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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
42
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56283051 RCV005936977
ASTN2-related disorder Uncertain significance; Likely benign; Benign rs756615264, rs766629321, rs767775629, rs138836456, rs113540918, rs10983437, rs72765708, rs768754378, rs371054320, rs56283051, rs750505669, rs74790727, rs751633983, rs143087005, rs117087850
View all (14 more)
RCV003400487
RCV003404403
RCV003404428
RCV003909419
RCV003914693
RCV003974596
RCV003979579
RCV003912073
RCV003912088
RCV003916832
RCV003974061
RCV003977394
RCV003897234
RCV003909568
RCV003944208
RCV003961564
RCV003914637
RCV003927157
RCV003939529
RCV003949846
RCV003939325
RCV003949456
RCV003926891
RCV003931915
RCV003903262
RCV003955811
RCV003940373
RCV003920784
RCV003925818
Cervical cancer Benign rs56283051 RCV005936979
Familial cancer of breast Benign rs3818503 RCV005907723
Associations from Text MiningDisease 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