ABCC9
- Known as:
- ABCC9
- Catalog number:
- 000916A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCC9
Related genes to: ABCC9
- Gene:
- ABCC9 NIH gene
- Name:
- ATP binding cassette subfamily C member 9
- Previous symbol:
- -
- Synonyms:
- SUR2, CMD1O
- Chromosome:
- 12p12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-26
- Date modifiied:
- 2019-04-23
Related products to: ABCC9
Related articles to: ABCC9
- The ABCC9 gene and its cognate protein SUR2 play important roles in neurovascular coupling and are implicated in hippocampal sclerosis of aging (HS-Aging). However, prior studies have not focused on human brain SUR2 expression or SUR2 in glial cells. Here we analyzed cell type-specific ABCC9/SUR2 expression patterns, and correlation with known genetic risk variants, using multiple data sets and a novel antiserum. Existing single-nucleus RNA sequencing data sets and new spatial transcriptomics data indicated that SUR2 transcripts were expressed primarily in human brain pericytes, astrocytes, smooth muscle cells, and endothelial cells. Evaluation of Sur2 expression in a sample of mice brains showed similar results except Sur2 was not detected in the mice astrocytes. In a SUR2-enriched subcluster of human astrocytes, the pattern of transcript expression suggested responsiveness to thyroid hormone signaling: SUR2-correlated gene products were enriched for thyroid hormone-sensitive transcripts and SLCO1C1, the astrocyte thyroid hormone importer, was the transcript with the strongest correlation with SUR2 expression. Cells in the SUR2 + astrocyte cluster tended to have been derived from individuals lacking severe Alzheimer's disease pathology. An ABCC9 single nucleotide variant (rs1914361, also a HS-Aging risk allele) was associated with increased SUR2 expression in astrocytes, but not other cell types. SUR2 mRNA splicing differed between cell types; astrocytes preferentially expressed the SUR2B variant. A novel SUR2 antiserum immunolabeled blood vessel walls and some astrocyte-morphology cells in human brain. Overall, human brain SUR2 expression was enriched among different cell types of the gliovascular unit. A SUR2-enriched, possibly-homeostatic astrocyte subcluster suggested connections to thyroid hormone signaling. - Source: PubMed
Publication date: 2026/09/19
Katsumata YurikoMorganti Josh MLiao AndrewZhou WeiZhong YuFister ShulingSaito KaiQiao QiArtiushin SergeiWei AngelaJian GaoNichols Colin GLee Tiffany LNiedowicz Dana MShahidehpour Ryan KNorris Christopher MRogers Colin BFardo David WCao JunyueNelson Peter T - Gastrointestinal (GI) cancers remain a leading cause of cancer-related mortality worldwide, with limited therapeutic options for advanced disease due to tumor heterogeneity, metastasis, cancer stemness, and acquired drug resistance. Cyclin-dependent kinases 7 and 9 (CDK7/9) are key regulators of transcription and cell-cycle progression, and their aberrant activation sustains oncogenic transcriptional programs. GNE-3511 is a dual CDK7/9 inhibitor with favorable pharmacokinetics, making it a promising therapeutic candidate for cancer treatment. The aim of the study is to investigate the anticancer efficacy and molecular mechanisms of GNE-3511 in gastrointestinal cancer models. Anticancer activity was evaluated in colorectal (HCT116), hepatocellular (HepG2), gastric (NCI-N87), and pancreatic (PanC1) cancer cells using cell viability, cell-cycle, apoptosis, migration, sphere formation, cancer stem cell, and doxorubicin accumulation assays. Expression of genes and proteins associated with apoptosis, epithelial-mesenchymal transition (EMT), stemness, multidrug resistance, and CDK7/9 signaling was analyzed by RT-qPCR and immunoblotting. Therapeutic efficacy was validated in an HCT116 xenograft model, with molecular analyses confirming the underlying anticancer mechanisms. GNE-3511 treatment reduced cell viability in all GI cancer cell lines, with the greatest potency in HepG2 followed by HCT116 cells. Further, GNE-3511 treatment induced G1 or G2/M cell-cycle arrest and promoted apoptosis by increasing BAX expression and suppressing BCL2, MCL1, and Survivin. GNE-3511 significantly reduced CD133⁺ and CD90⁺ cancer stem cell populations, inhibited migration, spheroid formation, and downregulated the stemness- and EMT-associated regulators Nanog, Snail, Twist, Vimentin, and Zeb1. Moreover, GNE-3511 enhanced intracellular accumulation of doxorubicin by repressing the multidrug resistance transporters ABCB1, ABCC9, and ABCG2. In HCT116 xenografts, GNE-3511 markedly suppressed tumor growth while reproducing the molecular effects observed in vitro. Furthermore, GNE-3511 did not cause treatment-related abnormalities, indicating favorable safety. Mechanistically, GNE-3511 inhibited CDK7/9 signaling, resulting in RB hypophosphorylation, suppression of POLR2A, and depletion of the oncogenic transcriptional regulators cMyc and MCL1. GNE-3511 exerts potent anticancer activity by disrupting CDK7/9-dependent transcriptional programs that regulate proliferation, apoptosis, stemness, EMT, and multidrug resistance. These findings identify GNE-3511 as a potential lead candidate for the treatment of colorectal cancers. - Source: PubMed
Publication date: 2026/08/21
Sharma NidhiPanneerselvam SuriyaBharate Sandip BAndugulapati Sai Balaji - Cantú syndrome (CS) comprises a group of rare multisystem and multi-organ diseases characterized by congenital hypertrichosis, facial dysmorphism, cardiomegaly, and skeletal abnormalities, as well as other clinical manifestations. The current understanding of CS is limited. It is easy to misdiagnose it due to its diverse clinical manifestations and a lack of awareness of the condition. Currently, it is thought that this disorder is inherited in an autosomal dominant manner and caused by mutations in the ATP-sensitive potassium (K) channel, which plays a vital role in both cardiovascular diseases and diabetes. There are currently no effective or specific treatments for CS, and there is a lack of research on the mechanisms of and therapy for this disease. Therefore, it is essential to raise awareness and educate people on CS. Herein, we summarize reported knowledge about CS, including its epidemiology, definition, clinical features, diagnosis, and treatment. - Source: PubMed
Publication date: 2026/07/16
He ShuijingHu DanNichols Colin GHuang Yan - : Cantú syndrome (OMIM #239850) is a rare autosomal dominant disorder caused by gain-of-function variants in or , which encode subunits of the ATP-sensitive potassium (K) channel. Its characteristic features-generalized hypertrichosis, coarse facial appearance, skeletal abnormalities, and cardiovascular involvement-may be overlooked when other major comorbidities dominate the clinical picture. : A 29-year-old Taiwanese woman, born prematurely and complicated by neonatal hydrocephalus with subdural hemorrhage requiring ventriculoperitoneal shunt placement, had been followed since infancy under a working diagnosis of cerebral palsy with left hemiparesis and borderline-to-mild intellectual disability. Over the ensuing years, additional features gradually emerged, including generalized hypertrichosis with thick scalp and body hair, coarse facial features, bilateral hallux valgus, mild thoracic scoliosis, polycystic ovaries, mild aortic regurgitation, recurrent hemoptysis associated with abnormal pulmonary vasculature, and iron-deficiency anemia. Earlier genetic investigations-including chromosome analysis (46,XX), array comparative genomic hybridization (array-CGH; 2013), and a trio-based next-generation sequencing study performed under a national rare disease research initiative (2019)-were unrevealing. Whole-genome sequencing performed in December 2025 identified a heterozygous variant (NM_020297.4:c.4174A>G, p.(Ile1392Val)), initially classified as a variant of uncertain significance. Parental Sanger sequencing confirmed the variant to be de novo, and reclassification according to ACMG/AMP criteria supported a likely pathogenic interpretation. Re-evaluation of the patient's phenotype demonstrated findings consistent with Cantú syndrome. : This case illustrates how Cantú syndrome may remain unrecognized for years when a prominent neurological comorbidity-perinatally acquired hydrocephalus and presumed cerebral palsy-dominates the clinical narrative. We report a previously undescribed de novo missense variant (c.4174A>G, p.(Ile1392Val)), thereby expanding the mutational spectrum associated with Cantú syndrome. This case also highlights the practical value of resequencing and periodic reanalysis using updated next-generation sequencing platforms in patients with long-standing undiagnosed disease, even after prior negative genetic testing. - Source: PubMed
Publication date: 2026/07/15
Lee Chung-LinChang Ya-HuiChuang Chih-KuangChiu Huei-ChingTu Yuan-RongLo Yun-TingWu Jun-YiLin Hsiang-YuLin Shuan-Pei - - Source: PubMed
Publication date: 2026/07/24
Lee RosieShin So YoungKim Chun SooLee Hee JungByun Jun Chul