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: 286077
MIM: 611927
HGNC: 24797
Ensembl: ENSG00000180921
Variants:
dbSNP: 286077
ClinVar: 286077
TCGA: ENSG00000180921
COSMIC: FAM83H
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000180921 | ENST00000388913 | Q6ZRV2 |
| ENSG00000180921 | ENST00000395103 | J3KPS2 |
| ENSG00000180921 | ENST00000650760 | A0A494C1T9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36318336 | 2023 | Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins. | 1 |
| 37615776 | 2023 | Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta. | 0 |
| 37659852 | 2023 | [Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation]. | 0 |
| 36318336 | 2023 | Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins. | 1 |
| 37615776 | 2023 | Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta. | 0 |
| 37659852 | 2023 | [Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation]. | 0 |
| 33486840 | 2022 | Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. | 1 |
| 35212465 | 2022 | A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance. | 2 |
| 35260044 | 2022 | Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis. | 3 |
| 36171592 | 2022 | LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to protect β-catenin from degradation. | 3 |
| 33486840 | 2022 | Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. | 1 |
| 35212465 | 2022 | A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance. | 2 |
| 35260044 | 2022 | Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis. | 3 |
| 36171592 | 2022 | LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to protect β-catenin from degradation. | 3 |
| 33009625 | 2021 | The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family. | 1 |
Citation
Dessen P
FAM83H (family with sequence similarity 83 member H)
Atlas Genet Cytogenet Oncol Haematol. 2014-07-01
Online version: http://atlasgeneticsoncology.org/gene/54078/deep-insight-explorer/new-content/
