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Aliases for FAM20A Gene

Aliases for FAM20A Gene

  • Family With Sequence Similarity 20, Member A 2 3
  • AIGFS 3 6
  • Protein FAM20A 3
  • FP2747 3
  • AI1G 3

External Ids for FAM20A Gene

Previous GeneCards Identifiers for FAM20A Gene

  • GC17M066995
  • GC17M067130
  • GC17M064044
  • GC17M066533
  • GC17M061916

Summaries for FAM20A Gene

Entrez Gene Summary for FAM20A Gene

  • This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for FAM20A Gene

FAM20A (Family With Sequence Similarity 20, Member A) is a Protein Coding gene. Diseases associated with FAM20A include amelogenesis imperfecta, type ig and amelogenesis imperfecta hypoplastic type, ig. An important paralog of this gene is FAM20B.

Gene Wiki entry for FAM20A Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM20A Gene

Genomics for FAM20A Gene

Regulatory Elements for FAM20A Gene

Epigenetics Products

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

Genomic Location for FAM20A Gene

68,535,113 bp from pter
68,601,389 bp from pter
66,277 bases
Minus strand

Genomic View for FAM20A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM20A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM20A Gene

Proteins for FAM20A Gene

  • Protein details for FAM20A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM20A
    Protein Accession:
    Secondary Accessions:
    • B2RN47
    • B2RN49
    • Q9UF95

    Protein attributes for FAM20A Gene

    541 amino acids
    Molecular mass:
    61417 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM20A Gene

Proteomics data for FAM20A Gene at MOPED

Post-translational modifications for FAM20A Gene

Other Protein References for FAM20A Gene

Antibody Products

No data available for DME Specific Peptides for FAM20A Gene

Domains for FAM20A Gene

Protein Domains for FAM20A Gene

Suggested Antigen Peptide Sequences for FAM20A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM20 family.
  • Belongs to the FAM20 family.
genes like me logo Genes that share domains with FAM20A: view

No data available for Gene Families for FAM20A Gene

Function for FAM20A Gene

genes like me logo Genes that share phenotypes with FAM20A: view

Animal Models for FAM20A Gene

MGI Knock Outs for FAM20A:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM20A

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for FAM20A Gene

Localization for FAM20A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM20A Gene

Secreted. Golgi apparatus.

Subcellular locations from

Jensen Localization Image for FAM20A Gene COMPARTMENTS Subcellular localization image for FAM20A gene
Compartment Confidence
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAM20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell ISS --
GO:0005794 Golgi apparatus IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with FAM20A: view

Pathways for FAM20A Gene

SuperPathways for FAM20A Gene

No Data Available

Interacting Proteins for FAM20A Gene

Gene Ontology (GO) - Biological Process for FAM20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044691 tooth eruption IMP 21990045
GO:0055074 calcium ion homeostasis IMP 23434854
GO:0070166 enamel mineralization IMP 21549343
genes like me logo Genes that share ontologies with FAM20A: view

No data available for Pathways by source for FAM20A Gene

Transcripts for FAM20A Gene

Unigene Clusters for FAM20A Gene

Family with sequence similarity 20, member A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM20A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM20A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - -

Relevant External Links for FAM20A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM20A Gene

mRNA expression in normal human tissues for FAM20A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM20A Gene

This gene is overexpressed in Liver (11.0) and Cervix - Endocervix (4.7).

Protein differential expression in normal tissues for FAM20A Gene

This gene is overexpressed in Heart (42.1) and Salivary gland (26.9).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for FAM20A Gene

SOURCE GeneReport for Unigene cluster for FAM20A Gene Hs.268874

mRNA Expression by UniProt/SwissProt for FAM20A Gene

Tissue specificity: Highly expressed in lung and liver. Intermediate levels in thymus and ovary.
genes like me logo Genes that share expressions with FAM20A: view

Expression partners for FAM20A Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for FAM20A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM20A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FAM20A 35
  • 84.33 (n)
  • 85.29 (a)
FAM20A 36
  • 86 (a)
(Canis familiaris)
Mammalia FAM20A 35
  • 89.33 (n)
  • 92.31 (a)
FAM20A 36
  • 92 (a)
(Mus musculus)
Mammalia Fam20a 35
  • 85.39 (n)
  • 85.52 (a)
Fam20a 16
Fam20a 36
  • 86 (a)
(Pan troglodytes)
Mammalia FAM20A 35
  • 99.09 (n)
  • 99.5 (a)
FAM20A 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Fam20a 35
  • 86.1 (n)
  • 85.14 (a)
(Monodelphis domestica)
Mammalia FAM20A 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia FAM20A 36
  • 86 (a)
(Gallus gallus)
Aves FAM20A 35
  • 77.12 (n)
  • 79.17 (a)
FAM20A 36
  • 74 (a)
(Anolis carolinensis)
Reptilia FAM20A 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam20a 35
  • 62.51 (n)
  • 61.96 (a)
(Danio rerio)
Actinopterygii Dr.22208 35
fam20a 35
  • 65.77 (n)
  • 65.32 (a)
fam20a 36
  • 58 (a)
FAM20A (2 of 2) 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31145 36
  • 19 (a)
(Caenorhabditis elegans)
Secernentea H03A11.1 36
  • 31 (a)
Species with no ortholog for FAM20A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAM20A Gene

Gene Tree for FAM20A (if available)
Gene Tree for FAM20A (if available)

Paralogs for FAM20A Gene

Paralogs for FAM20A Gene

(4) SIMAP similar genes for FAM20A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FAM20A: view

Variants for FAM20A Gene

Sequence variations from dbSNP and Humsavar for FAM20A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs12603503 -- 68,566,569(+) CAATG(C/G)TACAG intron-variant
rs12601033 -- 68,554,083(+) atata(C/T)acata intron-variant
rs12453524 -- 68,578,976(+) cgcca(C/T)tgcac intron-variant
rs12452866 -- 68,578,024(+) ACACA(C/G/T)GCACA intron-variant
rs12325982 -- 68,599,194(+) CAAGA(A/G)AGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM20A Gene

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

Relevant External Links for FAM20A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM20A Gene

Disorders for FAM20A Gene

(1) OMIM Diseases for FAM20A Gene (611062)


  • Amelogenesis imperfecta 1G (AI1G) [MIM:204690]: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. {ECO:0000269 PubMed:21549343, ECO:0000269 PubMed:21990045, ECO:0000269 PubMed:23434854, ECO:0000269 PubMed:23468644, ECO:0000269 PubMed:24196488}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FAM20A Gene

Relevant External Links for FAM20A

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with FAM20A: view

No data available for Novoseek inferred disease relationships and Genatlas for FAM20A Gene

Publications for FAM20A Gene

  1. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PMID: 15676076) Nalbant D. … Williams S.C. (BMC Genomics 2005) 3 4 23
  2. FAM20A mutations associated with enamel renal syndrome. (PMID: 24196488) Wang S.K. … Hu J.C. (J. Dent. Res. 2014) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. FAM20A mutations can cause enamel-renal syndrome (ERS). (PMID: 23468644) Wang S.K. … Hu J.C. (PLoS Genet. 2013) 3 4

Products for FAM20A Gene

Sources for FAM20A Gene

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