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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:EHMT2

Protein Summary

check button Gene summary
Gene name: EHMT2
ASpdb.0 ID: 10919
Gene
Gene symbol

EHMT2

Gene ID

10919

Gene nameeuchromatic histone lysine methyltransferase 2
SynonymsBAT8|C6orf30|G9A|GAT8|KMT1C|NG36
Cytomap

6p21.33

Type of geneprotein-coding
Descriptionhistone-lysine N-methyltransferase EHMT2G9A histone methyltransferaseH3-K9-HMTase 3HLA-B associated transcript 8ankyrin repeat-containing proteineuchromatic histone-lysine N-methyltransferase 2histone H3-K9 methyltransferase 3histone-lysine N-methy
Modification date20240411
UniProtAcc

Q96KQ7


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneEHMT2

GO:0000122

negative regulation of transcription by RNA polymerase II

19144645

GeneEHMT2

GO:0000785

chromatin

19144645

GeneEHMT2

GO:0005634

nucleus

19144645

GeneEHMT2

GO:0005654

nucleoplasm

-

GeneEHMT2

GO:0009267

cellular response to starvation

23918802

GeneEHMT2

GO:0016279

protein-lysine N-methyltransferase activity

19144645|20118233

GeneEHMT2

GO:0016607

nuclear speck

-

GeneEHMT2

GO:0018027

peptidyl-lysine dimethylation

20118233

GeneEHMT2

GO:1990841

promoter-specific chromatin binding

23918802



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q96KQ7-1Q96KQ7-1_5vsc_B.pdb5VSCX-ray1.4B9161190

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q96KQ7EHMT2Q96KQ7-1Q96KQ7-31210202195202SubstitutionPPVPEKRPVSGMGEMG195202
Q96KQ7EHMT2Q96KQ7-1Q96KQ7-312102022031210Deletionnonenone202202

check buttonMultiple sequence alignment of our canonical and alternatively spliced EHMT2

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of EHMT2
UniProt-idENSGENSTENSP
Q96KQ7-1ENSG00000204371.12ENST00000375537.9ENSP00000364687.4
Q96KQ7-1ENSG00000206376.9ENST00000383373.8ENSP00000372864.4
Q96KQ7-1ENSG00000227333.8ENST00000429506.6ENSP00000406110.2
Q96KQ7-1ENSG00000236759.7ENST00000450075.6ENSP00000392305.2

UniProt-idNM IDNP ID
Q96KQ7-1NM_006709.4NP_006700.3

check buttonAmino acid sequences of our canonical and alternatively spliced EHMT2
accession_idProtein sequence
Q96KQ7-1MAAAAGAAAAAAAEGEAPAEMGALLLEKETRGATERVHGSLGDTPRSEETLPKATPDSLEPAGPSSPASVTVTVGDEGADTPVGATPLIG
DESENLEGDGDLRGGRILLGHATKSFPSSPSKGGSCPSRAKMSMTGAGKSPPSVQSLAMRLLSMPGAQGAAAAGSEPPPATTSPEGQPKV
HRARKTMSKPGNGQPPVPEKRPPEIQHFRMSDDVHSLGKVTSDLAKRRKLNSGGGLSEELGSARRSGEVTLTKGDPGSLEEWETVVGDDF
SLYYDSYSVDERVDSDSKSEVEALTEQLSEEEEEEEEEEEEEEEEEEEEEEEEDEESGNQSDRSGSSGRRKAKKKWRKDSPWVKPSRKRR
KREPPRAKEPRGVNGVGSSGPSEYMEVPLGSLELPSEGTLSPNHAGVSNDTSSLETERGFEELPLCSCRMEAPKIDRISERAGHKCMATE
SVDGELSGCNAAILKRETMRPSSRVALMVLCETHRARMVKHHCCPGCGYFCTAGTFLECHPDFRVAHRFHKACVSQLNGMVFCPHCGEDA
SEAQEVTIPRGDGVTPPAGTAAPAPPPLSQDVPGRADTSQPSARMRGHGEPRRPPCDPLADTIDSSGPSLTLPNGGCLSAVGLPLGPGRE
ALEKALVIQESERRKKLRFHPRQLYLSVKQGELQKVILMLLDNLDPNFQSDQQSKRTPLHAAAQKGSVEICHVLLQAGANINAVDKQQRT
PLMEAVVNNHLEVARYMVQRGGCVYSKEEDGSTCLHHAAKIGNLEMVSLLLSTGQVDVNAQDSGGWTPIIWAAEHKHIEVIRMLLTRGAD
VTLTDNEENICLHWASFTGSAAIAEVLLNARCDLHAVNYHGDTPLHIAARESYHDCVLLFLSRGANPELRNKEGDTAWDLTPERSDVWFA
LQLNRKLRLGVGNRAIRTEKIICRDVARGYENVPIPCVNGVDGEPCPEDYKYISENCETSTMNIDRNITHLQHCTCVDDCSSSNCLCGQL
SIRCWYDKDGRLLQEFNKIEPPLIFECNQACSCWRNCKNRVVQSGIKVRLQLYRTAKMGWGVRALQTIPQGTFICEYVGELISDAEADVR
EDDSYLFDLDNKDGEVYCIDARYYGNISRFINHLCDPNIIPVRVFMLHQDLRFPRIAFFSSRDIRTGEELGFDYGDRFWDIKSKYFTCQC
Q96KQ7-3MAAAAGAAAAAAAEGEAPAEMGALLLEKETRGATERVHGSLGDTPRSEETLPKATPDSLEPAGPSSPASVTVTVGDEGADTPVGATPLIG
DESENLEGDGDLRGGRILLGHATKSFPSSPSKGGSCPSRAKMSMTGAGKSPPSVQSLAMRLLSMPGAQGAAAAGSEPPPATTSPEGQPKV

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
EHMT2 (go to UniProt):Q96KQ7

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
Q96KQ7Repeat649678Note=ANK 1Type=Deletion;Start=203;End=1210
Q96KQ7Repeat684713Note=ANK 2Type=Deletion;Start=203;End=1210
Q96KQ7Repeat717746Note=ANK 3Type=Deletion;Start=203;End=1210
Q96KQ7Repeat750780Note=ANK 4Type=Deletion;Start=203;End=1210
Q96KQ7Repeat784813Note=ANK 5Type=Deletion;Start=203;End=1210
Q96KQ7Repeat817846Note=ANK 6Type=Deletion;Start=203;End=1210
Q96KQ7Repeat850879Note=ANK 7Type=Deletion;Start=203;End=1210
Q96KQ7Domain9721035Note=Pre-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00157Type=Deletion;Start=203;End=1210
Q96KQ7Domain10381155Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190Type=Deletion;Start=203;End=1210
Q96KQ7Domain11641180Note=Post-SETType=Deletion;Start=203;End=1210
Q96KQ7Region1262Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=195;End=202
Q96KQ7Region1262Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210
Q96KQ7Region280386Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210
Q96KQ7Region548608Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210
Q96KQ7Region817819Note=Histone H3K9me binding;Ontology_term=ECO:0000250;evidence=ECO:0000250Type=Deletion;Start=203;End=1210
Q96KQ7Region10741093Note=Interaction with histone H3;Ontology_term=ECO:0000250;evidence=ECO:0000250Type=Deletion;Start=203;End=1210
Q96KQ7Region11541157Note=Interaction with histone H3;Ontology_term=ECO:0000250;evidence=ECO:0000250Type=Deletion;Start=203;End=1210
Q96KQ7Compositional bias202226Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=195;End=202
Q96KQ7Compositional bias202226Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210
Q96KQ7Compositional bias280295Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210
Q96KQ7Compositional bias296328Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210
Q96KQ7Compositional bias338365Note=Basic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=203;End=1210


Gene Isoform Structures and Expression Levels for EHMT2

check buttonGene structures of our canonical and alternative spliced genes of EHMT2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of EHMT2

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 Q96KQ7-1
3D view using mol* of Q96KQ7-3


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 Q96KQ7-1
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 Q96KQ7-1
all structure
Ramachandran plot of Q96KQ7-3
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
Q96KQ7-11.0172841.046776.5520.5840.7020.8930.3430.9670.3551.321944,947,949,1008,1009,1011,1013,1048,1049,1050,106
7,1074,1077,1078,1083,1084,1085,1086,1087,1088,108
9,1090,1091,1092,1096,1098,1102,1108,1109,1110,111
1,1112,1113,1117,1120,1121,1122,1123,1125,1131,113
4,1152,1153,1154,1155,1156,1157,1158,1159,1161,116
2,1166,1167,1168,1169,1170

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 Q96KQ7-1_Q96KQ7-1_5vsc_B.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 Q96KQ7-1_5vsc_B_Q96KQ7-3.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 Q96KQ7-1_Q96KQ7-3.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q96KQ7-1_vs_Q96KQ7-3.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q96KQ7-1_vs_Q96KQ7-3.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
Q96KQ7Region10741093Note=Interaction with histone H3;Ontology_term=ECO:0000250;evidence=ECO:0000250Type=Deletion;Start=203;End=1210
Q96KQ7Region11541157Note=Interaction with histone H3;Ontology_term=ECO:0000250;evidence=ECO:0000250Type=Deletion;Start=203;End=1210


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to EHMT2


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

Related Diseases to EHMT2


check button Previous studies relating to the alternative splicing of EHMT2 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in EHMT2


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