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 UBA2

Gene summary

Basic gene Info.	Gene symbol	UBA2
	Gene name	ubiquitin-like modifier activating enzyme 2
	Synonyms	ARX\|SAE2
	Cytomap	UCSC genome browser: 19q12
	Type of gene	protein-coding
	RefGenes	NM_005499.2,
	Description	SUMO-1 activating enzyme subunit 2SUMO-activating enzyme subunit 2SUMO1 activating enzyme subunit 2UBA2, ubiquitin-activating enzyme E1 homologanthracycline-associated resistance ARXubiquitin-like 1-activating enzyme E1Bubiquitin-like modifier-activ
	Modification date	20141207
dbXrefs	MIM : 613295
	HGNC : HGNC
	Ensembl : ENSG00000126261
	HPRD : 11658
	Vega : OTTHUMG00000182090
Protein	UniProt: Q9UBT2 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_UBA2
	BioGPS: 10054
Pathway	NCI Pathway Interaction Database: UBA2
	KEGG: UBA2
	REACTOME: UBA2
	Pathway Commons: UBA2
Context	iHOP: UBA2
	ligand binding site mutation search in PubMed: UBA2
	UCL Cancer Institute: UBA2
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:0016925	protein sumoylation	20164921

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Ligand binding site mutations for UBA2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
A121	R122Q	COAD	1
C161	P163L	SKCM	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 UBA2

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
A121	R122Q	-0.86628853
C161	P163L	-0.3497398

(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 UBA2 from PDB

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Differential gene expression and gene-gene network for UBA2

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 UBA2 and the right PPI network was created from samples without mutations in the LBS of UBA2. 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 UBA2

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 UBA2

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 UBA2 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ATP		ATP	1y8q	B	A121
ATP		ATP	1y8q	D	A121
ATP		ATP	1y8r	E	A121
JZU		5'-DEOXY-5'-(SULFAMOYLAMINO)ADENOSINE	3kyc	B	A121
VMX		5'-{[(3-AMINOPROPYL)SULFONYL]AMINO}-5'-DEOXYADENOSINE	3kyd	B	A121
ZN		ZINC(2+)	1y8q	B	C161
ZN		ZINC(2+)	1y8q	D	C161
ZN		ZINC(2+)	1y8r	B	C161
ZN		ZINC(2+)	1y8r	E	C161
ZN		ZINC(2+)	3kyc	B	C161
ZN		ZINC(2+)	3kyd	B	C161

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Conservation information for LBS of UBA2

Multiple alignments for Q9UBT2 in multiple species

LBS	AA sequence	# species	Species
A115	ILVMNALDNRA	2	Homo sapiens, Mus musculus
A115	QLVMNALDNRA	1	Danio rerio
A115	TMVMNALDNNA	1	Xenopus tropicalis
A115	DIIFNALDNLA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A115	DLVFNALDNLD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A121	LDNRAARNHVN	3	Homo sapiens, Danio rerio, Mus musculus
A121	LDNNAARNHVN	1	Xenopus tropicalis
A121	LDNLAARRYVN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A121	LDNLDARRHVN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A25	VLVVGAGGIGC	3	Homo sapiens, Danio rerio, Mus musculus
A25	LLVVGAGGIGC	1	Xenopus tropicalis
A25	CLLVGAGGIGS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A25	VLLVGAGGIGC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C158	KGVTECYECHP	2	Homo sapiens, Mus musculus
C158	KGQTECYECQP	1	Danio rerio
C158	KGVTECYECQP	1	Xenopus tropicalis
C158	PGKTECFECTK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C158	HGKTECYDCNP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C161	TECYECHPKPT	2	Homo sapiens, Mus musculus
C161	TECYECQPKPT	2	Danio rerio, Xenopus tropicalis
C161	TECFECTKKET	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C161	TECYDCNPKEP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C173	RTFPGCTIRNT	2	Homo sapiens, Mus musculus
C173	KTFPGCTIRNT	2	Danio rerio, Xenopus tropicalis
C173	KTFPVCTIRST	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C173	KTYPVCTIRST	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C441	PPNPNCYVCAS	1	Homo sapiens
C441	PPNASCYVCAS	1	Danio rerio
C441	PPNPSCYVCAI	1	Xenopus tropicalis
C441	PPNTNCYVCAS	1	Mus musculus
C441	PPNKNCPVCSK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C441	KPNPYCPTCSF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C444	PNCYVCASKPE	1	Homo sapiens
C444	ASCYVCASKPE	1	Danio rerio
C444	PSCYVCAIKPE	1	Xenopus tropicalis
C444	TNCYVCASKPE	1	Mus musculus
C444	KNCPVCSKVCR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C444	PYCPTCSFVL-	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D117	VMNALDNRAAR	3	Homo sapiens, Danio rerio, Mus musculus
D117	VMNALDNNAAR	1	Xenopus tropicalis
D117	IFNALDNLAAR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D117	VFNALDNLDAR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D48	HIDLIDLDTID	2	Homo sapiens, Mus musculus
D48	NIEVIDLDTID	1	Danio rerio
D48	NLDVIDLDTID	1	Xenopus tropicalis
D48	EIHIVDLDTID	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D48	EVHIIDLDTID	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D50	DLIDLDTIDVS	2	Homo sapiens, Mus musculus
D50	EVIDLDTIDVS	1	Danio rerio
D50	DVIDLDTIDVS	1	Xenopus tropicalis
D50	HIVDLDTIDLS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D50	HIIDLDTIDLS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D94	ITAYHDSIMN-	2	Danio rerio, Xenopus tropicalis
D94	IVAYHDSIMN-	1	Homo sapiens
D94	IEAHHDSIMN-	1	Mus musculus
D94	LVPYQGNVMDI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D94	LEAYHANIKE-	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G24	RVLVVGAGGIG	3	Homo sapiens, Danio rerio, Mus musculus
G24	RLLVVGAGGIG	1	Xenopus tropicalis
G24	RCLLVGAGGIG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G24	KVLLVGAGGIG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G26	LVVGAGGIGCE	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
G26	LLVGAGGIGSE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G26	LLVGAGGIGCE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G27	VVGAGGIGCEL	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
G27	LVGAGGIGSEL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G27	LVGAGGIGCEL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I28	VGAGGIGCELL	5	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I28	VGAGGIGSELL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I96	AYHDSIMN-PD	3	Homo sapiens, Danio rerio, Xenopus tropicalis
I96	AHHDSIMN-PD	1	Mus musculus
I96	PYQGNVMDIST	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I96	AYHANIKE-DR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K346	ELVWDKDDPPA	2	Danio rerio, Xenopus tropicalis
K346	ELIWDKDDPSA	1	Homo sapiens
K346	ELIWDKDDPPA	1	Mus musculus
K346	HIEFDKDDADT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K346	DLSFDKDDKDT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K72	HVGRSKAQVAK	3	Homo sapiens, Xenopus tropicalis, Mus musculus
K72	HVGKSKAQVAK	1	Danio rerio
K72	DIKQPKSTTAV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K72	HVKQPKAIVAA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L116	LVMNALDNRAA	3	Homo sapiens, Danio rerio, Mus musculus
L116	MVMNALDNNAA	1	Xenopus tropicalis
L116	IIFNALDNLAA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L116	LVFNALDNLDA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L49	IDLIDLDTIDV	2	Homo sapiens, Mus musculus
L49	IEVIDLDTIDV	1	Danio rerio
L49	LDVIDLDTIDV	1	Xenopus tropicalis
L49	IHIVDLDTIDL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L49	VHIIDLDTIDL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M97	YHDSIMN-PDY	3	Homo sapiens, Danio rerio, Xenopus tropicalis
M97	HHDSIMN-PDY	1	Mus musculus
M97	YQGNVMDISTF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M97	YHANIKE-DRF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N118	MNALDNRAARN	3	Homo sapiens, Danio rerio, Mus musculus
N118	MNALDNNAARN	1	Xenopus tropicalis
N118	FNALDNLAARR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N118	FNALDNLDARR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N56	TIDVSNLNRQF	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
N56	TIDLSNLNRQF	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q60	SNLNRQFLFQK	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
Q60	SNLNRQFLFRQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q60	SNLNRQFLFRK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R176	PGCTIRNTPSE	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
R176	PVCTIRSTPSQ	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R59	VSNLNRQFLFQ	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
R59	LSNLNRQFLFR	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S95	TAYHDSIMN-P	2	Danio rerio, Xenopus tropicalis
S95	VAYHDSIMN-P	1	Homo sapiens
S95	EAHHDSIMN-P	1	Mus musculus
S95	VPYQGNVMDIS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S95	EAYHANIKE-D	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T141	LIESGTAGYLG	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
T141	LIESGTAGFDG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T141	LIESGTTGFLG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T174	TFPGCTIRNTP	4	Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
T174	TFPVCTIRSTP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T174	TYPVCTIRSTP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)