FAM20A Gene

Aliases
for FAM20A gene

(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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Previous GC identifers: GC17M066995 GC17M067130 GC17M064044 GC17M061916

Summaries
for FAM20A gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for FAM20A 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_000017.10  NT_010783.16  NC_018928.2  

SwitchGear Promoter luciferase reporter plasmid: FAM20A promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM20A

FAM20A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M066533:  view genomic region     (about GC identifiers)

Proteins
for FAM20A gene

(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., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for FAM20A: NX_Q96MK3

Explore proteomics data for FAM20A at MOPED

Post-translational modifications: 

FAM20A Human Recombinant Protein Products:

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	antibodies-online peptides for FAM20A

FAM20A Antibody Products:

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FAM20A Assay Products:

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	antibodies-online kits for FAM20A (6 products)

Domains /
Families
for FAM20A gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q96MK3

Find genes that share domains with FAM20A           About GenesLikeMe

Function
for FAM20A gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Sets of similar genes according to GenesLikeMe)
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Localization
for FAM20A gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
extracellular	2
endoplasmic reticulum	1

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Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for FAM20A gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for FAM20A gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for FAM20A 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,
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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Expression
for FAM20A 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 GenesLikeMe, 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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FAM20A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Bone (Muscoskeletal System)    fully expand to see all 2 entries
Zeugopod Epiphyseal End
Neural Crest (Gastrulation Derivatives)
PureStem MEL2, NCr-fac Progenitor

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for FAM20A
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM20A
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		QuantiFast Probe-based Assays in human, mouse, rat FAM20A

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM20A

Orthologs
for FAM20A 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)
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Paralogs
for FAM20A gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for FAM20A gene

FAM20B²  FAM20C²  

4 SIMAP similar genes for FAM20A using alignment to 4 protein entries:     FA20A_HUMAN (see all proteins):

FP2747    Fam20A    FAM20C    FAM20B

Find genes that share paralogs with FAM20A           About GenesLikeMe

Genomic Variants
for FAM20A 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), 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 FAM20A (see all 1513)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1402717761,2	C	--	61926587(+)	TACAG-/CACAAC	3	--	int1		0	--	--	--	--
rs1488895441,2	C	--	61929898(+)	CAATA-/TTGTTGTG	3	--	int1		0	--	--	--	--
rs2022147871,2	C	--	61935909(+)	CACAC-/ATATGCA	3	--	int1		0	--	--	--	--
rs355761571,2	C	--	61950673(+)	TTATC-/TCTTCA	2	--	int1		0	--	--	--	--
rs713558911,2	C	--	61953883(+)	TATAT-/A/AT    ATATATATATAT	4	--	int1 cds1		1		NA	2
rs1893687921,2		--	61953894(+)	ATATAC/TATATA	2	--	int1		0	--	--	--	--
rs608402241,2	C	--	61961832(+)	ATAGT-/ATTGCA	2	--	int1		0	--	--	--	--
rs1452620851,2	C	--	61961834(+)	AGTTT-/AA/TAA         GCATT	4	--	int1 cds1		0	--	--	--	--
rs567195341,2	C	--	61961836(+)	GTTTG-/AA/A     AA/TAACATTT	6	--	int1 cds1		0	--	--	--	--
rs801759221,2		--	61972745(+)	CCTGGA/C/GCCAAT	2	--	int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM20A (66531254 - 66597530 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for FAM20A:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2716148	CNV	Deletion	23290073
esv2661984	CNV	Deletion	23128226
esv2677068	CNV	Deletion	23128226
nsv507856	CNV	Insertion	20534489
nsv522126	CNV	Loss	19592680
nsv510723	CNV	Loss	20534489
nsv833524	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): FAM20A

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing FAM20A

DNA2.0 Custom Variant and Variant Library Synthesis for FAM20A

Disorders / Diseases
for FAM20A 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, Sets of similar genes according to GenesLikeMe)
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Publications
for FAM20A 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)
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1. 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)
2. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. (PubMed id 21990045)^{1, 2} Cho S.H....Kim J.W. (Hum. Mutat. 2012)
3. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. (PubMed id 21549343)^{1, 2} O'Sullivan J.... Dixon M.J. (Am. J. Hum. Genet. 2011)
4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (Genome Res. 2003)
6. FAM20A mutations associated with enamel renal syndrome. (PubMed id 24196488)¹ Wang S.K....Hu J.C. (J. Dent. Res. 2014)
7. FAM20A mutations can cause enamel-renal syndrome (ERS). (PubMed id 23468644)¹ Wang S.K....Hu J.C. (PLoS Genet. 2013)
8. Altered gene expression pattern in peripheral blood mononuclear cells in patients with acute myocardial infarction. (PubMed id 23185530)¹ Kiliszek M....Opolski G. (PLoS ONE 2012)
9. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. (PubMed id 23434854)¹ Jaureguiberry G....Kleta R. (Nephron Physiol 2012)
10. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PubMed id 19199708)¹ Gonzalez-Begne M....Yates J.R. (J. Proteome Res. 2009)

External Searches for FAM20A gene

Genome Databases showing FAM20A gene

Other Databases showing FAM20A gene

Specialized Databases showing FAM20A gene

Products
for FAM20A gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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