Identity
HGNC
LOCATION
Xq13.3
LOCUSID
ALIAS
ABC7,ASAT,Atm1p,EST140535
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: 22
MIM: 300135
HGNC: 48
Ensembl: ENSG00000131269
Variants:
dbSNP: 22
ClinVar: 22
TCGA: ENSG00000131269
COSMIC: ABCB7
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37142077 | 2023 | Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-β/Smad signaling. | 1 |
| 37142077 | 2023 | Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-β/Smad signaling. | 1 |
| 34861039 | 2022 | Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome. | 28 |
| 34861039 | 2022 | Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome. | 28 |
| 33157103 | 2021 | Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)(4) cluster exporter and the molecular mechanism of an E433K disease-causing mutation. | 9 |
| 33689857 | 2021 | Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein. | 0 |
| 33157103 | 2021 | Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)(4) cluster exporter and the molecular mechanism of an E433K disease-causing mutation. | 9 |
| 33689857 | 2021 | Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein. | 0 |
| 31772327 | 2020 | ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1α-driven NFκB signaling. | 10 |
| 31772327 | 2020 | ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1α-driven NFκB signaling. | 10 |
| 30765471 | 2019 | Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. | 30 |
| 30765471 | 2019 | Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. | 30 |
| 26242992 | 2016 | Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. | 16 |
| 27211273 | 2016 | Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes. | 67 |
| 26242992 | 2016 | Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. | 16 |
Citation
Dessen P
ABCB7 (ATP binding cassette subfamily B member 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60035/tumors-explorer/submit-meetings/
