ABCD4 (ATP binding cassette subfamily D member 4)

2017-08-01  

Identity

HGNC
ABCD4
LOCATION
14q24.3
LOCUSID
5826
ALIAS
ABC41,EST352188,MAHCJ,P70R,P79R,PMP69,PXMP1L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5826
MIM: 603214
HGNC: 68
Ensembl: ENSG00000119688

Variants:

dbSNP: 5826
ClinVar: 5826
TCGA: ENSG00000119688
COSMIC: ABCD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119688ENST00000356924O14678
ENSG00000119688ENST00000356924A0A024R6B9
ENSG00000119688ENST00000460308E9PI46
ENSG00000119688ENST00000469672E9PPB6
ENSG00000119688ENST00000470637E9PI46
ENSG00000119688ENST00000474270H0YCY9
ENSG00000119688ENST00000481348H0YJ78
ENSG00000119688ENST00000481935E9PI46
ENSG00000119688ENST00000553486E9PI46
ENSG00000119688ENST00000553745E9PPB6
ENSG00000119688ENST00000553998H0YJX8
ENSG00000119688ENST00000554453G3V3W1
ENSG00000119688ENST00000555617E9PPB6
ENSG00000119688ENST00000555904H0YJ82
ENSG00000119688ENST00000556119E9PPB6
ENSG00000119688ENST00000556517H0YJ78
ENSG00000119688ENST00000556971H0YJL8
ENSG00000119688ENST00000557588G3V4U7

Expression (GTEx)

0
10
20
30
40
50
60
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
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
bone marrow

References

Pubmed IDYearTitleCitations
229228742012Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.50
158000132005Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.21
206616122011Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.8
255357912014Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.7
274569802016Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.7
285725112017Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.4
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.3
215142562011Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.2
306515812019Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.0

Citation

Dessen P

ABCD4 (ATP binding cassette subfamily D member 4)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56911/abcd4