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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:NR5A2

Protein Summary

check button Gene summary
Gene name: NR5A2
ASpdb.0 ID: 2494
Gene
Gene symbol

NR5A2

Gene ID

2494

Gene namenuclear receptor subfamily 5 group A member 2
SynonymsB1F|B1F2|CPF|FTF|FTZ-F1|FTZ-F1beta|LRH-1|LRH1|hB1F-2
Cytomap

1q32.1

Type of geneprotein-coding
Descriptionnuclear receptor subfamily 5 group A member 2CYP7A promoter-binding factorb1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virusfetoprotein-alpha 1 (AFP) transcription factorhepatocytic transcription factor
Modification date20240403
UniProtAcc

O00482


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneNR5A2

GO:0000976

transcription cis-regulatory region binding

15205472

GeneNR5A2

GO:0003677

DNA binding

16289203

GeneNR5A2

GO:0003700

DNA-binding transcription factor activity

15205472|15723037|16289203

GeneNR5A2

GO:0004879

nuclear receptor activity

15205472

GeneNR5A2

GO:0005543

phospholipid binding

15723037

GeneNR5A2

GO:0005634

nucleus

15143342|15205472

GeneNR5A2

GO:0005737

cytoplasm

15205472

GeneNR5A2

GO:0006355

regulation of DNA-templated transcription

15723037

GeneNR5A2

GO:0043565

sequence-specific DNA binding

16289203

GeneNR5A2

GO:0045070

positive regulation of viral genome replication

19264593

GeneNR5A2

GO:0045893

positive regulation of DNA-templated transcription

15143342

GeneNR5A2

GO:0045944

positive regulation of transcription by RNA polymerase II

15205472

GeneNR5A2

GO:1990837

sequence-specific double-stranded DNA binding

28473536



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
O00482-1O00482-1_4rwv_A.pdb4RWVX-ray1.86A297539

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
O00482NR5A2O00482-1O00482-25414952267Deletionnonenone2121
O00482NR5A2O00482-1O00482-3541369199370Deletionnonenone198198
O00482NR5A2O00482-1O00482-4541469172Deletionnonenone00

check buttonMultiple sequence alignment of our canonical and alternatively spliced NR5A2

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of NR5A2
UniProt-idENSGENSTENSP
O00482-1ENSG00000116833.14ENST00000367362.8ENSP00000356331.3
O00482-2ENSG00000116833.14ENST00000236914.7ENSP00000236914.3
O00482-4ENSG00000116833.14ENST00000544748.5ENSP00000439116.1

UniProt-idNM IDNP ID
O00482-1NM_205860.2NP_995582.1
O00482-2NM_003822.4NP_003813.1
O00482-4NM_001276464.1NP_001263393.1
O00482-4XM_005245062.3XP_005245119.1

check buttonAmino acid sequences of our canonical and alternatively spliced NR5A2
accession_idProtein sequence
O00482-1MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCG
DKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQ
QKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIK
SEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWA
RSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVC
LKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKR
O00482-2MSSNSDTGDLQESLKHGLTPIVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRK
RCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLN
HAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEP
QVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLV
TGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKF
O00482-3MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCG
DKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQ
QKKALIRANGLKLEAMSQVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQ
FDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLL
O00482-4MVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMR
GGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPH
GSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTF
GLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQ
ELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHL

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
NR5A2 (go to UniProt):O00482

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
O00482Domain300539Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189Type=Deletion;Start=199;End=370
O00482Region135Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=22;End=67
O00482Region135Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=1;End=72


Gene Isoform Structures and Expression Levels for NR5A2

check buttonGene structures of our canonical and alternative spliced genes of NR5A2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of NR5A2

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 O00482-1
3D view using mol* of O00482-2
3D view using mol* of O00482-3
3D view using mol* of O00482-4


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 O00482-1
all structure
pLDDT distribution across the protein length of O00482-2
all structure
pLDDT distribution across the protein length of O00482-3
all structure
pLDDT distribution across the protein length of O00482-4
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 O00482-1
all structure
Ramachandran plot of O00482-2
all structure
Ramachandran plot of O00482-3
all structure
Ramachandran plot of O00482-4
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
O00482-11.1792831.25572.4670.4250.8351.0412.6650.5864.5470.6277,10,11,14,15,323,326,327,330,341,342,344,345,346,
348,349,352,382,383,386,387,389,390,391,393,394,40
3,404,405,406,407,409,410,411,412,413,415,416,419,
424,427,428,431,432,509,513,514,516,517,532
O00482-21.2292241.31540.9110.3580.881.0982.9670.4846.1350.508277,280,281,284,295,296,298,299,300,302,303,306,33
6,337,340,341,343,344,347,348,357,358,359,360,361,
363,365,369,370,378,381,382,385,386,463,464,467,46
8,470,471,486
O00482-31.0672751.134855.4420.5640.6960.8681.1230.6851.6391.43773,74,75,76,77,78,79,81,82,84,176,178,179,180,181,
182,183,185,186,187,189,190,191,192,193,194,196,20
2,205,206,274,275,277,278,281,284,301,304,305,307,
308,309,311,312,315,316
O00482-41.1742771.249556.0030.3780.8221.052.6080.5654.6120.592246,251,254,255,258,268,269,270,272,273,274,276,27
7,280,310,311,314,315,317,318,321,331,333,334,335,
337,339,343,344,347,348,349,352,355,356,359,437,43
8,441,442,444,445,448,460

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 O00482-1_O00482-1_4rwv_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 O00482-1_4rwv_A_O00482-2.pdb
3D view using mol* of O00482-1_4rwv_A_O00482-3.pdb
3D view using mol* of O00482-1_4rwv_A_O00482-4.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 O00482-1_O00482-2.pdb
3D view using mol* of O00482-1_O00482-3.pdb
3D view using mol* of O00482-1_O00482-4.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/O00482-1_vs_O00482-2.png
all structure<
./stats/secondary_structure/figure/O00482-1_vs_O00482-3.png
all structure<
./stats/secondary_structure/figure/O00482-1_vs_O00482-4.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/O00482-1_vs_O00482-2.png
all structure<
./stats/relative_asa/O00482-1_vs_O00482-3.png
all structure<
./stats/relative_asa/O00482-1_vs_O00482-4.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 NR5A2


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

Related Diseases to NR5A2


check button Previous studies relating to the alternative splicing of NR5A2 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in NR5A2


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