Identity
HGNC
LOCATION
17q24.2
LOCUSID
ALIAS
AI1G,AIGFS,FP2747
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54757
MIM: 611062
HGNC: 23015
Ensembl: ENSG00000108950
Variants:
dbSNP: 54757
ClinVar: 54757
TCGA: ENSG00000108950
COSMIC: FAM20A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36650945 | 2024 | Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG. | 1 |
| 38499693 | 2024 | FAM20A is a golgi-localized Type II transmembrane protein. | 0 |
| 38546520 | 2024 | FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features. | 0 |
| 36650945 | 2024 | Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG. | 1 |
| 38499693 | 2024 | FAM20A is a golgi-localized Type II transmembrane protein. | 0 |
| 38546520 | 2024 | FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features. | 0 |
| 37159186 | 2023 | FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome. | 2 |
| 37159186 | 2023 | FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome. | 2 |
| 32246227 | 2020 | Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. | 9 |
| 32835847 | 2020 | Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. | 5 |
| 32246227 | 2020 | Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. | 9 |
| 32835847 | 2020 | Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. | 5 |
| 30120606 | 2019 | Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. | 3 |
| 30394349 | 2019 | Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. | 9 |
| 30120606 | 2019 | Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. | 3 |
Citation
Dessen P
FAM20A (FAM20A golgi associated secretory pathway pseudokinase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63128/fam20a-(fam20a-golgi-associated-secretory-pathway-pseudokinase)
