Identity
HGNC
LOCATION
5q35.1
LOCUSID
ALIAS
C5orf41,LRF
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: 153222
MIM: 617109
HGNC: 24050
Ensembl: ENSG00000164463
Variants:
dbSNP: 153222
ClinVar: 153222
TCGA: ENSG00000164463
COSMIC: CREBRF
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164463 | ENST00000296953 | Q8IUR6 |
| ENSG00000164463 | ENST00000520420 | Q8IUR6 |
| ENSG00000164463 | ENST00000522692 | Q8IUR6 |
| ENSG00000164463 | ENST00000523161 | E5RI19 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38627436 | 2024 | The impact of CREBRF rs373863828 Pacific-variant on infant body composition. | 0 |
| 38627436 | 2024 | The impact of CREBRF rs373863828 Pacific-variant on infant body composition. | 0 |
| 36352773 | 2023 | Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries. | 0 |
| 37610607 | 2023 | miR-181d-5p, which is upregulated in fetal growth restriction placentas, inhibits trophoblast fusion via CREBRF. | 0 |
| 36352773 | 2023 | Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries. | 0 |
| 37610607 | 2023 | miR-181d-5p, which is upregulated in fetal growth restriction placentas, inhibits trophoblast fusion via CREBRF. | 0 |
| 35144939 | 2022 | CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand. | 4 |
| 35218947 | 2022 | The minor allele of the CREBRF rs373863828 p.R457Q coding variant is associated with reduced levels of myostatin in males: Implications for body composition. | 4 |
| 35606300 | 2022 | The missense variant, rs373863828, in CREBRF plays a role in longitudinal changes in body mass index in Samoans. | 2 |
| 36284436 | 2022 | The protective effect of rs373863828 on type 2 diabetes does not operate through a body composition pathway in adult Samoans. | 2 |
| 35144939 | 2022 | CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand. | 4 |
| 35218947 | 2022 | The minor allele of the CREBRF rs373863828 p.R457Q coding variant is associated with reduced levels of myostatin in males: Implications for body composition. | 4 |
| 35606300 | 2022 | The missense variant, rs373863828, in CREBRF plays a role in longitudinal changes in body mass index in Samoans. | 2 |
| 36284436 | 2022 | The protective effect of rs373863828 on type 2 diabetes does not operate through a body composition pathway in adult Samoans. | 2 |
| 32884101 | 2021 | A missense variant in CREBRF, rs373863828, is associated with fat-free mass, not fat mass in Samoan infants. | 11 |
Citation
Dessen P
CREBRF (CREB3 regulatory factor)
Atlas Genet Cytogenet Oncol Haematol. 2017-05-01
Online version: http://atlasgeneticsoncology.org/gene/56901/crebrf-(creb3-regulatory-factor)
