ANKS1B Gene

HGNC Family	Ankyrin repeat domain containing (ANKRD), Sterile alpha motif (SAM) domain containing (SAMD)
Name	ankyrin repeat and sterile alpha motif domain containing 1B
Description	This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ANKS1B, which encodes the neuronal scaffolding protein AIDA‐1, has emerged as a multifunctional regulator in both the nervous system and cancer. In neurons, AIDA‐1 contains several protein–protein interaction domains (including sterile α‐motifs and phosphotyrosine binding domains) that enable it to organize synaptic signaling complexes. For example, AIDA‐1 has been shown to facilitate the endoplasmic reticulum‐to‐synapse transport of GluN2B‐containing NMDA receptors, thereby modulating synaptic transmission and plasticity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, its interaction with the intracellular domain of the amyloid precursor protein suggests that AIDA‐1 can influence APP processing, a mechanism that may bear relevance to neurodegenerative disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Structural studies further indicate that alternative splicing of AIDA‐1 isoforms regulates its subcellular localization—including activity‐dependent nuclear translocation—which potentially links synaptic events to changes in gene expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Outside the nervous system, ANKS1B also contributes to oncogenesis. A circular RNA originating from ANKS1B (circANKS1B) is markedly up‐regulated in triple‐negative breast cancer, where it promotes invasion and metastasis by sponging miR‐148a/miR‐152, leading to up‐regulation of transcription factors and activation of TGF‐β/Smad signaling that drives epithelial–mesenchymal transition."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Furthermore, genetic polymorphisms in ANKS1B have been linked to differential antipsychotic responses in schizophrenia"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", and down‐regulation of its expression has been reported in smoking‐related clear cell renal cell carcinoma, suggesting a role as a potential biomarker in malignancy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies highlight the pleiotropic functions of ANKS1B/AIDA‐1 in regulating synaptic receptor composition, protein trafficking, and transcriptional signaling in neurons, as well as in modulating oncogenic signaling pathways. This makes ANKS1B a promising target for therapeutic interventions in both neuropsychiatric disorders and cancer.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jaafar O Tindi, Andrés E Chávez, Svetlana Cvejic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ANKS1B Gene Product AIDA-1 Controls Hippocampal Synaptic Transmission by Regulating GluN2B Subunit Localization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.4029-14.2015"}], "href": "https://doi.org/10.1523/JNEUROSCI.4029-14.2015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26085624"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26085624"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Enrico Ghersi, Pasquale Vito, Peter Lopez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The intracellular localization of amyloid beta protein precursor (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is regulated by AbetaPP and alternative splicing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Alzheimers Dis (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/jad-2004-6108"}], "href": "https://doi.org/10.3233/jad-2004-6108"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15004329"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15004329"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ekaterina Smirnova, Riya Shanbhag, Arwa Kurabi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Solution structure and peptide binding of the PTB domain from the AIDA1 postsynaptic signaling scaffolding protein."}]}, {"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.0065605"}], "href": "https://doi.org/10.1371/journal.pone.0065605"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23799029"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23799029"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Arwa Kurabi, Stacey Brener, Mehdi Mobli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A nuclear localization signal at the SAM-SAM domain interface of AIDA-1 suggests a requirement for domain uncoupling prior to nuclear import."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2009.08.004"}], "href": "https://doi.org/10.1016/j.jmb.2009.08.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19666031"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19666031"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kaixuan Zeng, Bangshun He, Burton B Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The pro-metastasis effect of circANKS1B in breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cancer (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12943-018-0914-x"}], "href": "https://doi.org/10.1186/s12943-018-0914-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30454010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30454010"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "J L McClay, D E Adkins, K Aberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2009.89"}], "href": "https://doi.org/10.1038/mp.2009.89"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19721433"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19721433"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Seung-Gul Kang, Ik-Seung Chee, Kwanghun Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "rs7968606 polymorphism of ANKS1B is associated with improvement in the PANSS general score of schizophrenia caused by amisulpride."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Psychopharmacol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hup.2562"}], "href": "https://doi.org/10.1002/hup.2562"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28332719"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28332719"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jeanette E Eckel-Passow, Daniel J Serie, Brian M Bot, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ANKS1B is a smoking-related molecular alteration in clear cell renal cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Urol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2490-14-14"}], "href": "https://doi.org/10.1186/1471-2490-14-14"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24479813"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24479813"}]}]}]}
Synonyms	EB-1, ANKS2, AIDA, AIDA-1, CAJALIN-2
Proteins	ANS1B_HUMAN
NCBI Gene ID	56899
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ANKS1B has 7,093 functional associations with biological entities spanning 9 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, sequence feature) extracted from 119 datasets.

Click the + buttons to view associations for ANKS1B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ANKS1B 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 ANKS1B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ANKS1B protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ANKS1B 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 ANKS1B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ANKS1B 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 ANKS1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ANKS1B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ANKS1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ANKS1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ANKS1B 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 ANKS1B 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 ANKS1B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ANKS1B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ANKS1B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ANKS1B gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ANKS1B 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 ANKS1B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for ANKS1B protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B 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 ANKS1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ANKS1B 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 ANKS1B 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 ANKS1B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ANKS1B 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 ANKS1B from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ANKS1B gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.