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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

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 and gingival hyperplasia syndrome 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

Genomic Location for FAM20A Gene

Start:
68,535,113 bp from pter
End:
68,601,389 bp from pter
Size:
66,277 bases
Orientation:
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

Regulatory Elements for FAM20A Gene

Proteins for FAM20A Gene

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

    Protein Symbol:
    Q96MK3-FA20A_HUMAN
    Recommended name:
    Protein FAM20A
    Protein Accession:
    Q96MK3
    Secondary Accessions:
    • B2RN47
    • B2RN49
    • Q9UF95

    Protein attributes for FAM20A Gene

    Size:
    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

No data available for DME Specific Peptides for FAM20A Gene

Domains for FAM20A Gene

Protein Domains for FAM20A Gene

UniProtKB/Swiss-Prot:

FA20A_HUMAN
Family:
  • Belongs to the FAM20 family.:
    • Q96MK3
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:

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

COMPARTMENTS
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:

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: - -
SP2:

Relevant External Links for FAM20A Gene

GeneLoc Exon Structure for
FAM20A
ECgene alternative splicing isoforms for
FAM20A

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).

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

Q96MK3-FA20A_HUMAN
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

Orthologs for FAM20A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM20A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM20A 36
  • 99.09 (n)
  • 99.5 (a)
FAM20A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM20A 36
  • 84.33 (n)
  • 85.29 (a)
FAM20A 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM20A 36
  • 89.33 (n)
  • 92.31 (a)
FAM20A 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam20a 36
  • 85.39 (n)
  • 85.52 (a)
Fam20a 16
Fam20a 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM20A 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM20A 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam20a 36
  • 86.1 (n)
  • 85.14 (a)
chicken
(Gallus gallus)
Aves FAM20A 36
  • 77.12 (n)
  • 79.17 (a)
FAM20A 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM20A 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam20a 36
  • 62.51 (n)
  • 61.96 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.22208 36
fam20a 36
  • 65.77 (n)
  • 65.32 (a)
fam20a 37
  • 58 (a)
OneToMany
FAM20A (2 of 2) 37
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31145 37
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H03A11.1 37
  • 31 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FAM20A (if available)
TreeFam:
Gene Tree for FAM20A (if available)

Paralogs for FAM20A Gene

Paralogs for FAM20A Gene

Selected 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
rs728379 -- 68,561,318(-) ACATT(C/T)TATCT intron-variant
rs728380 -- 68,561,474(-) TTCCA(A/G)AAATA intron-variant
rs766304 -- 68,594,710(-) agatt(A/G)gcccc intron-variant
rs986099 -- 68,600,322(+) AGGAG(C/T)GAGTC utr-variant-5-prime, synonymous-codon, reference, nc-transcript-variant
rs1123261 -- 68,564,697(-) CACCT(C/G)CTAAG 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
FAM20A
Human Gene Mutation Database (HGMD)
FAM20A

Disorders for FAM20A Gene

(1) OMIM Diseases for FAM20A Gene (611062)

UniProtKB/Swiss-Prot

FA20A_HUMAN
  • 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)
FAM20A
genes like me logo Genes that share disorders with FAM20A: view

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. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. (PMID: 21549343) O'Sullivan J. … Dixon M.J. (Am. J. Hum. Genet. 2011) 3 4
  3. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. (PMID: 21990045) Cho S.H. … Kim J.W. (Hum. Mutat. 2012) 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for FAM20A Gene

Sources for FAM20A Gene

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