mutLBSgeneDB |
Gene summary for HSDL2 |
Gene summary |
Basic gene Info. | Gene symbol | HSDL2 |
Gene name | hydroxysteroid dehydrogenase like 2 | |
Synonyms | C9orf99|SDR13C1 | |
Cytomap | UCSC genome browser: 9q32 | |
Type of gene | protein-coding | |
RefGenes | NM_001195822.1, NM_032303.4,NR_036651.1, | |
Description | hydroxysteroid dehydrogenase-like protein 2short chain dehydrogenase/reductase family 13C, member 1 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000119471 | ||
HPRD : 13679 | ||
Vega : OTTHUMG00000020504 | ||
Protein | UniProt: Q6YN16 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HSDL2 | |
BioGPS: 84263 | ||
Pathway | NCI Pathway Interaction Database: HSDL2 | |
KEGG: HSDL2 | ||
REACTOME: HSDL2 | ||
Pathway Commons: HSDL2 | ||
Context | iHOP: HSDL2 | |
ligand binding site mutation search in PubMed: HSDL2 | ||
UCL Cancer Institute: HSDL2 | ||
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 HSDL2 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | L120 | L120V | LUAD | 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 HSDL2 |
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 |
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 | L120 | L120V | -1.5733338 |
(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 HSDL2 from PDB |
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Differential gene expression and gene-gene network for HSDL2 |
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 HSDL2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0023903 | Liver Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HSDL2 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of HSDL2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAP | NADP ZWITTERION | 3kvo | A | L120 | NAP | NADP ZWITTERION | 3kvo | B | L120 |
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Conservation information for LBS of HSDL2 |
Multiple alignments for Q6YN16 in multiple species |
LBS | AA sequence | # species | Species | A102 | ILVNNASAISL | 4 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus | A102 | ILVNNASAINL | 1 | Danio rerio | A200 | LWPKTAIHTAA | 2 | Homo sapiens, Xenopus tropicalis | A200 | LWPRTAIHTAA | 2 | Rattus norvegicus, Bos taurus | A200 | LWPKTAIQTAA | 1 | Danio rerio | A205 | AIHTAAMDMLG | 4 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus | A205 | AIQTAAMDMLG | 1 | Danio rerio | A41 | NIVIAAKTAQP | 1 | Homo sapiens | A41 | NVVIAAKTADP | 1 | Danio rerio | A41 | NVVIAAKTAEA | 1 | Xenopus tropicalis | A41 | NIVIAAKTTQR | 1 | Rattus norvegicus | A41 | NIVIAAKTAQA | 1 | Bos taurus | D271 | HPLLPDFFLDE | 3 | Xenopus tropicalis, Rattus norvegicus, Bos taurus | D271 | HPLQPDFFLDE | 1 | Homo sapiens | D271 | HPLLPDFFLDG | 1 | Danio rerio | D74 | LPCIVDVRDEQ | 1 | Homo sapiens | D74 | LPCIVDVRDEK | 1 | Danio rerio | D74 | LPCIVDVRDEN | 1 | Xenopus tropicalis | D74 | LPCVVDVRDEQ | 1 | Rattus norvegicus | D74 | LPCIVDVRDEE | 1 | Bos taurus | G17 | TVFITGASRGI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | G17 | TIFITGASRGI | 1 | Danio rerio | G17 | TLFITGASRGI | 1 | Xenopus tropicalis | G21 | TGASRGIGKAI | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus | I151 | AHILNLSPPLN | 3 | Xenopus tropicalis, Rattus norvegicus, Bos taurus | I151 | AHILNISPPLN | 1 | Homo sapiens | I151 | PHILNLSPPLN | 1 | Danio rerio | I201 | WPKTAIHTAAM | 2 | Homo sapiens, Xenopus tropicalis | I201 | WPRTAIHTAAM | 2 | Rattus norvegicus, Bos taurus | I201 | WPKTAIQTAAM | 1 | Danio rerio | I22 | GASRGIGKAIA | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus | K116 | LDTPTKRLDLM | 1 | Homo sapiens | K116 | LQTPMKKADLM | 1 | Danio rerio | K116 | LETPMKKVDLM | 1 | Xenopus tropicalis | K116 | LETPTKRVDLM | 1 | Rattus norvegicus | K116 | LETPTKKVDLM | 1 | Bos taurus | K172 | AYTIAKYGMSM | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus | K42 | IVIAAKTAQPH | 1 | Homo sapiens | K42 | VVIAAKTADPH | 1 | Danio rerio | K42 | VVIAAKTAEAH | 1 | Xenopus tropicalis | K42 | IVIAAKTTQRH | 1 | Rattus norvegicus | K42 | IVIAAKTAQAH | 1 | Bos taurus | L120 | TKRLDLMMNVN | 1 | Homo sapiens | L120 | MKKADLMLGIN | 1 | Danio rerio | L120 | MKKVDLMMGIN | 1 | Xenopus tropicalis | L120 | TKRVDLMMSVN | 1 | Rattus norvegicus | L120 | TKKVDLMMNVN | 1 | Bos taurus | M206 | IHTAAMDMLGG | 4 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus | M206 | IQTAAMDMLGG | 1 | Danio rerio | N101 | DILVNNASAIS | 4 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus | N101 | DILVNNASAIN | 1 | Danio rerio | R117 | DTPTKRLDLMM | 1 | Homo sapiens | R117 | QTPMKKADLML | 1 | Danio rerio | R117 | ETPMKKVDLMM | 1 | Xenopus tropicalis | R117 | ETPTKRVDLMM | 1 | Rattus norvegicus | R117 | ETPTKKVDLMM | 1 | Bos taurus | R20 | ITGASRGIGKA | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus | R76 | CIVDVRDEQQI | 1 | Homo sapiens | R76 | CIVDVRDEKQI | 1 | Danio rerio | R76 | CIVDVRDENQI | 1 | Xenopus tropicalis | R76 | CVVDVRDEQQI | 1 | Rattus norvegicus | R76 | CIVDVRDEEQI | 1 | Bos taurus | S103 | LVNNASAISLT | 4 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus | S103 | LVNNASAINLT | 1 | Danio rerio | S19 | FITGASRGIGK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus | T203 | KTAIHTAAMDM | 2 | Homo sapiens, Xenopus tropicalis | T203 | RTAIHTAAMDM | 2 | Rattus norvegicus, Bos taurus | T203 | KTAIQTAAMDM | 1 | Danio rerio | T43 | VIAAKTAQPHP | 1 | Homo sapiens | T43 | VIAAKTADPHP | 1 | Danio rerio | T43 | VIAAKTAEAHP | 1 | Xenopus tropicalis | T43 | VIAAKTTQRHP | 1 | Rattus norvegicus | T43 | VIAAKTAQAHP | 1 | Bos taurus | V124 | DLMMNVNTRGT | 2 | Homo sapiens, Bos taurus | V124 | DLMLGINLRGT | 1 | Danio rerio | V124 | DLMMGINTRGT | 1 | Xenopus tropicalis | V124 | DLMMSVNTRGT | 1 | Rattus norvegicus | V73 | ALPCIVDVRDE | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus | V73 | ALPCVVDVRDE | 1 | Rattus norvegicus | V75 | PCIVDVRDEQQ | 1 | Homo sapiens | V75 | PCIVDVRDEKQ | 1 | Danio rerio | V75 | PCIVDVRDENQ | 1 | Xenopus tropicalis | V75 | PCVVDVRDEQQ | 1 | Rattus norvegicus | V75 | PCIVDVRDEEQ | 1 | Bos taurus | W196 | AVNALWPKTAI | 3 | Homo sapiens, Danio rerio, Xenopus tropicalis | W196 | AVNALWPRTAI | 2 | Rattus norvegicus, Bos taurus | Y168 | KQHCAYTIAKY | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Y168 | KNHTAYTIAKY | 1 | Danio rerio | Y168 | KNHCAYTIAKY | 1 | Xenopus tropicalis |
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