ASTN2 Gene

Name	astrotactin 2
Description	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Astrotactin 2 (ASTN2) is a vertebrate‐specific integral membrane protein that plays a pivotal role in the developing nervous system. In particular, its function in facilitating glial‐guided neuronal migration and modulating synaptic adhesion and receptor trafficking has been emphasized by studies demonstrating that structural alterations or copy number changes in ASTN2 are associated with a broad spectrum of neurodevelopmental and neuropsychiatric disorders—including autism spectrum disorder, attention‐deficit/hyperactivity disorder, schizophrenia, and even cognitive decline in Alzheimer’s disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Detailed structural analyses reveal that ASTN2 contains a unique combination of domains—a perforin‐like module, a variant fibronectin type III domain, an epidermal growth factor–like element, and an annexin‐like domain—that together enable it to bind phosphoinositides and calcium. These features appear to underpin its ability to regulate membrane recognition and intracellular signaling cascades, thereby influencing not only neuronal migration via neuron–glia interactions but also synaptic plasticity and the dynamics of cell surface proteins."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, genetic association studies have implicated ASTN2 variants in multiple phenotypes beyond classical neurodevelopment—including effects on proximal femur shape linked to osteoarthritis, alterations in hippocampal volume with potential cognitive consequences, and even differences in opioid analgesic requirements—suggesting that ASTN2’s functions may extend to modulating diverse aspects of cellular architecture and signaling."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, the collective evidence indicates that ASTN2 serves as a key regulator of neuronal placement and synaptic connectivity during brain development. Its complex domain organization and regulated processing enable it to influence membrane dynamics and intracellular signaling, with genetic disruptions in ASTN2 contributing to an array of neurodevelopmental, neuropsychiatric, and possibly metabolic phenotypes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Klaus-Peter Lesch, Nina Timmesfeld, Tobias J Renner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neural Transm (Vienna) (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00702-008-0119-3"}], "href": "https://doi.org/10.1007/s00702-008-0119-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18839057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18839057"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Anath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddt669"}], "href": "https://doi.org/10.1093/hmg/ddt669"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24381304"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24381304"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Juliette Nectoux, Rafael de Cid, Sylvain Baulande, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2014.223"}], "href": "https://doi.org/10.1038/ejhg.2014.223"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25351777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25351777"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tao Ni, Karl Harlos, Robert Gilbert "}, {"type": "b", "children": [{"type": "t", "text": "Structure of astrotactin-2: a conserved vertebrate-specific and perforin-like membrane protein involved in neuronal development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Open Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1098/rsob.160053"}], "href": "https://doi.org/10.1098/rsob.160053"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27249642"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27249642"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Patricia Lara, Åsa Tellgren-Roth, Hourinaz Behesti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Murine astrotactins 1 and 2 have a similar membrane topology and mature via endoproteolytic cleavage catalyzed by a signal peptidase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.RA118.007093"}], "href": "https://doi.org/10.1074/jbc.RA118.007093"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30696770"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30696770"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Hao Chang, Hugh Cahill, Philip M Smallwood, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Astrotactin2 as a Genetic Modifier That Regulates the Global Orientation of Mammalian Hair Follicles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1005532"}], "href": "https://doi.org/10.1371/journal.pgen.1005532"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26418459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26418459"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ke-Sheng Wang, Silvina Tonarelli, Xingguang Luo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neural Transm (Vienna) (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00702-014-1306-z"}], "href": "https://doi.org/10.1007/s00702-014-1306-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25410587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25410587"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Rie Inoue, Daisuke Nishizawa, Junko Hasegawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effects of rs958804 and rs7858836 single-nucleotide polymorphisms of the ASTN2 gene on pain-related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuropsychopharmacol Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/npr2.12159"}], "href": "https://doi.org/10.1002/npr2.12159"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33476460"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33476460"}]}]}]}
Synonyms	BA67K19.1
Proteins	ASTN2_HUMAN
NCBI Gene ID	23245
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ASTN2 has 6,520 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 115 datasets.

Click the + buttons to view associations for ASTN2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ASTN2 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 ASTN2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ASTN2 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 ASTN2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ASTN2 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 ASTN2 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 ASTN2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ASTN2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ASTN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ASTN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ASTN2 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 2025	cellular components co-occuring with ASTN2 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 ASTN2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ASTN2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ASTN2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ASTN2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ASTN2 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 ASTN2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for ASTN2 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ASTN2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 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 ASTN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ASTN2 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 ASTN2 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 ASTN2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ASTN2 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 ASTN2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.