mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for HSDL2
Gene summary
Basic gene Info.Gene symbolHSDL2
Gene namehydroxysteroid dehydrogenase like 2
CytomapUCSC genome browser: 9q32
Type of geneprotein-coding
Descriptionhydroxysteroid dehydrogenase-like protein 2short chain dehydrogenase/reductase family 13C, member 1
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000119471
HPRD : 13679
Vega : OTTHUMG00000020504
ProteinUniProt: Q6YN16
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HSDL2
BioGPS: 84263
PathwayNCI Pathway Interaction Database: HSDL2
Pathway Commons: HSDL2
ContextiHOP: HSDL2
ligand binding site mutation search in PubMed: HSDL2
UCL Cancer Institute: HSDL2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

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
LBSAAchange of nsSNVCancer type# samples
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.

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of HSDL2 and the right PPI network was created from samples without mutations in the LBS of HSDL2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for HSDL2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0023903Liver Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HSDL2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of HSDL2
Multiple alignments for Q6YN16 in multiple species
LBSAA sequence# speciesSpecies
A102ILVNNASAISL4Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus
A102ILVNNASAINL1Danio rerio
A200LWPKTAIHTAA2Homo sapiens, Xenopus tropicalis
A200LWPRTAIHTAA2Rattus norvegicus, Bos taurus
A200LWPKTAIQTAA1Danio rerio
A205AIHTAAMDMLG4Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus
A205AIQTAAMDMLG1Danio rerio
A41NIVIAAKTAQP1Homo sapiens
A41NVVIAAKTADP1Danio rerio
A41NVVIAAKTAEA1Xenopus tropicalis
A41NIVIAAKTTQR1Rattus norvegicus
D271HPLLPDFFLDE3Xenopus tropicalis, Rattus norvegicus, Bos taurus
D271HPLQPDFFLDE1Homo sapiens
D271HPLLPDFFLDG1Danio rerio
D74LPCIVDVRDEQ1Homo sapiens
D74LPCIVDVRDEK1Danio rerio
D74LPCIVDVRDEN1Xenopus tropicalis
D74LPCVVDVRDEQ1Rattus norvegicus
G17TVFITGASRGI3Homo sapiens, Rattus norvegicus, Bos taurus
G17TIFITGASRGI1Danio rerio
G17TLFITGASRGI1Xenopus tropicalis
G21TGASRGIGKAI5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus
I151AHILNLSPPLN3Xenopus tropicalis, Rattus norvegicus, Bos taurus
I151AHILNISPPLN1Homo sapiens
I151PHILNLSPPLN1Danio rerio
I201WPKTAIHTAAM2Homo sapiens, Xenopus tropicalis
I201WPRTAIHTAAM2Rattus norvegicus, Bos taurus
I201WPKTAIQTAAM1Danio rerio
I22GASRGIGKAIA5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus
K116LDTPTKRLDLM1Homo sapiens
K116LQTPMKKADLM1Danio rerio
K116LETPMKKVDLM1Xenopus tropicalis
K116LETPTKRVDLM1Rattus norvegicus
K116LETPTKKVDLM1Bos taurus
K172AYTIAKYGMSM5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus
K42IVIAAKTAQPH1Homo sapiens
K42VVIAAKTADPH1Danio rerio
K42VVIAAKTAEAH1Xenopus tropicalis
K42IVIAAKTTQRH1Rattus norvegicus
L120TKRLDLMMNVN1Homo sapiens
L120MKKADLMLGIN1Danio rerio
L120MKKVDLMMGIN1Xenopus tropicalis
L120TKRVDLMMSVN1Rattus norvegicus
L120TKKVDLMMNVN1Bos taurus
M206IHTAAMDMLGG4Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus
M206IQTAAMDMLGG1Danio rerio
N101DILVNNASAIS4Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus
N101DILVNNASAIN1Danio rerio
R117DTPTKRLDLMM1Homo sapiens
R117QTPMKKADLML1Danio rerio
R117ETPMKKVDLMM1Xenopus tropicalis
R117ETPTKRVDLMM1Rattus norvegicus
R117ETPTKKVDLMM1Bos taurus
R20ITGASRGIGKA5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus
R76CIVDVRDEQQI1Homo sapiens
R76CIVDVRDEKQI1Danio rerio
R76CIVDVRDENQI1Xenopus tropicalis
R76CVVDVRDEQQI1Rattus norvegicus
S103LVNNASAISLT4Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Bos taurus
S103LVNNASAINLT1Danio rerio
S19FITGASRGIGK5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Bos taurus
T203KTAIHTAAMDM2Homo sapiens, Xenopus tropicalis
T203RTAIHTAAMDM2Rattus norvegicus, Bos taurus
T203KTAIQTAAMDM1Danio rerio
T43VIAAKTAQPHP1Homo sapiens
T43VIAAKTADPHP1Danio rerio
T43VIAAKTAEAHP1Xenopus tropicalis
T43VIAAKTTQRHP1Rattus norvegicus
V124DLMMNVNTRGT2Homo sapiens, Bos taurus
V124DLMLGINLRGT1Danio rerio
V124DLMMGINTRGT1Xenopus tropicalis
V124DLMMSVNTRGT1Rattus norvegicus
V73ALPCIVDVRDE4Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus
V73ALPCVVDVRDE1Rattus norvegicus
V75PCIVDVRDEQQ1Homo sapiens
V75PCIVDVRDEKQ1Danio rerio
V75PCIVDVRDENQ1Xenopus tropicalis
V75PCVVDVRDEQQ1Rattus norvegicus
W196AVNALWPKTAI3Homo sapiens, Danio rerio, Xenopus tropicalis
W196AVNALWPRTAI2Rattus norvegicus, Bos taurus
Y168KQHCAYTIAKY3Homo sapiens, Rattus norvegicus, Bos taurus
Y168KNHTAYTIAKY1Danio rerio
Y168KNHCAYTIAKY1Xenopus tropicalis

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