Gene Gene information from NCBI Gene database.
Entrez ID 23245
Gene name Astrotactin 2
Gene symbol ASTN2
Synonyms (NCBI Gene)
bA67K19.1
Chromosome 9
Chromosome location 9q33.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
803
miRTarBase ID miRNA Experiments Reference
MIRT029089 hsa-miR-26b-5p Microarray 19088304
MIRT710467 hsa-miR-1251-3p HITS-CLIP 19536157
MIRT710466 hsa-miR-3152-3p HITS-CLIP 19536157
MIRT710465 hsa-miR-6828-3p HITS-CLIP 19536157
MIRT710464 hsa-miR-6071 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IBA
GO:0001764 Process Neuron migration IEA
GO:0005509 Function Calcium ion binding IDA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612856 17021 ENSG00000148219
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75129
Protein name Astrotactin-2
Protein function Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds in
PDB 5J67 , 5J68 , 5J69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14670 FXa_inhibition 703 750 Domain
PF01823 MACPF 853 967 MAC/Perforin domain Domain
PF18411 Annexin_like 1190 1282 Annexin-like domain Domain
PF18577 ASTN_2_hairpin 1286 1332 Astrotactin-2 C-terminal beta-hairpin domain Domain
Sequence
MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPD
SPCRLKTVTVSTLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLL
LFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSS
GQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIP
QKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEE
PPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFR
ANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRS
RRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVV
SEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYA
PDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKS
FVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNG
GCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTL
PLPYDATSSTIFMFCGCVEEYKLAPDGKSC
LMLSDVCEGPKCLKPDSKFNDTLFGEMLHG
YNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLT
GDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHY
GSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLT
AQMLSDD
QLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDN
GTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSS
TVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAG
RSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEE
IADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGP
RKAHLILRRLERVSSHCSSLLR
SAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKIT
CEEKMVSMARNT
YGESKGR
Sequence length 1339
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
60
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTN2-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anhedonia Anhedonia Pubtator 34440368 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 24381304 Associate
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 24381304 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 18839057
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASDB_DG 18839057
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 20889312, 21832240, 27138430
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Autism Pubtator 24381304, 30392976 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 19404257, 21832240
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 19404257
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 19404257 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations