CAMTA1 Gene

Name	calmodulin binding transcription activator 1
Description	The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Calmodulin‐binding transcription activator 1 (CAMTA1) is a multifunctional transcription regulator that plays diverse roles in both normal physiology and disease. In vascular tumors such as epithelioid hemangioendothelioma (EHE), CAMTA1 is most notably involved in a recurrent, oncogenic fusion with WWTR1. This WWTR1–CAMTA1 chimeric gene is found in the vast majority of EHEs and leads to aberrant, constitutive nuclear expression that drives a distinct transcriptional program and resists apoptosis. This fusion event is highly specific and has proven diagnostically useful to distinguish EHE from its histologic mimics."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the central nervous system, CAMTA1 expression is normally limited to the brain, where it is implicated in neurodevelopment. Genetic alterations—including intragenic rearrangements or deletions—of CAMTA1 have been linked to non‐progressive congenital ataxia with or without intellectual disability. In addition, genome‐wide association studies have identified CAMTA1 variants as significant determinants of episodic memory performance, suggesting its role in neuronal differentiation and cognitive function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n CAMTA1 also appears to act as a tumor suppressor in neuroblastoma—a cancer in which deletions at 1p36.3 (the locus harboring CAMTA1) are common. Low expression of CAMTA1 in neuroblastoma correlates with poor clinical outcomes, whereas its ectopic re‐expression slows cellular proliferation, promotes G₁/G₀ cell cycle arrest, inhibits anchorage‐independent growth, and induces markers of neuronal differentiation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In glioblastoma stem cell populations, CAMTA1 has been identified as a target of oncogenic microRNAs. Its expression in these cells leads to reduced neurosphere formation and diminished tumor growth in vivo, again supporting a tumor‐suppressive role in the context of aggressive brain cancers."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond the nervous system and cancer, genetic variations at or near the CAMTA1 locus have been linked to other disease processes. For instance, a common CAMTA1 polymorphism is associated with reduced survival in amyotrophic lateral sclerosis, and the locus is part of a broader susceptibility region jointly implicated in coronary artery disease and aggressive periodontitis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, in EHE the oncogenic TAZ–CAMTA1 fusion protein illustrates how CAMTA1’s transcriptional and epigenetic regulatory domains can collaborate with TAZ’s coactivator functions. The resulting chimeric protein deregulates gene expression programs—altering chromatin structure and promoting cell survival—that collectively drive tumor formation and progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings underscore CAMTA1’s context‐dependent functions: as an essential mediator of normal neural development and memory, as well as a critical player in tumor suppression or oncogenic transformation when its expression or structure is disrupted.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Cristina R Antonescu, Francois Le Loarer, Juan-Miguel Mosquera, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.22073"}], "href": "https://doi.org/10.1002/gcc.22073"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23737213"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23737213"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Costantino Errani, Lei Zhang, Yun Shao Sung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.20886"}], "href": "https://doi.org/10.1002/gcc.20886"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21584898"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21584898"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Leona A Doyle, Christopher D M Fletcher, Jason L Hornick "}, {"type": "b", "children": [{"type": "t", "text": "Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Surg Pathol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/PAS.0000000000000511"}], "href": "https://doi.org/10.1097/PAS.0000000000000511"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26414223"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26414223"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Feng Zhi, Xiangshan Cao, Xiaobao Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of circulating microRNAs as potential biomarkers for detecting acute myeloid leukemia."}]}, {"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.0056718"}], "href": "https://doi.org/10.1371/journal.pone.0056718"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23437222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23437222"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Matthew J Huentelman, Andreas Papassotiropoulos, David W Craig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm097"}], "href": "https://doi.org/10.1093/hmg/ddm097"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17470457"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17470457"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Costantino Errani, Yun Shao Sung, Lei Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cancergen.2011.10.008"}], "href": "https://doi.org/10.1016/j.cancergen.2011.10.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22429593"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22429593"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kai-Oliver Henrich, Tobias Bauer, Johannes Schulte, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CAMTA1, a 1p36 tumor suppressor candidate, inhibits growth and activates differentiation programs in neuroblastoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-10-3014"}], "href": "https://doi.org/10.1158/0008-5472.CAN-10-3014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21385898"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21385898"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Daniel Schraivogel, Lasse Weinmann, Dagmar Beier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CAMTA1 is a novel tumour suppressor regulated by miR-9/9* in glioblastoma stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/emboj.2011.301"}], "href": "https://doi.org/10.1038/emboj.2011.301"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21857646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21857646"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Isabella Fogh, Kuang Lin, Cinzia Tiloca, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JAMA Neurol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/jamaneurol.2016.1114"}], "href": "https://doi.org/10.1001/jamaneurol.2016.1114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27244217"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27244217"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Wijnand J Teeuw, Marja L Laine, Sergio Bizzarro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Lead ANRIL Polymorphism Is Associated with Elevated CRP Levels in Periodontitis: A Pilot Case-Control Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0137335"}], "href": "https://doi.org/10.1371/journal.pone.0137335"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26348353"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26348353"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Nicole Merritt, Keith Garcia, Dushyandi Rajendran, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.62857"}], "href": "https://doi.org/10.7554/eLife.62857"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33913810"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33913810"}]}]}]}
Synonyms	CANPMR
Proteins	CMTA1_HUMAN
NCBI Gene ID	23261
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CAMTA1 has 6,675 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 116 datasets.

Click the + buttons to view associations for CAMTA1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CAMTA1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CAMTA1 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 CAMTA1 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 CAMTA1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CAMTA1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CAMTA1 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 CAMTA1 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 CAMTA1 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 CAMTA1 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 CAMTA1 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 CAMTA1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CAMTA1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CAMTA1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CAMTA1 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 CAMTA1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CAMTA1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CAMTA1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CAMTA1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CAMTA1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CAMTA1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CAMTA1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CAMTA1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CAMTA1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CAMTA1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CAMTA1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CAMTA1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CAMTA1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CAMTA1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with CAMTA1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CAMTA1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CAMTA1 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 CAMTA1 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 CAMTA1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CAMTA1 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 CAMTA1 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 CAMTA1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CAMTA1 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 CAMTA1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CAMTA1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CAMTA1 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 CAMTA1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.