ABCB7 (ATP binding cassette subfamily B member 7)

2014-11-01 Affiliation

Identity

HGNC

ABCB7

LOCATION

Xq13.3

LOCUSID

ALIAS

ABC7,ASAT,Atm1p,EST140535

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000131269	ENST00000253577	O75027
ENSG00000131269	ENST00000253577	A0A0S2Z2Z3
ENSG00000131269	ENST00000339447	O75027
ENSG00000131269	ENST00000373394	O75027
ENSG00000131269	ENST00000526404	E9PNQ5
ENSG00000131269	ENST00000529949	B4DGL8
ENSG00000131269	ENST00000534524	E9PJR8
ENSG00000131269	ENST00000534570	A0A2R8YF35
ENSG00000131269	ENST00000620875	A0A087WW65
ENSG00000131269	ENST00000643632	A0A2R8Y3N2
ENSG00000131269	ENST00000644766	A0A2R8Y473
ENSG00000131269	ENST00000669573	A0A590UJS8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
ABC transporters	KEGG	ko02010
ABC transporters	KEGG	hsa02010
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556
Mitochondrial ABC transporters	REACTOME	R-HSA-1369007
Metabolism	REACTOME	R-HSA-1430728
Cytosolic iron-sulfur cluster assembly	REACTOME	R-HSA-2564830

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23070040	2013	The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.	28
18398482	2008	The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.	27
27211273	2016	Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.	23
22398176	2012	X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.	10
26242992	2016	Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.	9
21380928	2011	Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13).	6
19343046	2009	Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.	3

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/abcb7