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Aliases for ASTN2 Gene

Aliases for ASTN2 Gene

  • Astrotactin 2 2 3
  • KIAA0634 4 6
  • Astrotactin-2 3
  • BA264C15.1 3
  • BA67K19.1 3

External Ids for ASTN2 Gene

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

Genomic Location for ASTN2 Gene

Start:
116,425,225 bp from pter
End:
117,415,070 bp from pter
Size:
989,846 bases
Orientation:
Minus strand

Genomic View for ASTN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASTN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASTN2 Gene

Regulatory Elements for ASTN2 Gene

Proteins for ASTN2 Gene

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

    Protein Symbol:
    O75129-ASTN2_HUMAN
    Recommended name:
    Astrotactin-2
    Protein Accession:
    O75129
    Secondary Accessions:
    • A2A2T7
    • A2A2T9
    • Q52LQ2
    • Q5JVX8
    • Q5JVX9
    • Q5JVY1
    • Q5VXG8
    • Q5VZX6
    • Q8N6P8
    • Q8WV47
    • Q96FL4
    • Q9UHW6

    Protein attributes for ASTN2 Gene

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

    Alternative splice isoforms for ASTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASTN2 Gene

Proteomics data for ASTN2 Gene at MOPED

Post-translational modifications for ASTN2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn168, Asn783, and Asn1020

No data available for DME Specific Peptides for ASTN2 Gene

Domains for ASTN2 Gene

Protein Domains for ASTN2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

ASTN2_HUMAN
Domain:
  • Contains 3 EGF-like domains.:
    • O75129
  • Contains 1 fibronectin type-III domain.:
    • O75129
Family:
  • Belongs to the astrotactin family.:
    • O75129
genes like me logo Genes that share domains with ASTN2: view

No data available for Gene Families for ASTN2 Gene

Function for ASTN2 Gene

Gene Ontology (GO) - Molecular Function for ASTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ASTN2: view

Phenotypes for ASTN2 Gene

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

miRNA for ASTN2 Gene

miRTarBase miRNAs that target ASTN2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for ASTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0016021 integral component of membrane IEA --
GO:0060187 cell pole IEA --
genes like me logo Genes that share ontologies with ASTN2: view

Pathways 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
YWHAB

Gene Ontology (GO) - Biological Process for ASTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:2000009 negative regulation of protein localization to cell surface IEA --
genes like me logo Genes that share ontologies with ASTN2: view

No data available for Pathways by source for ASTN2 Gene

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: -
SP5:

ExUns: 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ASTN2 Gene

GeneLoc Exon Structure for
ASTN2
ECgene alternative splicing isoforms for
ASTN2

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 (4.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ASTN2 Gene

SOURCE GeneReport for Unigene cluster for ASTN2 Gene Hs.601562

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

Orthologs for ASTN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASTN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASTN2 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 98 (a)
OneToMany
-- 37
  • 99 (a)
OneToMany
ASTN2 36
  • 91.44 (n)
  • 97.7 (a)
dog
(Canis familiaris)
Mammalia ASTN2 36
  • 92.05 (n)
  • 97.46 (a)
ASTN2 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Astn2 36
  • 89.36 (n)
  • 96.51 (a)
Astn2 16
Astn2 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASTN2 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 94 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
-- 37
  • 98 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Astn2 36
  • 88.79 (n)
  • 96.12 (a)
chicken
(Gallus gallus)
Aves ASTN2 36
  • 83.36 (n)
  • 91.75 (a)
ASTN2 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASTN2 37
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia astn2 36
  • 72.04 (n)
  • 77.44 (a)
Str.4808 36
zebrafish
(Danio rerio)
Actinopterygii ASTN2 37
  • 75 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ASTN2 (if available)
TreeFam:
Gene Tree for ASTN2 (if available)

Paralogs for ASTN2 Gene

Paralogs for ASTN2 Gene

Selected 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 MAF
rs7518 -- 116,425,560(-) ATCCC(A/G)AGGCA utr-variant-3-prime
rs42982 -- 117,068,759(+) ggaat(G/T)tatcc intron-variant
rs582314 -- 116,747,019(+) GGGGC(A/C)TAGTC intron-variant
rs596748 -- 116,737,153(-) CGTCG(C/G)TGGGC intron-variant
rs596871 -- 116,737,059(-) CTTCT(C/G)TGTCT 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

Relevant External Links for ASTN2 Gene

HapMap Linkage Disequilibrium report
ASTN2
Human Gene Mutation Database (HGMD)
ASTN2

Disorders for ASTN2 Gene

(1) MalaCards Diseases for ASTN2 Gene

Search for ASTN2 Gene in MalaCards »

Relevant External Links for ASTN2

Genetic Association Database (GAD)
ASTN2
Human Genome Epidemiology (HuGE) Navigator
ASTN2
genes like me logo Genes that share disorders with ASTN2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch K.P. … Jacob C. (J Neural Transm 2008) 3 49
  4. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. (PMID: 18940311) Vrijenhoek T. … Veltman J.A. (Am. J. Hum. Genet. 2008) 3 49
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 49

Products for ASTN2 Gene

Sources for ASTN2 Gene

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