mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 IGHMBP2
Gene summary
Basic gene Info.Gene symbolIGHMBP2
Gene nameimmunoglobulin mu binding protein 2
CytomapUCSC genome browser: 11q13.3
Type of geneprotein-coding
DescriptionATP-dependent helicase IGHMBP2DNA-binding protein SMUBP-2GF-1cardiac transcription factor 1glial factor 1immunoglobulin mu-binding protein 2zinc finger, AN1-type domain 7
Modification date20141207
dbXrefs MIM : 600502
Ensembl : ENSG00000132740
HPRD : 02736
Vega : OTTHUMG00000167894
ProteinUniProt: P38935
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IGHMBP2
BioGPS: 3508
PathwayNCI Pathway Interaction Database: IGHMBP2
Pathway Commons: IGHMBP2
ContextiHOP: IGHMBP2
ligand binding site mutation search in PubMed: IGHMBP2
UCL Cancer Institute: IGHMBP2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006200ATP catabolic process19158098
GO:0032508DNA duplex unwinding19158098
GO:0051260protein homooligomerization19299493

Ligand binding site mutations for IGHMBP2

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 IGHMBP2
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 IGHMBP2 from PDB

Differential gene expression and gene-gene network for IGHMBP2
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 IGHMBP2 and the right PPI network was created from samples without mutations in the LBS of IGHMBP2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for IGHMBP2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1858517Spinal muscular atrophy with respiratory distress 121AlteredExpression, Biomarker, GeneticVariation
umls:C0043116Werdnig-Hoffmann Disease3Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

Pharmacological information for IGHMBP2
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 IGHMBP2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4b3gBI88 P243 Q507 G589 F590
NUCNucleic Acids4b3gAI88 R147 P243 H267 Q507 G589 F590

Conservation information for LBS of IGHMBP2
Multiple alignments for P38935 in multiple species
LBSAA sequence# speciesSpecies
D565EIKSVDGFQGR2Homo sapiens, Rattus norvegicus
D565EISTVDGFQGR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D565EMGSVDKVQGR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D87SFTSGDIVGLY2Homo sapiens, Rattus norvegicus
D87DIKVGDIVLVR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D87SFSPGDVVSIR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E24LERDAEVEERR2Homo sapiens, Rattus norvegicus
E24HEREQDIQTTS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E24EAQKSEVDETE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E763-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E763VHQIAEEHGLR1Homo sapiens
E763VHQLAEEFGLK1Rattus norvegicus
F590KGEVGFLAEDR2Homo sapiens, Rattus norvegicus
F590KFEVGFLKEER1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F590VREVGFLAEKR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G589RKGEVGFLAED2Homo sapiens, Rattus norvegicus
G589EKFEVGFLKEE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G589DVREVGFLAEK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G86NSFTSGDIVGL2Homo sapiens, Rattus norvegicus
G86GDIKVGDIVLV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G86NSFSPGDVVSI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H267ILRLGHPARLL2Homo sapiens, Rattus norvegicus
H267LLRIGHPARLL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H267MVRLGHPARLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H411PTTVSH--KAA2Homo sapiens, Rattus norvegicus
H411PTIKTEDDKNV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H411PNVQSK--RPY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H759-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H759DRLRVHQIAEE1Homo sapiens
H759DRLRVHQLAEE1Rattus norvegicus
H769-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H769EHGLRHDSSGE1Homo sapiens
H769EFGLKHDSTGE1Rattus norvegicus
I105QLATGILTRVT1Homo sapiens
I105AECSGVVYKMS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I105ISVEGVVTRVH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I105QLATGVLTRIT1Rattus norvegicus
I88FTSGDIVGLYD2Homo sapiens, Rattus norvegicus
I88IKVGDIVLVRP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I88FSPGDVVSIRQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L756-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L756NSHDRLRVHQI1Homo sapiens
L756SSHDRLRVHQL1Rattus norvegicus
N141LLKLANDVTYR1Homo sapiens
N141ILKTTNVVTYN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N141VVKLVNRVTYE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N141LLKLANDVTYK1Rattus norvegicus
N245CCAPSNIAVDN2Homo sapiens, Rattus norvegicus
N245ICGPSNISVDT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N245VCGASNLAVDN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N542VVSPYNLQVDL1Homo sapiens
N542VISPYNAQVSH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N542VVTPYNAQVAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N542VIAPYNLQVDL1Rattus norvegicus
P243VLCCAPSNIAV2Homo sapiens, Rattus norvegicus
P243ILICGPSNISV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P243ILVCGASNLAV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q507EEEDEQ-----1Homo sapiens
Q507ADEATI---LG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q507RSEDMQNFYQD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q507EEEDSQ-----1Rattus norvegicus
Q568SVDGFQGREKE2Homo sapiens, Rattus norvegicus
Q568TVDGFQGREKD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q568SVDKVQGREKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q760-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q760RLRVHQIAEEH1Homo sapiens
Q760RLRVHQLAEEF1Rattus norvegicus
R147DVTYRRLKKAL1Homo sapiens
R147VVTYNRMESTM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R147RVTYERMRHTM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R147DVTYKRLKKAL1Rattus norvegicus
R270LGHPARLLESI1Homo sapiens
R270IGHPARLLDSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R270LGHPARLLPSI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R270LGHPARLLESV1Rattus norvegicus
R755-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R755LNSHDRLRVHQ1Homo sapiens
R755LSSHDRLRVHQ1Rattus norvegicus
R778-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R778GEGKRRFITVS1Homo sapiens
R778GEGKARHITVS1Rattus norvegicus
S244LCCAPSNIAVD2Homo sapiens, Rattus norvegicus
S244LICGPSNISVD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S244LVCGASNLAVD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S508-----SKGNPG2Homo sapiens, Rattus norvegicus
S508---LGSKYNEG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S508NFYQDSKSNHW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S563ELEIKSVDGFQ2Homo sapiens, Rattus norvegicus
S563DIEISTVDGFQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S563EVEMGSVDKVQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S752-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S752PPSLNSHDRLR1Homo sapiens
S752PTSLSSHDRLR1Rattus norvegicus
S771-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S771GLRHDSSGEGK1Homo sapiens
S771GLKHDSTGEGK1Rattus norvegicus
T144LANDVTYRRLK1Homo sapiens
T144TTNVVTYNRME1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T144LVNRVTYERMR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T144LANDVTYKRLK1Rattus norvegicus
T351NVVLATNTGAS1Homo sapiens
T351RIVVTTLHGSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T351KVVFCTLHGAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T351DVVLATNTGAS1Rattus norvegicus
T353VLATNTGASAD1Homo sapiens
T353VVTTLHGSSSR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T353VFCTLHGAGSR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T353VLATNTGASTD1Rattus norvegicus
T407KQLPPTTVSH-2Homo sapiens, Rattus norvegicus
T407KQLPPTIKTED1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T407MQLSPNVQSK-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V143KLANDVTYRRL1Homo sapiens
V143KTTNVVTYNRM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V143KLVNRVTYERM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V143KLANDVTYKRL1Rattus norvegicus
Y541AVVSPYNLQVD1Homo sapiens
Y541GVISPYNAQVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y541AVVTPYNAQVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y541AVIAPYNLQVD1Rattus norvegicus

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas