CD2AP Gene

Name	CD2-associated protein
Description	This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CD2‐associated protein (CD2AP) is a multifunctional adaptor molecule that plays a central role in maintaining the integrity of the glomerular filtration barrier. In podocytes, CD2AP localizes to the slit diaphragm, where it directly binds to key structural proteins such as nephrin via its C‐terminal domain and thereby bridges membrane complexes to the underlying actin cytoskeleton."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " This direct interaction not only reinforces the physical link between the plasma membrane and F‐actin but also facilitates the dynamic organization of podocyte foot processes essential for proper filtration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, CD2AP is instrumental in modulating intracellular signaling pathways. It selectively promotes the activation of anti‐apoptotic cascades, such as the phosphatidylinositol 3–kinase (PI3K)/AKT and extracellular signal–regulated kinase (ERK) pathways, in response to stimuli like transforming growth factor–β (TGF–β), while concurrently restraining pro–apoptotic signals (e.g., p38 MAPK). Loss or haploinsufficiency of CD2AP disrupts these protective responses, thereby enhancing podocyte apoptosis and predisposing to proteinuric conditions, including focal segmental glomerulosclerosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, CD2AP contributes to intracellular degradation pathways by ensuring proper formation of multivesicular bodies, further supporting podocyte homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Genetic studies underscore its importance; interactions between CD2AP and other podocyte proteins such as synaptopodin not only illustrate its integrative role in cytoskeletal regulation but also reveal that combined deficiencies can lead to spontaneous proteinuria and glomerular injury."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings indicate that CD2AP functions as a key adaptor that integrates membrane protein organization, cytoskeletal dynamics, and intracellular signaling in podocytes. Disruption of CD2AP’s normal activities compromises the structural and signaling milieu required for podocyte viability, thereby contributing to the pathogenesis of glomerular diseases.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "N Y Shih, J Li, R Cotran, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0002-9440(10)63080-5"}], "href": "https://doi.org/10.1016/S0002-9440(10"}, {"type": "t", "text": "63080-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11733379"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11733379"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sanna Lehtonen, Fang Zhao, Eero Lehtonen "}, {"type": "b", "children": [{"type": "t", "text": "CD2-associated protein directly interacts with the actin cytoskeleton."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Renal Physiol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajprenal.00312.2001"}], "href": "https://doi.org/10.1152/ajprenal.00312.2001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12217865"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12217865"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jeong M Kim, Hui Wu, Gopa Green, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1081068"}], "href": "https://doi.org/10.1126/science.1081068"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12764198"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12764198"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mario Schiffer, Peter Mundel, Andrey S Shaw, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel role for the adaptor molecule CD2-associated protein in transforming growth factor-beta-induced apoptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M403534200"}], "href": "https://doi.org/10.1074/jbc.M403534200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15213232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15213232"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Suma Yaddanapudi, Mehmet M Altintas, Andreas D Kistler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CD2AP in mouse and human podocytes controls a proteolytic program that regulates cytoskeletal structure and cellular survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI58552"}], "href": "https://doi.org/10.1172/JCI58552"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21911934"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21911934"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Moin A Saleem, Lan Ni, Ian Witherden, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0002-9440(10)64421-5"}], "href": "https://doi.org/10.1016/S0002-9440(10"}, {"type": "t", "text": "64421-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12368218"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12368218"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tobias B Huber, Christopher Kwoh, Hui Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI27400"}], "href": "https://doi.org/10.1172/JCI27400"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16628251"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16628251"}]}]}]}
Synonyms	CMS
Proteins	CD2AP_HUMAN
NCBI Gene ID	23607
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CD2AP has 9,718 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 140 datasets.

Click the + buttons to view associations for CD2AP from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CD2AP 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 CD2AP 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 CD2AP gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CD2AP gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CD2AP 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 CD2AP 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 CD2AP 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 CD2AP 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 CD2AP 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 CD2AP gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CD2AP gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CD2AP 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 CD2AP gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CD2AP protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CD2AP 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 CD2AP gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CD2AP 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 CD2AP 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 CD2AP gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CD2AP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CD2AP protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CD2AP gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CD2AP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CD2AP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CD2AP protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CD2AP 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 CD2AP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CD2AP protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CD2AP gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CD2AP gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CD2AP gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CD2AP gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CD2AP 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 CD2AP gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with CD2AP 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 CD2AP 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 CD2AP 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 CD2AP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CD2AP 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 CD2AP 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 CD2AP gene from the ENCODE Transcription Factor Binding Site Profiles dataset.