV	Deletion	17803354
esv988948	CNV	Deletion	20482838

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, Conferences by KenesGroup, 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

9 diseases for FAM20C:
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raine syndrome hcl-v osteosclerosis craniosynostosis

keratitis microcephaly diarrhea multiple myeloma

myeloma

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

(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)

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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)
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)
Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. (PubMed id 22582013)^{1, 2} Tagliabracci V.S.... Dixon J.E. (Science 2012)
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (PubMed id 20643727)^{1, 4} Wilkie A.O....Wall S.A. (Pediatrics 2010)
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)
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)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (Science 2003)
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)
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)
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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		AND	OR
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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Name	Description
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.)

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Patent Information for FAM20C gene:
Search GeneIP for patents involving FAM20C

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FAM20C Gene

Family With Sequence Similarity 20, Member C

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FAM20C Gene

Family With Sequence Similarity 20, Member C

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