FAM20A Gene (Protein Coding)

FAM20A Golgi Associated Secretory Pathway Pseudokinase

GC17M068535
GIFtS:
39
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] See more...

Aliases for FAM20A Gene

Aliases for FAM20A Gene

  • FAM20A Golgi Associated Secretory Pathway Pseudokinase 2 3 5
  • Family With Sequence Similarity 20, Member A 2 3
  • Pseudokinase FAM20A 3 4
  • FAM20A, Golgi Associated Secretory Pathway Pseudokinase 2
  • Protein FAM20A 3
  • FP2747 3
  • AIGFS 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 (FAM20A Golgi Associated Secretory Pathway Pseudokinase) is a Protein Coding gene. Diseases associated with FAM20A include Amelogenesis Imperfecta, Type Ig and Amelogenesis Imperfecta. An important paralog of this gene is FAM20C.

UniProtKB/Swiss-Prot Summary for FAM20A Gene

  • Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals.

Gene Wiki entry for FAM20A Gene

Additional gene information for FAM20A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM20A Gene

Genomics for FAM20A Gene

GeneHancer (GH) Regulatory Elements for FAM20A Gene

Promoters and enhancers for FAM20A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J068598 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 515.7 +0.7 742 6.9 NCOR1 CTCF ZIC2 ZBTB10 ZBTB26 ZBTB25 TGIF2 ZBTB7A TEAD1 TBX3 FAM20A LINC01482
GH17J068566 Enhancer 0.8 Ensembl ENCODE 31.5 +36.2 36167 6.8 ZFX FOXA2 CEBPB JUND FOXA1 HOMEZ SSRP1 RAD21 RXRA HNF4A FAM20A LINC01482 ENSG00000267461 LOC105371873
GH17J068579 Enhancer 1.1 FANTOM5 ENCODE 22.5 +21.1 21081 2.1 POLR2G USF1 NCOR1 TCF7 ZBTB25 TGIF2 ZBTB7A SKI TEAD1 ZBTB26 FAM20A ENSG00000267731 ENSG00000265100 LINC01482 ENSG00000267461 LOC105371873
GH17J068571 Enhancer 0.8 Ensembl 32.8 +28.7 28666 2.6 BCLAF1 GATAD2B CTBP1 HES1 ZNF316 MAFF ZNF207 MLLT1 MAFK NONO FAM20A ENSG00000267731 RDM1P3 BPTF LINC01482 LOC105371873 ENSG00000267461
GH17J068584 Enhancer 1 Ensembl ENCODE 19.4 +16.1 16115 1.7 NCOR1 TCF7 TGIF2 SKI TEAD1 ZKSCAN8 SIN3A NR2F2 FOXA2 SAP130 FAM20A LINC01482 LOC105371873
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM20A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM20A

Top Transcription factor binding sites by QIAGEN in the FAM20A gene promoter:
  • aMEF-2
  • AML1a
  • AREB6
  • Arnt
  • IRF-1
  • MEF-2A
  • Msx-1
  • NF-1
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for FAM20A Gene

Genomic Locations for FAM20A Gene
chr17:68,534,561-68,601,367
(GRCh38/hg38)
Size:
66,807 bases
Orientation:
Minus strand
chr17:66,531,254-66,597,530
(GRCh37/hg19)
Size:
66,277 bases
Orientation:
Minus strand

Genomic View for FAM20A Gene

Genes around FAM20A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM20A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM20A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAM20A Gene

Proteins for FAM20A Gene

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

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

    Protein attributes for FAM20A Gene

    Size:
    541 amino acids
    Molecular mass:
    61417 Da
    Quaternary structure:
    • Interacts with FAM20C; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C.

    Three dimensional structures from OCA and Proteopedia for FAM20A Gene

neXtProt entry for FAM20A Gene

Protein Expression for FAM20A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAM20A Gene

Other Protein References for FAM20A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM20A Gene

Domains & Families for FAM20A Gene

Gene Families for FAM20A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FAM20A Gene

Blocks:
  • Protein of unknown function DUF1193
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM20A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM20A (FA20A_HUMAN)
  • FAM20A protein (Q8IYA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MK3

UniProtKB/Swiss-Prot:

FA20A_HUMAN :
  • Belongs to the FAM20 family.
Family:
  • Belongs to the FAM20 family.
genes like me logo Genes that share domains with FAM20A: view

Function for FAM20A Gene

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Molecular function for FAM20A Gene

UniProtKB/Swiss-Prot Function:
Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals.

Phenotypes From GWAS Catalog for FAM20A Gene

Gene Ontology (GO) - Molecular Function for FAM20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 NOT protein serine/threonine kinase activity IDA 25789606
GO:0005515 protein binding IPI 25789606
GO:0016773 NOT phosphotransferase activity, alcohol group as acceptor IBA 21873635
GO:0043539 protein serine/threonine kinase activator activity IDA,IBA 25789606
genes like me logo Genes that share ontologies with FAM20A: view
genes like me logo Genes that share phenotypes with FAM20A: view

Human Phenotype Ontology for FAM20A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM20A Gene

MGI Knock Outs for FAM20A:

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM20A

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , 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. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM20A gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 1
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FAM20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 22582013
GO:0005623 cell ISS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 colocalizes_with Golgi apparatus IDA,IBA 22582013
genes like me logo Genes that share ontologies with FAM20A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM20A Gene

Pathways & Interactions for FAM20A Gene

PathCards logo

SuperPathways for FAM20A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0006468 NOT protein phosphorylation IBA,IEA 21873635
GO:0009617 response to bacterium IEA --
GO:0031214 biomineral tissue development IMP 25789606
GO:0044691 tooth eruption IMP 21990045
genes like me logo Genes that share ontologies with FAM20A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM20A Gene

Drugs & Compounds for FAM20A Gene

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  1. Drug
No Compound Related Data Available

Transcripts for FAM20A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FAM20A Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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: - -
SP2:

Relevant External Links for FAM20A Gene

GeneLoc Exon Structure for
FAM20A

Expression for FAM20A Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM20A Gene

mRNA expression in normal human tissues for FAM20A Gene
mRNA expression by GTEx for FAM20A GenemRNA expression by BioGPS 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 (x11.0) and Cervix - Endocervix (x4.7).

Protein differential expression in normal tissues from HIPED for FAM20A Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM20A Gene



Protein tissue co-expression partners for FAM20A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM20A

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.

Evidence on tissue expression from TISSUES for FAM20A Gene

  • Liver(4.3)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM20A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • pituitary gland
  • skull
  • tooth
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns 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 31 30
  • 99.09 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FAM20A 31 30
  • 89.33 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fam20a 30
  • 86.1 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FAM20A 31
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fam20a 17 31 30
  • 85.39 (n)
cow
(Bos Taurus)
 Mammalia FAM20A 31 30
  • 84.33 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia FAM20A 31
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FAM20A 31 30
  • 77.12 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FAM20A 31
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fam20a 30
  • 62.51 (n)
zebrafish
(Danio rerio)
 Actinopterygii FAM20A (2 of 2) 31
  • 70 (a)
 OneToMany
fam20a 31 30
  • 65.77 (n)
 OneToMany
Dr.22208 30
fruit fly
(Drosophila melanogaster)
 Insecta CG31145 31
  • 19 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea H03A11.1 31
  • 31 (a)
 OneToMany
Species where no ortholog for FAM20A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM20A: view image

Paralogs for FAM20A Gene

Paralogs for FAM20A Gene

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

  • FA20A_HUMAN
  • K7EIV7_HUMAN
  • K7EQL5_HUMAN
  • Q8IYA5_HUMAN
genes like me logo Genes that share paralogs with FAM20A: view

Variants for FAM20A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM20A Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
647384 Uncertain Significance: Carney complex, type 1 68,530,382(-) G/T MISSENSE_VARIANT,INTRON_VARIANT
658107 Uncertain Significance: Carney complex, type 1 68,530,365(-) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
659549 Uncertain Significance: Carney complex, type 1 68,530,334(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
662737 Uncertain Significance: Carney complex, type 1 68,530,384(-) C/G MISSENSE_VARIANT,INTRON_VARIANT
rs1001156045 Likely Benign: not specified 68,530,437(-) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FAM20A Gene

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

Variant ID Type Subtype PubMed ID
esv2661984 CNV deletion 23128226
esv2677068 CNV deletion 23128226
esv2716148 CNV deletion 23290073
esv3554698 CNV deletion 23714750
esv3641113 CNV loss 21293372
esv3641114 CNV loss 21293372
nsv1127594 CNV deletion 24896259
nsv476931 CNV novel sequence insertion 20440878
nsv477917 CNV novel sequence insertion 20440878
nsv507856 OTHER sequence alteration 20534489
nsv510723 CNV deletion 20534489
nsv522126 CNV loss 19592680
nsv833524 CNV gain 17160897

Variation tolerance for FAM20A Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.13; 92.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM20A Gene

Human Gene Mutation Database (HGMD)
FAM20A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM20A

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

Disorders for FAM20A Gene

MalaCards: The human disease database

(18) MalaCards diseases for FAM20A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type ig
  • ai1g
amelogenesis imperfecta
  • ai
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
nephrocalcinosis
  • hypercalcemic nephropathy
carney complex, type 1
  • cnc1
- elite association - COSMIC cancer census association via MalaCards

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:23697977, ECO:0000269 PubMed:24196488, ECO:0000269 PubMed:24259279, ECO:0000269 PubMed:24756937, ECO:0000269 PubMed:25636655, ECO:0000269 PubMed:25789606, ECO:0000269 PubMed:25827751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FAM20A

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM20A: view

No data available for 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 SC (BMC genomics 2005) 3 4 23 54
  2. A secretory kinase complex regulates extracellular protein phosphorylation. (PMID: 25789606) Cui J … Dixon JE (eLife 2015) 3 4 54
  3. FAM20A mutations associated with enamel renal syndrome. (PMID: 24196488) Wang SK … Hu JC (Journal of dental research 2014) 3 4 54
  4. Enamel-renal-gingival syndrome and FAM20A mutations. (PMID: 24259279) Kantaputra PN … Iamaroon A (American journal of medical genetics. Part A 2014) 3 4 54
  5. FAM20A mutations can cause enamel-renal syndrome (ERS). (PMID: 23468644) Wang SK … Hu JC (PLoS genetics 2013) 3 4 54

ExternalLinks

View latest publications for FAM20A gene in Mastermind

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