Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 23245
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ASTN2   Gene   UCSC   Ensembl
Aliases bA67K19.1
Gene name astrotactin 2
Alternate names astrotactin-2, bA264C15.1,
Gene location 9q33.1 (117415038: 116425224)     Exons: 24     NC_000009.12
Gene summary(Entrez) 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]
OMIM 612856

SNPs

rs4837864

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.116782154T>C
NC_000009.11   g.119544433T>C
NC_000009.12   g.116782154T>C
NG_021409.1   g.637885A>G
NM_014010.4   c.2243+23478A>G

Protein Summary

Protein general information O75129  

Name: Astrotactin 2

Length: 1339  Mass: 148,243

Sequence MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPA
LRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMS
GTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTV
ALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEE
PPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFRANTPIEIGQLQPPLR
STSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMV
CGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQL
CDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKS
FVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVD
SSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSC
LMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQC
RGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHY
GSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEI
RCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCD
LSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFA
DDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEE
IADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSS
HCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR
Structural information
Protein Domains
EGF-like (510-550)
EGF-like (651-695)
EGF-like (699-751)
Fibronectin (1065-1188)
Interpro:  IPR011042 IPR026995 IPR003961 IPR013783 IPR020864

Pfam:  
PF01823

PDB:  
5J67 5J68 5J69
PDBsum:   5J67 5J68 5J69
STRING:   ENSP00000354504;
Other Databases GeneCards:  ASTN2;  Malacards:  ASTN2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005768 endosome
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0060187 cell pole
IEA cellular_component
GO:2000009 negative regulation of pr
otein localization to cel
l surface
IEA biological_process
GO:0005768 endosome
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0060187 cell pole
IEA cellular_component
GO:2000009 negative regulation of pr
otein localization to cel
l surface
IEA biological_process

Diseases

Associated diseases References
Attention-deficit hyperactivity disorder (ADHD) PMID: 18839057
Endometriosis PMID: 25083881
Psychiatric disorders PMID: 19086053
Schizophrenia PMID: 18940311
Stroke PMID: 19910543
Endometriosis INFBASE25083881

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25083881 Endometrio
sis
DPP6 (rs758316), ASTN2 (rs4837864) Europea
n
20, 100 (17,974
population con
trols, 2,126 su
rgically confir
med endometrios
is cases)
ASTN2
DPP6
Show abstract