ABCA12 (ATP binding cassette subfamily A member 12)

2008-01-01 Affiliation

Identity

HGNC

ABCA12

LOCATION

2q35

LOCUSID

26154

ALIAS

ARCI4A,ARCI4B,ICR2B,LI2

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: 26154
MIM: 607800
HGNC: 14637
Ensembl: ENSG00000144452

Variants:

dbSNP: 26154
ClinVar: 26154
TCGA: ENSG00000144452
COSMIC: ABCA12

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000144452	ENST00000272895	Q86UK0
ENSG00000144452	ENST00000389661	Q86UK0
ENSG00000144452	ENST00000412081	E9PBK1

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
ABC transporters in lipid homeostasis	REACTOME	R-HSA-1369062

References

Pubmed ID	Year	Title	Citations
16007253	2005	Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.	67
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
15756637	2005	Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.	58
12915478	2003	Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.	53
20672373	2010	ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.	25
21339420	2011	Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.	25
17611579	2008	PPAR and LXR activators regulate ABCA12 expression in human keratinocytes.	22
17927575	2007	Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.	22
16902423	2006	ABCA12 is the major harlequin ichthyosis gene.	17
19429679	2009	Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytes.	16

Citation

Dessen P

ABCA12 (ATP binding cassette subfamily A member 12)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49964/abca12