CHD2 Gene

Name chromodomain helicase DNA binding protein 2
Description The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CHD2 encodes an ATP‐dependent chromatin remodeler that plays diverse roles in regulating chromatin structure and thereby modulates multiple fundamental cellular processes. In the context of the DNA damage response, CHD2 is rapidly recruited—via PARP1‐dependent poly(ADP‐ribosyl)ation—to sites of double‐strand DNA breaks, where it facilitates chromatin expansion and promotes the deposition of the histone variant H3.3, actions that are critical for proper repair and the stabilization of replication forks."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the nervous system, CHD2 is highly expressed in radial glial progenitors, where it sustains self‐renewal and regulates neuronal differentiation through direct modulation of key factors such as REST. Disruption of CHD2 function—whether by de novo loss‐of‐function mutations, inherited variants, or chromosomal rearrangements—leads to a broad spectrum of neurodevelopmental impairments. These include early onset epileptic encephalopathies, generalized and photosensitive epilepsies (with seizure types ranging from myoclonic to atonic), intellectual disability, and even behavioral abnormalities such as those seen in autism spectrum disorders and schizophrenia."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "14"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its critical functions in neuronal development, CHD2 contributes to the maintenance of genomic integrity and the regulation of gene transcription in other tissues. Its role as a tumor suppressor is evidenced by its involvement in hematopoietic stem cell differentiation and in protecting against lymphomagenesis and glomerulopathy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "15"}]}, {"type": "t", "text": " In addition, CHD2 activity is subject to regulation by noncoding RNAs; for instance, the long noncoding RNA Chaserr acts in cis to fine‐tune CHD2 expression levels, underscoring the importance of precise dosage for proper cellular function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "17"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n At the biochemical level, CHD2’s remodeling activity—mediated by distinct regulatory domains that coordinate its ATPase function and substrate specificity—enables the assembly of chromatin into periodic arrays, a structural reorganization fundamental for transcriptional regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "18"}]}, {"type": "t", "text": " Moreover, CHD2 has been implicated in the regulation of viral gene transcription, acting as a positive effector of HIV-1 expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "19"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, emerging evidence links altered CHD2 expression with changes in tissue homeostasis and disease susceptibility beyond the nervous system. For example, deregulation of CHD2 has been observed in contexts ranging from chronic lymphocytic leukemia and obesity-related traits to pregnancy-induced modifications in the breast that may influence cancer risk."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "20", "end_ref": "25"}]}, {"type": "t", "text": " In one illustrative case, chromosomal disruption of CHD2 was associated with scoliosis and developmental delay, further emphasizing its pleiotropic impact on human phenotype."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "26"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, CHD2 functions as a master regulator of chromatin dynamics, integrating signals from DNA damage, developmental cues, and transcriptional networks to maintain genomic integrity, regulate gene expression, and ensure proper cellular differentiation. Disruption of CHD2—through mutation, altered regulation, or chromosomal breakage—can thus lead to a spectrum of pathologies, ranging from epileptic encephalopathies and neurodevelopmental disorders to cancer and metabolic dysfunction.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Martijn S Luijsterburg, Inge de Krijger, Wouter W Wiegant, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2016.01.019"}], "href": "https://doi.org/10.1016/j.molcel.2016.01.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26895424"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26895424"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sangeetha Rajagopalan, Justin Nepa, Sundaresan Venkatachalam "}, {"type": "b", "children": [{"type": "t", "text": "Chromodomain helicase DNA-binding protein 2 affects the repair of X-ray and UV-induced DNA damage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Environ Mol Mutagen (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/em.20674"}], "href": "https://doi.org/10.1002/em.20674"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22223433"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22223433"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yunsheng Zhang, Lifang Yang, Yiting Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPATA12 and its possible role in DNA damage induced by ultraviolet-C."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0078201"}], "href": "https://doi.org/10.1371/journal.pone.0078201"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24205157"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24205157"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Arvid Suls, Johanna A Jaehn, Angela Kecskés, et al. "}, {"type": "b", "children": [{"type": "t", "text": "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.09.017"}], "href": "https://doi.org/10.1016/j.ajhg.2013.09.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24207121"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24207121"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Elizabeth C Galizia, Candace T Myers, Costin Leu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHD2 variants are a risk factor for photosensitivity in epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awv052"}], "href": "https://doi.org/10.1093/brain/awv052"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25783594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25783594"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000001305"}], "href": "https://doi.org/10.1212/WNL.0000000000001305"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25672921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25672921"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tianjin Shen, Fen Ji, Zengqiang Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Stem Cells (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/stem.2001"}], "href": "https://doi.org/10.1002/stem.2001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25786798"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25786798"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Marina Trivisano, Pasquale Striano, Jacopo Sartorelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsy Behav (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yebeh.2015.06.029"}], "href": "https://doi.org/10.1016/j.yebeh.2015.06.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26262932"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26262932"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jiaoyang Chen, Jing Zhang, Aijie Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHD2-related epilepsy: novel mutations and new phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Med Child Neurol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/dmcn.14367"}], "href": "https://doi.org/10.1111/dmcn.14367"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31677157"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31677157"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Andrea Klunder Petersen, Haley Streff, Mari Tokita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38835"}], "href": "https://doi.org/10.1002/ajmg.a.38835"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29740950"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29740950"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ifrah Zawar, Elia Pestana Knight "}, {"type": "b", "children": [{"type": "t", "text": "Epilepsy With Eyelid Myoclonia (Jeavons Syndrome)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Neurol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.pediatrneurol.2020.11.018"}], "href": "https://doi.org/10.1016/j.pediatrneurol.2020.11.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34167046"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34167046"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Beatrice De Maria, Simona Balestrini, Davide Mei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62548"}], "href": "https://doi.org/10.1002/ajmg.a.62548"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34713950"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34713950"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Rebecca García Sosa, Srishti Nangia "}, {"type": "b", "children": [{"type": "t", "text": "Photosensitivity and CHD2 Variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Neurol Briefs (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15844/pedneurbriefs-29-9-1"}], "href": "https://doi.org/10.15844/pedneurbriefs-29-9-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26933602"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26933602"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Alice Poisson, Nicolas Chatron, Audrey Labalme, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-019-0946-0"}], "href": "https://doi.org/10.1186/s12881-019-0946-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31914951"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31914951"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "P Nagarajan, T M Onami, S Rajagopalan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of chromodomain helicase DNA-binding protein 2 in DNA damage response signaling and tumorigenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2008.440"}], "href": "https://doi.org/10.1038/onc.2008.440"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19137022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19137022"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Concetta G A Marfella, Nils Henninger, Scott E LeBlanc, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mutation in the mouse Chd2 chromatin remodeling enzyme results in a complex renal phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kidney Blood Press Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000190788"}], "href": "https://doi.org/10.1159/000190788"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19142019"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19142019"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Aviv Rom, Liliya Melamed, Noa Gil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-13075-8"}], "href": "https://doi.org/10.1038/s41467-019-13075-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31704914"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31704914"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Jessica C Liu, Catarina G Ferreira, Timur Yusufzai "}, {"type": "b", "children": [{"type": "t", "text": "Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.609156"}], "href": "https://doi.org/10.1074/jbc.M114.609156"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25384982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25384982"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Melissa J Rodgers, David J Banks, Kenneth A Bradley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHD1 and CHD2 are positive regulators of HIV-1 gene expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Virol J (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1743-422X-11-180"}], "href": "https://doi.org/10.1186/1743-422X-11-180"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25297984"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25297984"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "David Rodríguez, Gabriel Bretones, Víctor Quesada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2014-10-604959"}], "href": "https://doi.org/10.1182/blood-2014-10-604959"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26031915"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26031915"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Kari A Sarahan, Janis S Fisler, Craig H Warden "}, {"type": "b", "children": [{"type": "t", "text": "Four out of eight genes in a mouse chromosome 7 congenic donor region are candidate obesity genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Physiol Genomics (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/physiolgenomics.00134.2010"}], "href": "https://doi.org/10.1152/physiolgenomics.00134.2010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21730028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21730028"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Blair Mell, Xi Cheng, Bina Joe "}, {"type": "b", "children": [{"type": "t", "text": "QTL mapping of rat blood pressure loci on RNO1 within a homologous region linked to human hypertension on HSA15."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0221658"}], "href": "https://doi.org/10.1371/journal.pone.0221658"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31442284"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31442284"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Jose Russo, Julia Santucci-Pereira, Ricardo López de Cicco, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pregnancy-induced chromatin remodeling in the breast of postmenopausal women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.27323"}], "href": "https://doi.org/10.1002/ijc.27323"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22025034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22025034"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Jose Russo, Julia Santucci-Pereira, Irma H Russo "}, {"type": "b", "children": [{"type": "t", "text": "The genomic signature of breast cancer prevention."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes (Basel) (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/genes5010065"}], "href": "https://doi.org/10.3390/genes5010065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24705287"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24705287"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Maria Barton, Julia Santucci-Pereira, Jose Russo "}, {"type": "b", "children": [{"type": "t", "text": "Molecular pathways involved in pregnancy-induced prevention against breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Endocrinol (Lausanne) (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fendo.2014.00213"}], "href": "https://doi.org/10.3389/fendo.2014.00213"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25540638"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25540638"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Shashikant Kulkarni, Prabakaran Nagarajan, Jonathan Wall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.32178"}], "href": "https://doi.org/10.1002/ajmg.a.32178"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18386809"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18386809"}]}]}]}
Synonyms EEOC
Proteins CHD2_HUMAN
NCBI Gene ID 1106
API
Download Associations
Predicted Functions View CHD2's ARCHS4 Predicted Functions.
Co-expressed Genes View CHD2's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View CHD2's ARCHS4 Predicted Functions.

Functional Associations

CHD2 has 5,400 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 104 datasets.

Click the + buttons to view associations for CHD2 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Achilles Cell Line Gene Essentiality Profiles cell lines with fitness changed by CHD2 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of CHD2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of CHD2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of CHD2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of CHD2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Cell Line Gene Expression Profiles cell lines with high or low expression of CHD2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of CHD2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of CHD2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of CHD2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of CHD2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
CCLE Cell Line Proteomics Cell lines associated with CHD2 protein from the CCLE Cell Line Proteomics dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHD2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of CHD2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of CHD2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations phenotypes associated with CHD2 gene from the curated ClinVar Gene-Phenotype Associations dataset.
CMAP Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of CHD2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing CHD2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores cellular components containing CHD2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with CHD2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of CHD2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with CHD2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Disease Associations diseases associated with CHD2 gene/protein from the curated CTD Gene-Disease Associations dataset.
dbGAP Gene-Trait Associations traits associated with CHD2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by CHD2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Curated Gene-Disease Association Evidence Scores diseases involving CHD2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving CHD2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores diseases associated with CHD2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with CHD2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with CHD2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with CHD2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with CHD2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at CHD2 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHD2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of CHD2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing CHD2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GAD Gene-Disease Associations diseases associated with CHD2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with CHD2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GDSC Cell Line Gene Expression Profiles cell lines with high or low expression of CHD2 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with CHD2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing CHD2 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of CHD2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of CHD2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of CHD2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of CHD2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of CHD2 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of CHD2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2015 biological processes involving CHD2 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving CHD2 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Cellular Component Annotations 2015 cellular components containing CHD2 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2023 cellular components containing CHD2 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by CHD2 gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by CHD2 gene from the curated GO Molecular Function Annotations 2023 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of CHD2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of CHD2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of CHD2 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations phenotypes associated with CHD2 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
GWASdb SNP-Disease Associations diseases associated with CHD2 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
GWASdb SNP-Phenotype Associations phenotypes associated with CHD2 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of CHD2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HMDB Metabolites of Enzymes interacting metabolites for CHD2 protein from the curated HMDB Metabolites of Enzymes dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of CHD2 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of CHD2 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of CHD2 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of CHD2 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
HPM Cell Type and Tissue Protein Expression Profiles cell types and tissues with high or low expression of CHD2 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset.
HPO Gene-Disease Associations phenotypes associated with CHD2 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Hub Proteins Protein-Protein Interactions interacting hub proteins for CHD2 from the curated Hub Proteins Protein-Protein Interactions dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with CHD2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by CHD2 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for CHD2 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of CHD2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Kinase Library Serine Threonine Kinome Atlas kinases that phosphorylate CHD2 protein from the Kinase Library Serine Threonine Atlas dataset.
Kinase Library Tyrosine Kinome Atlas kinases that phosphorylate CHD2 protein from the Kinase Library Tyrosine Kinome Atlas dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of CHD2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles cell lines with high or low expression of CHD2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with CHD2 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of CHD2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of CHD2 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain CHD2 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by CHD2 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MiRTarBase microRNA Targets microRNAs targeting CHD2 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of CHD2 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of CHD2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by CHD2 gene mutations from the MPO Gene-Phenotype Associations dataset.
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations gene perturbations changing expression of CHD2 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset.
OMIM Gene-Disease Associations phenotypes associated with CHD2 gene from the curated OMIM Gene-Disease Associations dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for CHD2 from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of CHD2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of CHD2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving CHD2 protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving CHD2 protein from the Wikipathways PFOCR 2024 dataset.
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles cell types and tissues with high or low expression of CHD2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at CHD2 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of CHD2 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of CHD2 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sanger Dependency Map Cancer Cell Line Proteomics cell lines associated with CHD2 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset.
SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs drug perturbations changing phosphorylation of CHD2 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of CHD2 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of CHD2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of CHD2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of CHD2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of CHD2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with CHD2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
WikiPathways Pathways 2024 pathways involving CHD2 protein from the WikiPathways Pathways 2024 dataset.