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Aliases for ASTN2 Gene

Aliases for ASTN2 Gene

  • Astrotactin 2 2 3 5
  • BA264C15.1 3
  • BA67K19.1 3
  • KIAA0634 4

External Ids for ASTN2 Gene

Previous GeneCards Identifiers for ASTN2 Gene

  • GC09M110015
  • GC09M110836
  • GC09M112641
  • GC09M114563
  • GC09M116267
  • GC09M118227
  • GC09M119187
  • GC09M088793

Summaries for ASTN2 Gene

Entrez Gene Summary for ASTN2 Gene

  • 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]

GeneCards Summary for ASTN2 Gene

ASTN2 (Astrotactin 2) is a Protein Coding gene. Diseases associated with ASTN2 include Schizophrenia. An important paralog of this gene is ASTN1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASTN2 Gene

Genomics for ASTN2 Gene

Regulatory Elements for ASTN2 Gene

Enhancers for ASTN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASTN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASTN2 Gene

116,425,225 bp from pter
117,415,070 bp from pter
989,846 bases
Minus strand

Genomic View for ASTN2 Gene

Genes around ASTN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASTN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASTN2 Gene

Proteins for ASTN2 Gene

  • Protein details for ASTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A2A2T7
    • A2A2T9
    • Q52LQ2
    • Q5JVX8
    • Q5JVX9
    • Q5JVY1
    • Q5VXG8
    • Q5VZX6
    • Q8N6P8
    • Q8WV47
    • Q96FL4
    • Q9UHW6

    Protein attributes for ASTN2 Gene

    1339 amino acids
    Molecular mass:
    148243 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAF14357.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA31609.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ASTN2 Gene


neXtProt entry for ASTN2 Gene

Proteomics data for ASTN2 Gene at MOPED

Post-translational modifications for ASTN2 Gene

  • Glycosylation at Asn 168, Asn 783, and Asn 1020
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASTN2 Gene

Domains & Families for ASTN2 Gene

Protein Domains for ASTN2 Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 3 EGF-like domains.
  • Belongs to the astrotactin family.
  • Contains 3 EGF-like domains.
  • Contains 1 fibronectin type-III domain.
  • Belongs to the astrotactin family.
genes like me logo Genes that share domains with ASTN2: view

No data available for Gene Families for ASTN2 Gene

Function for ASTN2 Gene

genes like me logo Genes that share phenotypes with ASTN2: view

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASTN2 Gene

Localization for ASTN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASTN2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for ASTN2 Gene COMPARTMENTS Subcellular localization image for ASTN2 gene
Compartment Confidence
plasma membrane 3
cytosol 2
endosome 2
nucleus 2
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ASTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0060187 cell pole IEA --
genes like me logo Genes that share ontologies with ASTN2: view

Pathways & Interactions for ASTN2 Gene

SuperPathways for ASTN2 Gene

No Data Available

Interacting Proteins for ASTN2 Gene

Selected Interacting proteins: O75129-ASTN2_HUMAN for ASTN2 Gene via I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for ASTN2 Gene


No data available for Pathways by source and SIGNOR curated interactions for ASTN2 Gene

Drugs & Compounds for ASTN2 Gene

No Compound Related Data Available

Transcripts for ASTN2 Gene

Unigene Clusters for ASTN2 Gene

Astrotactin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASTN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: -

ExUns: 22 ^ 23

Relevant External Links for ASTN2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ASTN2 Gene

mRNA expression in normal human tissues for ASTN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASTN2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x4.0).

Protein differential expression in normal tissues from HIPED for ASTN2 Gene

This gene is overexpressed in Pancreas (33.0), Heart (23.3), and Testis (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASTN2 Gene

SOURCE GeneReport for Unigene cluster for ASTN2 Gene Hs.601562

genes like me logo Genes that share expression patterns with ASTN2: view

Protein tissue co-expression partners for ASTN2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ASTN2 Gene

Orthologs for ASTN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASTN2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ASTN2 35
  • 91.44 (n)
  • 97.7 (a)
-- 36
  • 98 (a)
-- 36
  • 99 (a)
(Canis familiaris)
Mammalia ASTN2 35
  • 92.05 (n)
  • 97.46 (a)
ASTN2 36
  • 97 (a)
(Mus musculus)
Mammalia Astn2 35
  • 89.36 (n)
  • 96.51 (a)
Astn2 16
Astn2 36
  • 91 (a)
(Rattus norvegicus)
Mammalia Astn2 35
  • 88.79 (n)
  • 96.12 (a)
(Monodelphis domestica)
Mammalia ASTN2 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
-- 36
  • 87 (a)
-- 36
  • 98 (a)
(Pan troglodytes)
Mammalia ASTN2 36
  • 93 (a)
(Gallus gallus)
Aves ASTN2 35
  • 83.36 (n)
  • 91.75 (a)
ASTN2 36
  • 81 (a)
(Anolis carolinensis)
Reptilia ASTN2 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia astn2 35
  • 72.04 (n)
  • 77.44 (a)
Str.4808 35
(Danio rerio)
Actinopterygii ASTN2 36
  • 75 (a)
Species with no ortholog for ASTN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASTN2 Gene

Gene Tree for ASTN2 (if available)
Gene Tree for ASTN2 (if available)

Paralogs for ASTN2 Gene

Paralogs for ASTN2 Gene

(1) SIMAP similar genes for ASTN2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ASTN2: view

Variants for ASTN2 Gene

Sequence variations from dbSNP and Humsavar for ASTN2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs16933591 -, - 116,487,411(+) ACTGA(C/T)TTCAG reference, missense
rs3818503 - 116,729,024(+) TCACA(C/T)GGTAG reference, missense
VAR_036768 A breast cancer sample
VAR_064699 -
rs636455 -- 116,739,472(-) TTCCA(C/G)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASTN2 Gene

Variant ID Type Subtype PubMed ID
nsv7434 OTHER Inversion 18451855
nsv893773 CNV Gain 21882294
nsv6688 CNV Loss 18451855
nsv893774 CNV Gain 21882294
esv2738976 CNV Deletion 23290073
nsv831701 CNV Gain 17160897
nsv893775 CNV Loss 21882294
nsv6689 CNV Insertion 18451855
nsv831702 CNV Gain 17160897
nsv893776 CNV Loss 21882294
nsv893777 CNV Loss 21882294
esv2479018 CNV Deletion 19546169
esv2157560 CNV Deletion 18987734
esv4962 CNV Deletion 18987735
esv2738977 CNV Deletion 23290073
esv8743 CNV Loss 19470904
nsv519739 CNV Loss 19592680
nsv893778 CNV Loss 21882294
esv22425 CNV Gain 19812545
esv259771 OTHER Complex 20981092
nsv516416 CNV Gain 19592680
nsv466548 CNV Gain 19166990
nsv8564 CNV Gain 18304495
dgv2417e1 CNV Complex 17122850
nsv818720 CNV Gain 17921354
nsv466549 CNV Gain 19166990
nsv471321 CNV Gain 18288195
nsv893779 CNV Loss 21882294
esv2664595 CNV Deletion 23128226
nsv521419 CNV Loss 19592680
esv275361 CNV Loss 21479260
esv2738978 CNV Deletion 23290073
nsv8565 CNV Loss 18304495
nsv893780 CNV Loss 21882294
nsv415481 CNV Loss 16902084
esv1726642 CNV Insertion 17803354
nsv528743 CNV Gain 19592680
nsv831704 CNV Gain 17160897
nsv893781 CNV Gain 21882294
nsv893782 CNV Loss 21882294
nsv523606 CNV Gain 19592680
nsv893783 CNV Loss 21882294
nsv525876 CNV Loss 19592680
nsv893784 CNV Gain 21882294
esv2538663 CNV Insertion 19546169
esv2669090 CNV Deletion 23128226
nsv516642 CNV Gain+Loss 19592680
nsv893785 CNV Loss 21882294
esv2514494 CNV Deletion 19546169
nsv893786 CNV Gain 21882294
nsv519360 CNV Loss 19592680
esv2677719 CNV Deletion 23128226
nsv818721 CNV Loss 17921354
esv2738979 CNV Deletion 23290073
esv2660226 CNV Deletion 23128226
dgv8276n71 CNV Loss 21882294
esv2738980 CNV Deletion 23290073
esv1936473 CNV Deletion 18987734
esv2738981 CNV Deletion 23290073
nsv893789 CNV Gain 21882294
esv32690 CNV Gain 17666407
esv33017 CNV Gain 17666407
esv32663 CNV Gain 17666407
nsv831705 CNV Gain 17160897
esv271502 CNV Insertion 20981092
nsv893790 CNV Gain 21882294
esv2663273 CNV Deletion 23128226
nsv415499 CNV Loss 16902084
nsv893791 CNV Gain 21882294
esv2672712 CNV Deletion 23128226

Variation tolerance for ASTN2 Gene

Residual Variation Intolerance Score: 3.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.45; 77.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASTN2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASTN2 Gene

Disorders for ASTN2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASTN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search ASTN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASTN2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ASTN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASTN2 Gene

Publications for ASTN2 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer's disease. (PMID: 25410587) Wang K.S. … Xu C. (J Neural Transm (Vienna) 2015) 3
  3. Investigation of association between hip osteoarthritis susceptibility loci and radiographic proximal femur shape. (PMID: 25939412) Lindner C. … Wallis G.A. ( 2015) 3
  4. FBXL12-Mediated Degradation of ALDH3 is Essential for Trophoblast Differentiation During Placental Development. (PMID: 26124079) Nishiyama M. … Nakayama K.I. (Stem Cells 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ASTN2 Gene

Sources for ASTN2 Gene