ABCA4 (ATP binding cassette subfamily A member 4)

2014-06-01  

Identity

HGNC
ABCA4
LOCATION
1p22.1
LOCUSID
24
ALIAS
ABC10,ABCR,ARMD2,CORD3,FFM,RMP,RP19,STGD,STGD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 24
MIM: 601691
HGNC: 34
Ensembl: ENSG00000198691

Variants:

dbSNP: 24
ClinVar: 24
TCGA: ENSG00000198691
COSMIC: ABCA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198691ENST00000370225P78363
ENSG00000198691ENST00000536513F6TT59
ENSG00000198691ENST00000649773A0A3B3IRV8

Expression (GTEx)

0
1
2
3
4
5
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

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
204364692010A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.200
204364692010A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.200
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190744582009ABCA4 disease progression and a proposed strategy for gene therapy.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
113287252001An analysis of allelic variation in the ABCA4 gene.61
219115832011Analysis of the ABCA4 gene by next-generation sequencing.58
239186622013Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.55
240979812013Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.53
207117102010The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.50

Citation

Dessen P

ABCA4 (ATP binding cassette subfamily A member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53940/abca4