ABCC6 (ATP binding cassette subfamily C member 6)

ABCC6 (ATP binding cassette subfamily C member 6)

2003-08-01 Affiliation

Identity

HGNC

LOCATION

16p13.11

LOCUSID

ALIAS

ABC34,ARA,EST349056,GACI2,MLP1,MOAT-E,MOATE,MRP6,PXE,PXE1,URG7

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: 368
MIM: 603234
HGNC: 57
Ensembl: ENSG00000091262

Variants:

dbSNP: 368
ClinVar: 368
TCGA: ENSG00000091262
COSMIC: ABCC6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000091262	ENST00000205557	O95255
ENSG00000091262	ENST00000456970	O95255
ENSG00000091262	ENST00000575728	O95255
ENSG00000091262	ENST00000577103	I3L1Z6
ENSG00000091262	ENST00000622290	O95255
ENSG00000091262	ENST00000640696	A0A1W2PQX7

Expression (GTEx)

0

5

10

15

20

25

30

35

40

45

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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA445425	Prostatic Neoplasms	Disease	ClinicalAnnotation	associated		PD	20038957
PA449383	docetaxel	Chemical	ClinicalAnnotation	associated		PD	20038957
PA451644	thalidomide	Chemical	ClinicalAnnotation	associated		PD	20038957

References

Pubmed ID	Year	Title	Citations
38256207	2024	The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.	0
38256207	2024	The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.	0
36261288	2023	High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.	3
36261288	2023	High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.	3
33820832	2022	Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.	2
34597610	2022	Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.	0
36012482	2022	Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.	1
36030475	2022	ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.	1
36317459	2022	The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.	2
36497052	2022	CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.	5
33820832	2022	Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.	2
34597610	2022	Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.	0
36012482	2022	Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.	1
36030475	2022	ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.	1
36317459	2022	The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.	2

Citation

Dessen P

ABCC6 (ATP binding cassette subfamily C member 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/543/js/gene-fusions/js/web-card-gene.js