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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:ASTN2

Protein Summary

check button Gene summary
Gene name: ASTN2
ASpdb.0 ID: 23245
Gene
Gene symbol

ASTN2

Gene ID

23245

Gene nameastrotactin 2
SynonymsbA67K19.1
Cytomap

9q33.1

Type of geneprotein-coding
Descriptionastrotactin-2
Modification date20240411
UniProtAcc

O75129


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneASTN2

GO:0005509

calcium ion binding

-

GeneASTN2

GO:0043533

inositol 1,3,4,5 tetrakisphosphate binding

-



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
O75129-1O75129-1_5j67_A.pdb5J67X-ray3.16A7681339

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
O75129ASTN2O75129-1O75129-213391288339389Deletionnonenone338338
O75129ASTN2O75129-1O75129-413394401899Deletionnonenone00
O75129ASTN2O75129-1O75129-41339440900935SubstitutionYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKMNTLLCKGMFCLLSWEADSRGRLGEYTLQPLSLQTE136
O75129ASTN2O75129-1O75129-613393951948Deletionnonenone00
O75129ASTN2O75129-1O75129-6133939513341339SubstitutionGESKGRYLTLSKVSPF386395

check buttonMultiple sequence alignment of our canonical and alternatively spliced ASTN2

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ASTN2
UniProt-idENSGENSTENSP
O75129-1ENSG00000148219.18ENST00000313400.9ENSP00000314038.4
O75129-2ENSG00000148219.18ENST00000361209.6ENSP00000354504.2
O75129-4ENSG00000148219.18ENST00000288520.9ENSP00000288520.5
O75129-6ENSG00000148219.18ENST00000341734.8ENSP00000339925.4

UniProt-idNM IDNP ID
O75129-2NM_014010.4NP_054729.3
O75129-4NM_198186.3NP_937829.3
O75129-6NM_198188.2NP_937831.1

check buttonAmino acid sequences of our canonical and alternatively spliced ASTN2
accession_idProtein sequence
O75129-1MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGA
GAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSS
GQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRS
SRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFR
ANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMV
CGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYA
PDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVR
EEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTL
PLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQL
ADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHY
GSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLC
RRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSS
TVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLY
AVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGP
O75129-2MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGA
GAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSS
GQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRS
SRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKGGISFGRAKGTSGSEADDETQL
TFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYY
QINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQ
GLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVC
PEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFND
TLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRS
NLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPF
ITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGD
VIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSG
LGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMA
YNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWY
O75129-4MNTLLCKGMFCLLSWEADSRGRLGEYTLQPLSLQTEETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHL
CRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPS
STVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTL
YAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELG
O75129-6MPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSG
KGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDL
LSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQ
QMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGM

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
ASTN2 (go to UniProt):O75129

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
O75129Topological domain50206Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Deletion;Start=1;End=899
O75129Topological domain50206Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Deletion;Start=1;End=948
O75129Transmembrane207227Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=899
O75129Transmembrane207227Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=948
O75129Topological domain228434Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=339;End=389
O75129Topological domain228434Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=899
O75129Topological domain228434Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=948
O75129Transmembrane435455Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=899
O75129Transmembrane435455Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=948
O75129Topological domain4561339Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Deletion;Start=1;End=899
O75129Topological domain4561339Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Substitution;Start=900;End=935
O75129Topological domain4561339Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Deletion;Start=1;End=948
O75129Topological domain4561339Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Substitution;Start=1334;End=1339
O75129Domain510550Note=EGF-like 1Type=Deletion;Start=1;End=899
O75129Domain510550Note=EGF-like 1Type=Deletion;Start=1;End=948
O75129Domain651695Note=EGF-like 2Type=Deletion;Start=1;End=899
O75129Domain651695Note=EGF-like 2Type=Deletion;Start=1;End=948
O75129Domain699751Note=EGF-like 3Type=Deletion;Start=1;End=899
O75129Domain699751Note=EGF-like 3Type=Deletion;Start=1;End=948
O75129Region296316Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=899
O75129Region296316Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=948
O75129Region363408Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=339;End=389
O75129Region363408Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=899
O75129Region363408Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=948
O75129Compositional bias299316Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=899
O75129Compositional bias299316Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=948


Gene Isoform Structures and Expression Levels for ASTN2

check buttonGene structures of our canonical and alternative spliced genes of ASTN2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of ASTN2

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of O75129-1
3D view using mol* of O75129-2
3D view using mol* of O75129-4
3D view using mol* of O75129-6


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of O75129-1
all structure
pLDDT distribution across the protein length of O75129-2
all structure
pLDDT distribution across the protein length of O75129-4
all structure
pLDDT distribution across the protein length of O75129-6
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of O75129-1
all structure
Ramachandran plot of O75129-4
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
O75129-11.0291371.037306.6420.4750.7410.9720.3781.0670.3550.88870,71,72,73,74,119,120,121,122,135,137,138,139,140
,141,142,143,144,145,163,165,171,173,465,467,471,4
72
O75129-21.0321670.983497.6930.5530.7461.0610.3391.2420.2730.666781,782,783,791,792,793,794,796,797,798,799,800,80
2,872,873,1023,1024,1025,1026,1027,1028,1057,1113,
1134,1135,1136,1137,1138,1225,1234,1235,1236,1238,
1240,1242,1279,1280,1281,1282,1283,1284,1285,1286,
1287,1288
O75129-41.0171340.978470.5960.5560.7230.9080.1511.2140.1250.99619,20,21,22,23,26,178,179,180,181,288,289,290,291,
293,377,378,380,381,384,390,392,431,432,433,434,43
5,436,437,440
O75129-60.997891.007160.5240.4440.7440.9820.75910.7590.40898,99,100,101,106,112,115,147,148,149,225,226,227,
229

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of O75129-1_O75129-1_5j67_A.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of O75129-1_5j67_A_O75129-2.pdb
3D view using mol* of O75129-1_5j67_A_O75129-4.pdb
3D view using mol* of O75129-1_5j67_A_O75129-6.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of O75129-1_O75129-2.pdb
3D view using mol* of O75129-1_O75129-4.pdb
3D view using mol* of O75129-1_O75129-6.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/O75129-1_vs_O75129-2.png
all structure<
./stats/secondary_structure/figure/O75129-1_vs_O75129-4.png
all structure<
./stats/secondary_structure/figure/O75129-1_vs_O75129-6.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/O75129-1_vs_O75129-2.png
all structure<
./stats/relative_asa/O75129-1_vs_O75129-4.png
all structure<
./stats/relative_asa/O75129-1_vs_O75129-6.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to ASTN2


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions

Related Diseases to ASTN2


check button Previous studies relating to the alternative splicing of ASTN2 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in ASTN2


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance