Gene: ABCC9

Alternate names for this Gene: ABC37|ATFB12|CANTU|CMD1O|SUR2

Gene Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: ATP binding cassette subfamily C member 9

Type of Gene: protein-coding

rs1517284 in ABCC9 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs4148660 in ABCC9 gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs139975827 in ABCC9 gene and Birth Weight PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs387907209 in ABCC9 gene and CARDIOMYOPATHY, DILATED, 1O PMID 26871653 2017 De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

rs1057516044 in ABCC9 gene and Cantu syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 26621776 2015 Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

rs1024095026 in ABCC9 gene and Cardiomyopathies PMID 23103869 2012 Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.

rs1057516044 in ABCC9 gene and Congenital Epicanthus PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs11046205 in ABCC9 gene and Duration of sleep PMID 22105623 2013 We identified an intronic variant (rs11046205; P=3.99 × 10(-8)) in the ABCC9 gene that explains ≈5% of the variation in sleep duration.

rs4148660 in ABCC9 gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs1057516044 in ABCC9 gene and Hirsutism PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516044 in ABCC9 gene and Large head (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516044 in ABCC9 gene and Macrostomia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516044 in ABCC9 gene and Melanocortin 4 Receptor Deficiency PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516044 in ABCC9 gene and Nasal bridge wide PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516044 in ABCC9 gene and Patent ductus arteriosus PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1517284 in ABCC9 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1057516044 in ABCC9 gene and Tall stature PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.