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mutLBSgeneDB |
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| Gene summary for HDDC2 |
 Gene summary |
| Basic gene Info. | Gene symbol | HDDC2 |
| Gene name | HD domain containing 2 | |
| Synonyms | C6orf74|NS5ATP2|dJ167O5.2 | |
| Cytomap | UCSC genome browser: 6q13-q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016063.2, | |
| Description | HCV NS5A-transactivated protein 2HD domain-containing protein 2hepatitis C virus NS5A-transactivated protein 2 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| HPRD : 12897 | ||
| Protein | UniProt: Q7Z4H3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HDDC2 | |
| BioGPS: 51020 | ||
| Pathway | NCI Pathway Interaction Database: HDDC2 | |
| KEGG: HDDC2 | ||
| REACTOME: HDDC2 | ||
| Pathway Commons: HDDC2 | ||
| Context | iHOP: HDDC2 | |
| ligand binding site mutation search in PubMed: HDDC2 | ||
| UCL Cancer Institute: HDDC2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for HDDC2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D78 | D78N | COAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for HDDC2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | D78 | D78N | -0.88236903 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for HDDC2 from PDB |
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| Differential gene expression and gene-gene network for HDDC2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for HDDC2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HDDC2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HDDC2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 4dmb | A | D78 | MG | MAGNESIUM(2+) | 4dmb | B | D78 | MG | MAGNESIUM(2+) | 4l7w | A | D78 | MG | MAGNESIUM(2+) | 4l7w | A | D78 |
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| Conservation information for LBS of HDDC2 |
| Multiple alignments for Q7Z4H3 in multiple species |
| LBS | AA sequence | # species | Species | D143 | FVKQLDQCEMI | 3 | Homo sapiens, Bos taurus, Mus musculus | D143 | YVKDIDKYEML | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D143 | FVKDIDKFEMI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D143 | LVKELDNLEMI | 1 | Danio rerio | D78 | LALVHDMAECI | 3 | Homo sapiens, Bos taurus, Mus musculus | D78 | IALVHDIAESL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D78 | IAVVHDMAESI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D78 | LALVHDLAECI | 1 | Danio rerio | D86 | ECIVGDIAPAD | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | D86 | ESLVGDITPVD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D86 | ESIVGDITPHE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E81 | VHDMAECIVGD | 3 | Homo sapiens, Bos taurus, Mus musculus | E81 | VHDIAESLVGD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E81 | VHDMAESIVGD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E81 | VHDLAECIVGD | 1 | Danio rerio | H49 | ESVSDHMYRMA | 3 | Homo sapiens, Bos taurus, Mus musculus | H49 | ESISDHMYRLS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H49 | ESIADHMYRMG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H49 | ESVSDHMYRMS | 1 | Danio rerio | H77 | RLALVHDMAEC | 3 | Homo sapiens, Bos taurus, Mus musculus | H77 | RIALVHDIAES | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H77 | KIAVVHDMAES | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H77 | KLALVHDLAEC | 1 | Danio rerio | I87 | CIVGDIAPADN | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | I87 | SLVGDITPVDP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I87 | SIVGDITPHEN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K98 | IPKEEKHRREE | 2 | Homo sapiens, Mus musculus | K98 | IGKEEKHRREW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K98 | VSKEEKHRMES | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K98 | VSKAEKHRREK | 1 | Danio rerio | K98 | VPREEKHRREE | 1 | Bos taurus | M53 | DHMYRMAVMAM | 2 | Homo sapiens, Mus musculus | M53 | DHMYRLSIITM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M53 | DHMYRMGILTM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M53 | DHMYRMSMMAL | 1 | Danio rerio | M53 | DHMYRMAVMAL | 1 | Bos taurus | R32 | LKRVPRTGWVY | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | R32 | LKIQRRTGYLD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R32 | LKTTPRTGWLY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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