• Gene id: 23245

Gene Summary

• Gene Symbol: ASTN2   Gene   UCSC   Ensembl
• Aliases: bA67K19.1
• Gene name: astrotactin 2
• Alternate names: astrotactin-2,
• Gene location: 9q33.1 (64163021: 64155816)     Exons: 5     NC_000015.10
• 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
• OMIM: 612856

Protein Summary

• Protein general information: O75129  
  • Name: Astrotactin 2
  • Length: 1339  
  • Mass: 148243
• Sequence:

  MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPA
  LRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMS
  GTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTV
  ALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEE
  PPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFRANTPIEIGQLQPPLR
  STSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMV
  CGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQL
  CDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKS
  FVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVD
  SSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSC
  LMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQC
  RGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHY
  GSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEI
  RCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCD
  LSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFA
  DDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEE
  IADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSS
  HCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR

• Structural information:
  • Protein Domains: (510..55-)
    (/note="EGF-like-1)
    (651..69-)
    (/note="EGF-like-2)
    (699..75-)
    (/note="EGF-like-3)
    (1065..118-)
    (/note="Fibronectin-type-III")
  • Interpro: IPR040685  IPR040510  IPR026995  IPR036116  IPR020864  
  • PDB: 5J67 5J68 5J69
  • PDBsum: 5J67 5J68 5J69
  • STRING: ENSP00000354504
• Other Databases: GeneCards:  ASTN2  Malacards:  ASTN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001764	neuron migration	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0007158	neuron cell-cell adhesion	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0043533	inositol 1,3,4,5 tetrakisphosphate binding	IBA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0043533	inositol 1,3,4,5 tetrakisphosphate binding	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0060187	cell pole	IEA	cellular component
GO:0048105	establishment of body hair planar orientation	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:2000009	negative regulation of protein localization to cell surface	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray