ABCA5 (ATP binding cassette subfamily A member 5)

2007-07-01  

Identity

HGNC
LOCATION
17q24.3
LOCUSID
ALIAS
ABC13,EST90625,HTC3
FUSION GENES

Other Information

Locus ID:

NCBI: 23461
MIM: 612503
HGNC: 35
Ensembl: ENSG00000154265

Variants:

dbSNP: 23461
ClinVar: 23461
TCGA: ENSG00000154265
COSMIC: ABCA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154265ENST00000392676Q8WWZ7
ENSG00000154265ENST00000586811K7EJW6
ENSG00000154265ENST00000586995Q6N017
ENSG00000154265ENST00000587607A0A075B778
ENSG00000154265ENST00000588665K7EQ50
ENSG00000154265ENST00000588877Q8WWZ7
ENSG00000154265ENST00000589975K7ENF9
ENSG00000154265ENST00000591234K7EKS9
ENSG00000154265ENST00000592568K7EMV2
ENSG00000154265ENST00000593153K7EPM3
ENSG00000154265ENST00000593253A0A075B778

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
228702172012Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.26
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
175411692007Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor.12
196251762009PTEN identified as important risk factor of chronic obstructive pulmonary disease.12
204876902010ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma.10
248318152014Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.10
172898872007The ABCA5 protein: a urine diagnostic marker for prostatic intraepithelial neoplasia.6
125040892003Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant.5
191701962009Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.5

Citation

Dessen P

ABCA5 (ATP binding cassette subfamily A member 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47579/abca5