Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23245
Gene name Gene Name - the full gene name approved by the HGNC.
Astrotactin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASTN2
Synonyms (NCBI Gene) Gene synonyms aliases
bA67K19.1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612856 17021 ENSG00000148219
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Autism Spectrum Disorder autism spectrum disorder N/A N/A GenCC
Bipolar Disorder Bipolar I disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anhedonia Associate 34440368
Anxiety Associate 24381304
Attention Deficit Disorder with Hyperactivity Associate 24381304
Autism Spectrum Disorder Associate 24381304, 30392976
Autistic Disorder Associate 19404257
Bipolar Disorder Associate 35667888
Cognition Disorders Associate 22504421, 25351777
Dementia Associate 22504421
Developmental Disabilities Associate 24381304
Endometriosis Associate 25083881