ABCA12 (ATP binding cassette subfamily A member 12)

2008-01-01  

Identity

HGNC
ABCA12
LOCATION
2q35
LOCUSID
26154
ALIAS
ARCI4A,ARCI4B,ICR2B,LI2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26154
MIM: 607800
HGNC: 14637
Ensembl: ENSG00000144452

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144452ENST00000272895Q86UK0
ENSG00000144452ENST00000389661Q86UK0
ENSG00000144452ENST00000412081E9PBK1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

References

Pubmed IDYearTitleCitations
377528652024Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.0
380850352024Novel variants in ABCA12 cause erythrokeratodermia variabilis.0
385403472024Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.1
385761052024Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.0
377528652024Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.0
380850352024Novel variants in ABCA12 cause erythrokeratodermia variabilis.0
385403472024Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.1
385761052024Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.0
369809892023Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.3
376027152023Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.0
377622652023Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).1
369809892023Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.3
376027152023Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.0
377622652023Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).1
359640512022Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.6

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-(atp-binding-cassette-subfamily-a-member-12)