mutLBSgeneDB

mutLBSgeneDB
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 IGHMBP2

Gene summary

Basic gene Info.	Gene symbol	IGHMBP2
	Gene name	immunoglobulin mu binding protein 2
	Synonyms	CATF1\|HCSA\|HMN6\|SMARD1\|SMUBP2\|ZFAND7
	Cytomap	UCSC genome browser: 11q13.3
	Type of gene	protein-coding
	RefGenes	NM_002180.2,
	Description	ATP-dependent helicase IGHMBP2DNA-binding protein SMUBP-2GF-1cardiac transcription factor 1glial factor 1immunoglobulin mu-binding protein 2zinc finger, AN1-type domain 7
	Modification date	20141207
dbXrefs	MIM : 600502
	HGNC : HGNC
	Ensembl : ENSG00000132740
	HPRD : 02736
	Vega : OTTHUMG00000167894
Protein	UniProt: P38935 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_IGHMBP2
	BioGPS: 3508
Pathway	NCI Pathway Interaction Database: IGHMBP2
	KEGG: IGHMBP2
	REACTOME: IGHMBP2
	Pathway Commons: IGHMBP2
Context	iHOP: IGHMBP2
	ligand binding site mutation search in PubMed: IGHMBP2
	UCL Cancer Institute: IGHMBP2
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
GO:0006200	ATP catabolic process	19158098
GO:0032508	DNA duplex unwinding	19158098
GO:0051260	protein homooligomerization	19299493

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Ligand binding site mutations for IGHMBP2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H267	G266E	BLCA	1
R147	R147Q	HNSC	1
R755	D754E	KIRC	1
Q507	Q507H	LUAD	1
F590	A592S	LUAD	1
P243	P243L	LUAD	1
G589	G589S	OV	1
Q507	E506K	OV	1
I88	G90D	STAD	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 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.

LBS	AAchange of nsSNV	Relative stability change
G589	G589S	0.32302747
Q507	Q507H	-1.4387378
R147	R147Q	-1.2584628
P243	P243L	-0.92836762
H267	G266E	-0.64104281
Q507	E506K	-0.62042159
I88	G90D	-0.47652711
F590	A592S	-0.44888513
R755	D754E	-0.11515037

(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

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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.

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Phenotype information for IGHMBP2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C1858517	Spinal muscular atrophy with respiratory distress 1	21	AlteredExpression, Biomarker, GeneticVariation
umls:C0043116	Werdnig-Hoffmann Disease	3	Biomarker, GeneticVariation
umls:C0031117	Peripheral Nervous System Diseases	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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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 status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IGHMBP2 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
NUC		Nucleic Acids	4b3g	B	I88 P243 Q507 G589 F590
NUC		Nucleic Acids	4b3g	A	I88 R147 P243 H267 Q507 G589 F590
DGP		2'-DEOXYGUANOSINE-5'-MONOPHOSPHATE	2lrr	A	R755

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Conservation information for LBS of IGHMBP2

Multiple alignments for P38935 in multiple species

LBS	AA sequence	# species	Species
D565	EIKSVDGFQGR	2	Homo sapiens, Rattus norvegicus
D565	EISTVDGFQGR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D565	EMGSVDKVQGR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D87	SFTSGDIVGLY	2	Homo sapiens, Rattus norvegicus
D87	DIKVGDIVLVR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D87	SFSPGDVVSIR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E24	LERDAEVEERR	2	Homo sapiens, Rattus norvegicus
E24	HEREQDIQTTS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E24	EAQKSEVDETE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E763	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E763	VHQIAEEHGLR	1	Homo sapiens
E763	VHQLAEEFGLK	1	Rattus norvegicus
F590	KGEVGFLAEDR	2	Homo sapiens, Rattus norvegicus
F590	KFEVGFLKEER	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F590	VREVGFLAEKR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G589	RKGEVGFLAED	2	Homo sapiens, Rattus norvegicus
G589	EKFEVGFLKEE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G589	DVREVGFLAEK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G86	NSFTSGDIVGL	2	Homo sapiens, Rattus norvegicus
G86	GDIKVGDIVLV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G86	NSFSPGDVVSI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H267	ILRLGHPARLL	2	Homo sapiens, Rattus norvegicus
H267	LLRIGHPARLL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H267	MVRLGHPARLL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H411	PTTVSH--KAA	2	Homo sapiens, Rattus norvegicus
H411	PTIKTEDDKNV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H411	PNVQSK--RPY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H759	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H759	DRLRVHQIAEE	1	Homo sapiens
H759	DRLRVHQLAEE	1	Rattus norvegicus
H769	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H769	EHGLRHDSSGE	1	Homo sapiens
H769	EFGLKHDSTGE	1	Rattus norvegicus
I105	QLATGILTRVT	1	Homo sapiens
I105	AECSGVVYKMS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I105	ISVEGVVTRVH	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I105	QLATGVLTRIT	1	Rattus norvegicus
I88	FTSGDIVGLYD	2	Homo sapiens, Rattus norvegicus
I88	IKVGDIVLVRP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I88	FSPGDVVSIRQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L756	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L756	NSHDRLRVHQI	1	Homo sapiens
L756	SSHDRLRVHQL	1	Rattus norvegicus
N141	LLKLANDVTYR	1	Homo sapiens
N141	ILKTTNVVTYN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N141	VVKLVNRVTYE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N141	LLKLANDVTYK	1	Rattus norvegicus
N245	CCAPSNIAVDN	2	Homo sapiens, Rattus norvegicus
N245	ICGPSNISVDT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N245	VCGASNLAVDN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N542	VVSPYNLQVDL	1	Homo sapiens
N542	VISPYNAQVSH	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N542	VVTPYNAQVAL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N542	VIAPYNLQVDL	1	Rattus norvegicus
P243	VLCCAPSNIAV	2	Homo sapiens, Rattus norvegicus
P243	ILICGPSNISV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P243	ILVCGASNLAV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q507	EEEDEQ-----	1	Homo sapiens
Q507	ADEATI---LG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q507	RSEDMQNFYQD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q507	EEEDSQ-----	1	Rattus norvegicus
Q568	SVDGFQGREKE	2	Homo sapiens, Rattus norvegicus
Q568	TVDGFQGREKD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q568	SVDKVQGREKE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q760	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q760	RLRVHQIAEEH	1	Homo sapiens
Q760	RLRVHQLAEEF	1	Rattus norvegicus
R147	DVTYRRLKKAL	1	Homo sapiens
R147	VVTYNRMESTM	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R147	RVTYERMRHTM	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R147	DVTYKRLKKAL	1	Rattus norvegicus
R270	LGHPARLLESI	1	Homo sapiens
R270	IGHPARLLDSN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R270	LGHPARLLPSI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R270	LGHPARLLESV	1	Rattus norvegicus
R755	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R755	LNSHDRLRVHQ	1	Homo sapiens
R755	LSSHDRLRVHQ	1	Rattus norvegicus
R778	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R778	GEGKRRFITVS	1	Homo sapiens
R778	GEGKARHITVS	1	Rattus norvegicus
S244	LCCAPSNIAVD	2	Homo sapiens, Rattus norvegicus
S244	LICGPSNISVD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S244	LVCGASNLAVD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S508	-----SKGNPG	2	Homo sapiens, Rattus norvegicus
S508	---LGSKYNEG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S508	NFYQDSKSNHW	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S563	ELEIKSVDGFQ	2	Homo sapiens, Rattus norvegicus
S563	DIEISTVDGFQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S563	EVEMGSVDKVQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S752	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S752	PPSLNSHDRLR	1	Homo sapiens
S752	PTSLSSHDRLR	1	Rattus norvegicus
S771	-----------	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S771	GLRHDSSGEGK	1	Homo sapiens
S771	GLKHDSTGEGK	1	Rattus norvegicus
T144	LANDVTYRRLK	1	Homo sapiens
T144	TTNVVTYNRME	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T144	LVNRVTYERMR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T144	LANDVTYKRLK	1	Rattus norvegicus
T351	NVVLATNTGAS	1	Homo sapiens
T351	RIVVTTLHGSS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T351	KVVFCTLHGAG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T351	DVVLATNTGAS	1	Rattus norvegicus
T353	VLATNTGASAD	1	Homo sapiens
T353	VVTTLHGSSSR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T353	VFCTLHGAGSR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T353	VLATNTGASTD	1	Rattus norvegicus
T407	KQLPPTTVSH-	2	Homo sapiens, Rattus norvegicus
T407	KQLPPTIKTED	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T407	MQLSPNVQSK-	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V143	KLANDVTYRRL	1	Homo sapiens
V143	KTTNVVTYNRM	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V143	KLVNRVTYERM	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V143	KLANDVTYKRL	1	Rattus norvegicus
Y541	AVVSPYNLQVD	1	Homo sapiens
Y541	GVISPYNAQVS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y541	AVVTPYNAQVA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y541	AVIAPYNLQVD	1	Rattus norvegicus