EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
28438789	Desmoglein 2 modulates extracellular vesicle release from squamous cell carcinoma keratinocytes.	FASEB J	2017 Aug	Overmiller AM	doi: 10.1096/fj.201601138RR
24896103	Characterization of desmoglein expression in the normal prostatic gland. Desmoglein 2 is an independent prognostic factor for aggressive prostate cancer.	PLoS One	2014 Jun 4	Barber AG	doi: 10.1371/journal.pone.0098786
19458482	Increased expression of Dsg2 in malignant skin carcinomas: A tissue-microarray based study.	Cell Adh Migr	2009 Apr-Jun	Brennan D	-
27340778	Desmoglein 2 promotes vasculogenic mimicry in melanoma and is associated with poor clinical outcome.	Oncotarget	2016 Jul 19	Tan LY	doi: 10.18632/oncotarget.10216.
27629878	Desmoglein-2 is overexpressed in non-small cell lung cancer tissues and its knockdown suppresses NSCLC growth by regulation of p27 and CDK2.	J Cancer Res Clin Oncol	2017 Jan	Cai F	doi: 10.1007/s00432-016-2250-0
20923451	A molecular study of desmosomes identifies a desmoglein isoform switch in head and neck squamous cell carcinoma.	J Oral Pathol Med	2011 Jan	Teh MT	doi: 10.1111/j.1600-0714.2010.00951.x

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr18	31522150	Silent	novel	S197S	0.83
ACC	chr18	31524736	Missense_Mutation	rs780374242	V288I	0.8
BLCA	chr18	31521124	Missense_Mutation	NA	R135K	0.24
BLCA	chr18	31536254	Missense_Mutation	novel	I492M	0.07
BLCA	chr18	31541284	Nonsense_Mutation	novel	W657*	0.3
BLCA	chr18	31546639	Missense_Mutation	NA	L1085V	0.23
BLCA	chr18	31522141	Silent	rs748768578	S194S	0.51
BLCA	chr18	31531109	Silent	NA	V379V	0.28
BLCA	chr18	31531165	Missense_Mutation	novel	S398N	0.17
BLCA	chr18	31519830	Missense_Mutation	novel	L37M	0.2
BLCA	chr18	31546355	Missense_Mutation	NA	R990T	0.25
BLCA	chr18	31536308	Silent	novel	A510A	0.2
BLCA	chr18	31522202	Missense_Mutation	NA	K215Q	0.34
BLCA	chr18	31531212	Nonsense_Mutation	novel	Q414*	0.47
BLCA	chr18	31542554	Missense_Mutation	novel	G679V	0.1
BLCA	chr18	31520947	Missense_Mutation	novel	E121Q	0.21
BRCA	chr18	31542646	Missense_Mutation	NA	E710Q	0.12
BRCA	chr18	31520805	Missense_Mutation	rs748445394	I73M	0.32
BRCA	chr18	31530984	Splice_Region	novel		0.41
BRCA	chr18	31546233	Silent	NA	T949T	0.19
CESC	chr18	31535323	Missense_Mutation	novel	S445F	0.14
CESC	chr18	31546301	Missense_Mutation	rs751064437	S972F	0.38
CESC	chr18	31546760	3'UTR	novel		0.34
CESC	chr18	31531017	Missense_Mutation	novel	D349H	0.29
CESC	chr18	31546021	Missense_Mutation	novel	E879Q	0.31
CESC	chr18	31519855	Missense_Mutation	novel	V45A	0.22
COAD	chr18	31536303	Missense_Mutation	rs753406968	D509N	0.48
COAD	chr18	31546760	3'UTR	novel		0.4
COAD	chr18	31521168	Missense_Mutation	novel	L150I	0.05
COAD	chr18	31545976	Missense_Mutation	novel	N864D	0.41
COAD	chr18	31546367	Missense_Mutation	novel	P994H	0.08
COAD	chr18	31546747	3'UTR	novel		0.32
COAD	chr18	31524786	Silent	novel	D304D	0.53
COAD	chr18	31542730	Missense_Mutation	rs397516705	A738T	0.44
COAD	chr18	31541225	Missense_Mutation	rs201564919	G638R	0.24
COAD	chr18	31542730	Missense_Mutation	rs397516705	A738T	0.36
COAD	chr18	31536392	Silent	NA	P538P	0.31
COAD	chr18	31541256	Missense_Mutation	novel	P648H	0.28
COAD	chr18	31545914	Frame_Shift_Del	NA	I845*	0.27
COAD	chr18	31546257	Silent	NA	Q957Q	0.42
COAD	chr18	31546866	3'UTR	novel		0.26
COAD	chr18	31522143	Missense_Mutation	novel	K195T	0.26
COAD	chr18	31535393	Missense_Mutation	NA	K468N	0.11
COAD	chr18	31535382	Missense_Mutation	novel	Y465H	0.08
COAD	chr18	31522141	Silent	rs748768578	S194S	0.3
COAD	chr18	31535279	Missense_Mutation	novel	K430N	0.08
COAD	chr18	31546092	Silent	NA	V902V	0.21
COAD	chr18	31531061	Silent	rs372598337	S363S	0.1
COAD	chr18	31546099	Missense_Mutation	NA	E905K	0.26
ESCA	chr18	31546706	Missense_Mutation	novel	V1107A	0.38
GBM	chr18	31521243	Missense_Mutation	rs375422019	H175Y	0.24
GBM	chr18	31546589	Missense_Mutation	novel	S1068Y	0.22
GBM	chr18	31542797	Missense_Mutation	novel	A760D	0.12
GBM	chr18	31524579	Silent	novel	N274N	0.13
HNSC	chr18	31536377	Silent	novel	V533V	0.27
HNSC	chr18	31546537	Missense_Mutation	novel	L1051V	0.18
HNSC	chr18	31524532	Nonsense_Mutation	novel	Q259*	0.11
HNSC	chr18	31524823	Nonsense_Mutation	novel	E317*	0.32
HNSC	chr18	31536371	Missense_Mutation	novel	F531L	0.37
KICH	chr18	31542725	Missense_Mutation	NA	T736I	0.36
KIRC	chr18	31521099	Missense_Mutation	NA	L127V	0.31
KIRC	chr18	31536330	Missense_Mutation	NA	E518Q	0.1
KIRC	chr18	31522123	Silent	NA	E188E	0.29
KIRP	chr18	31536323	Silent	NA	V515V	0.32
LGG	chr18	31541307	Missense_Mutation	NA	E665G	0.18
LGG	chr18	31519851	Missense_Mutation	novel	L44V	0.29
LGG	chr18	31519886	Silent	rs780650457	P55P	0.46
LGG	chr18	31546650	Silent	NA	F1088F	0.1
LGG	chr18	31522159	Silent	rs535646295	I200I	0.28
LGG	chr18	31522243	Missense_Mutation	novel	D228E	0.32
LGG	chr18	31546178	Missense_Mutation	NA	R931T	0.45
LGG	chr18	31524853	Missense_Mutation	novel	A327T	0.36
LGG	chr18	31546264	Missense_Mutation	novel	S960C	0.36
LGG	chr18	31546372	Missense_Mutation	NA	G996W	0.06
LIHC	chr18	31535288	Silent	rs367548984	D433D	0.25
LIHC	chr18	31538979	Splice_Site	novel	X627_splice	0.31
LIHC	chr18	31546619	Missense_Mutation	NA	G1078A	0.15
LUAD	chr18	31522205	Missense_Mutation	novel	D216Y	0.09
LUAD	chr18	31519873	Missense_Mutation	rs397516702	W51L	0.69
LUAD	chr18	31542654	Silent	rs762885119	S712S	0.2
LUAD	chr18	31545925	Missense_Mutation	novel	I847L	0.15
LUAD	chr18	31546023	Missense_Mutation	novel	E879D	0.17
LUAD	chr18	31546326	Silent	NA	A980A	0.32
LUAD	chr18	31546239	Silent	novel	V951V	0.07
LUAD	chr18	31536339	Missense_Mutation	NA	D521Y	0.48
LUAD	chr18	31542633	Silent	novel	V705V	0.52
LUAD	chr18	31531234	Missense_Mutation	NA	G421A	0.28
LUAD	chr18	31521098	Splice_Site	novel	X127_splice	0.12
LUAD	chr18	31524446	Splice_Site	NA	X231_splice	0.19
LUAD	chr18	31546581	Silent	rs544981484	T1065T	0.14
LUAD	chr18	31542811	Missense_Mutation	NA	V765L	0.21
LUAD	chr18	31531035	Missense_Mutation	NA	A355S	0.57
LUAD	chr18	31531065	Missense_Mutation	NA	R365W	0.3
LUAD	chr18	31545862	Missense_Mutation	NA	L826V	0.09
LUSC	chr18	31536221	Silent	novel	I481I	0.34
LUSC	chr18	31542795	Silent	novel	G759G	0.1
LUSC	chr18	31542747	Missense_Mutation	novel	E743D	0.23
LUSC	chr18	31519901	Missense_Mutation	NA	E60D	0.57
LUSC	chr18	31536296	Missense_Mutation	novel	I506M	0.13
LUSC	chr18	31545726	Silent	rs375539435	A780A	0.3
LUSC	chr18	31546019	Missense_Mutation	NA	S878L	0.26
LUSC	chr18	31546291	Missense_Mutation	novel	A969S	0.21
LUSC	chr18	31535414	Splice_Site	novel	X475_splice	0.18
LUSC	chr18	31546555	Silent	NA	L1057L	0.08
OV	chr18	31538912	Missense_Mutation	novel	D605H	0.04
OV	chr18	31536386	Missense_Mutation	NA	K536N	0.1
OV	chr18	31541224	Silent	rs201654341	C637C	0.26
OV	chr18	31519896	Missense_Mutation	rs749602291	R59W	0.07
PAAD	chr18	31535370	Missense_Mutation	novel	Q461K	0.05
PAAD	chr18	31535398	Missense_Mutation	novel	V470A	0.19
PAAD	chr18	31538762	Silent	novel	L555L	0.18
PAAD	chr18	31546595	Missense_Mutation	rs149617776	T1070M	0.14
PAAD	chr18	31536274	Missense_Mutation	novel	L499R	0.05
PRAD	chr18	31519890	Missense_Mutation	NA	A57T	0.21
PRAD	chr18	31546292	Missense_Mutation	novel	A969D	0.44
READ	chr18	31545838	Missense_Mutation	novel	E818K	0.04
READ	chr18	31536385	Missense_Mutation	novel	K536T	0.39
SARC	chr18	31531034	Silent	rs369233023	V354V	0.08
SARC	chr18	31536384	Missense_Mutation	novel	K536E	0.32
SARC	chr18	31546595	Missense_Mutation	rs149617776	T1070M	0.47
SARC	chr18	31538931	Missense_Mutation	novel	G611E	0.3
SARC	chr18	31542762	Silent	novel	A748A	0.44
SKCM	chr18	31546428	Silent	NA	V1014V	0.47
SKCM	chr18	31522141	Silent	rs748768578	S194S	0.3
SKCM	chr18	31524710	Missense_Mutation	novel	G279E	0.31
SKCM	chr18	31521197	Silent	novel	F159F	0.41
SKCM	chr18	31531122	Missense_Mutation	novel	E384K	0.37
SKCM	chr18	31546820	3'UTR	novel		0.16
SKCM	chr18	31522141	Silent	rs748768578	S194S	0.2
SKCM	chr18	31522211	Missense_Mutation	NA	G218R	0.39
SKCM	chr18	31522149	Missense_Mutation	NA	S197F	0.43
SKCM	chr18	31524817	Missense_Mutation	novel	G315R	0.15
SKCM	chr18	31524818	Missense_Mutation	novel	G315E	0.15
SKCM	chr18	31542823	Missense_Mutation	rs371146201	E769K	0.24
SKCM	chr18	31541313	Missense_Mutation	NA	K667R	0.25
SKCM	chr18	31542823	Missense_Mutation	rs371146201	E769K	0.19
SKCM	chr18	31522096	Missense_Mutation	NA	M179I	0.39
SKCM	chr18	31524779	Missense_Mutation	NA	G302D	0.86
SKCM	chr18	31522149	Missense_Mutation	novel	S197Y	0.33
SKCM	chr18	31524538	Missense_Mutation	rs146194893	R261C	0.4
SKCM	chr18	31545790	Missense_Mutation	novel	E802K	0.27
SKCM	chr18	31538899	Silent	novel	R600R	0.26
SKCM	chr18	31538833	Silent	NA	F578F	0.27
SKCM	chr18	31535325	Missense_Mutation	NA	E446K	0.38
SKCM	chr18	31541194	Splice_Region	rs754778907	L627L	0.38
SKCM	chr18	31542789	Missense_Mutation	novel	M757I	0.29
SKCM	chr18	31536374	Silent	rs775653162	S532S	0.42
SKCM	chr18	31541218	Missense_Mutation	novel	C635W	0.23
SKCM	chr18	31531109	Silent	NA	V379V	0.3
SKCM	chr18	31542657	Silent	NA	E713E	0.41
SKCM	chr18	31546099	Missense_Mutation	NA	E905K	0.38
SKCM	chr18	31531216	Missense_Mutation	NA	A415V	0.45
SKCM	chr18	31521186	Missense_Mutation	rs566251077	E156K	0.5
SKCM	chr18	31531186	Missense_Mutation	NA	S405T	0.2
SKCM	chr18	31522149	Missense_Mutation	NA	S197F	0.39
SKCM	chr18	31545793	Missense_Mutation	NA	E803K	0.23
SKCM	chr18	31542566	Missense_Mutation	rs770270723	G683E	0.36
SKCM	chr18	31546697	Missense_Mutation	novel	S1104F	0.35
SKCM	chr18	31536374	Silent	rs775653162	S532S	0.24
SKCM	chr18	31531061	Silent	rs372598337	S363S	0.34
SKCM	chr18	31546862	3'UTR	novel		0.29
SKCM	chr18	31542569	Missense_Mutation	NA	R684K	0.47
SKCM	chr18	31521149	Missense_Mutation	NA	L143F	0.13
SKCM	chr18	31524747	Silent	rs760706353	T291T	0.19
SKCM	chr18	31546576	Missense_Mutation	novel	P1064S	0.13
SKCM	chr18	31546612	Missense_Mutation	NA	V1076M	0.34
SKCM	chr18	31545803	Missense_Mutation	rs764524494	S806L	0.4
SKCM	chr18	31522140	Missense_Mutation	rs374875442	S194L	0.34
SKCM	chr18	31531088	Silent	rs542079618	P372P	0.41
SKCM	chr18	31536239	Silent	NA	I487I	0.43
SKCM	chr18	31520941	Nonsense_Mutation	rs753052874	R119*	0.11
SKCM	chr18	31522141	Silent	rs748768578	S194S	0.32
SKCM	chr18	31531222	Missense_Mutation	NA	D417V	0.46
SKCM	chr18	31542686	Missense_Mutation	NA	S723N	0.2
SKCM	chr18	31546057	Missense_Mutation	NA	P891S	0.32
SKCM	chr18	31535310	Missense_Mutation	novel	D441N	0.27
SKCM	chr18	31531171	Missense_Mutation	NA	S400N	0.23
SKCM	chr18	31522182	Missense_Mutation	NA	P208L	0.27
SKCM	chr18	31519926	Missense_Mutation	novel	P69S	0.36
SKCM	chr18	31520831	Missense_Mutation	novel	G82E	0.31
SKCM	chr18	31541276	Missense_Mutation	novel	H655Y	0.11
SKCM	chr18	31546453	Missense_Mutation	novel	L1023F	0.52
SKCM	chr18	31546512	Silent	NA	Q1042Q	0.4
SKCM	chr18	31545790	Missense_Mutation	novel	E802K	0.77
SKCM	chr18	31524482	Missense_Mutation	NA	R242K	0.67
SKCM	chr18	31538810	Silent	NA	L571L	0.24
SKCM	chr18	31524865	Missense_Mutation	rs121913012	E331K	0.25
STAD	chr18	31541233	Silent	rs775642244	G640G	0.38
STAD	chr18	31545914	Frame_Shift_Del	NA	I845*	0.16
STAD	chr18	31521236	Silent	NA	S172S	0.26
STAD	chr18	31542737	Missense_Mutation	NA	M740T	0.22
STAD	chr18	31542823	Missense_Mutation	rs371146201	E769K	0.33
STAD	chr18	31531070	Silent	NA	S366S	0.05
STAD	chr18	31536273	Missense_Mutation	rs759612298	L499M	0.1
STAD	chr18	31536421	Missense_Mutation	rs551034751	R548H	0.2
STAD	chr18	31541280	Missense_Mutation	novel	P656H	0.28
STAD	chr18	31546766	3'UTR	rs376777933		0.43
STAD	chr18	31542729	Silent	rs74578148	G737G	0.2
STAD	chr18	31546610	Missense_Mutation	NA	T1075M	0.25
STAD	chr18	31542775	Missense_Mutation	novel	A753T	0.6
STAD	chr18	31520955	Frame_Shift_Ins	novel	*L126Sfs23**	0.38
STAD	chr18	31536403	Frame_Shift_Del	novel	*K543Nfs4**	0.2
STAD	chr18	31545990	Silent	NA	H868H	0.17
TGCT	chr18	31542780	Silent	novel	S754S	0.4
THYM	chr18	31545998	Missense_Mutation	novel	C871F	0.07
UCEC	chr18	31524746	Missense_Mutation	rs774563205	T291M	0.23
UCEC	chr18	31546137	Silent	rs763063602	A917A	0.35
UCEC	chr18	31542826	Nonsense_Mutation	NA	E770*	0.32
UCEC	chr18	31545766	Missense_Mutation	NA	D794Y	0.3
UCEC	chr18	31521157	Missense_Mutation	novel	R146H	0.16
UCEC	chr18	31535401	Missense_Mutation	novel	A471V	0.31
UCEC	chr18	31545728	Missense_Mutation	novel	A781V	0.47
UCEC	chr18	31545745	Missense_Mutation	NA	D787Y	0.34
UCEC	chr18	31546728	Silent	NA	Q1114Q	0.26
UCEC	chr18	31531112	Silent	novel	K380K	0.16
UCEC	chr18	31546522	Missense_Mutation	rs185473038	V1046M	0.32
UCEC	chr18	31546228	Missense_Mutation	novel	P948S	0.63
UCEC	chr18	31522247	Missense_Mutation	novel	E230K	0.22
UCEC	chr18	31541233	Silent	rs775642244	G640G	0.39
UCEC	chr18	31531131	Missense_Mutation	novel	H387N	0.33
UCEC	chr18	31538947	Silent	rs372349945	A616A	0.37
UCEC	chr18	31522159	Silent	rs535646295	I200I	0.2
UCEC	chr18	31524759	Silent	novel	V295V	0.07
UCEC	chr18	31536272	Silent	NA	T498T	0.42
UCEC	chr18	31546660	Nonsense_Mutation	NA	E1092*	0.41
UCEC	chr18	31546013	Missense_Mutation	NA	V876A	0.36
UCEC	chr18	31546595	Missense_Mutation	rs149617776	T1070M	0.19
UCEC	chr18	31535393	Missense_Mutation	NA	K468N	0.24
UCEC	chr18	31545942	Missense_Mutation	novel	E852D	0.33
UCEC	chr18	31545788	Missense_Mutation	rs777606703	Q801R	0.24
UCEC	chr18	31546081	Missense_Mutation	novel	A899T	0.23
UCEC	chr18	31530989	Splice_Region	novel	E339E	0.37
UCEC	chr18	31538891	Missense_Mutation	rs773666300	G598S	0.42
UCEC	chr18	31545914	Frame_Shift_Del	NA	I845*	0.29
UCEC	chr18	31531017	Missense_Mutation	rs754281384	D349N	0.37
UCEC	chr18	31546383	Silent	rs763888499	S999S	0.37
UCEC	chr18	31531193	Silent	novel	G407G	0.37
UCEC	chr18	31546137	Silent	rs763063602	A917A	0.37
UCEC	chr18	31546330	Nonsense_Mutation	novel	E982*	0.24
UCEC	chr18	31536292	Missense_Mutation	NA	T505I	0.39
UCEC	chr18	31538926	Silent	novel	G609G	0.28
UCEC	chr18	31545726	Silent	rs375539435	A780A	0.5
UCEC	chr18	31522228	Silent	novel	T223T	0.46
UCEC	chr18	31545958	Missense_Mutation	NA	A858T	0.43
UCEC	chr18	31521147	Missense_Mutation	novel	L143V	0.15
UCEC	chr18	31541298	In_Frame_Ins	novel	A662_P663insLFL	0.09
UCEC	chr18	31542753	Silent	rs759572082	T745T	0.12
UCEC	chr18	31545761	Missense_Mutation	novel	A792D	0.36
UCEC	chr18	31546634	Missense_Mutation	NA	G1083D	0.15
UCEC	chr18	31546477	Missense_Mutation	novel	P1031S	0.42
UCEC	chr18	31542616	Missense_Mutation	novel	S700R	0.32
UCEC	chr18	31522247	Missense_Mutation	novel	E230K	0.28
UCEC	chr18	31522141	Silent	rs748768578	S194S	0.43
UCEC	chr18	31522114	Silent	novel	D185D	0.38
UCEC	chr18	31545803	Missense_Mutation	rs764524494	S806L	0.17
UCEC	chr18	31542792	Silent	rs778950229	A758A	0.23
UCEC	chr18	31541217	Missense_Mutation	rs771537581	C635Y	0.07
UCEC	chr18	31546526	Nonsense_Mutation	novel	T1047_E1048insIS*	0.07
UCEC	chr18	31524852	Silent	novel	D326D	0.36
UCEC	chr18	31542647	Missense_Mutation	NA	E710G	0.08
UCEC	chr18	31522164	Missense_Mutation	NA	S202Y	0.47
UCEC	chr18	31538801	Missense_Mutation	NA	I568L	0.41
UCEC	chr18	31524823	Missense_Mutation	rs749582956	E317K	0.31
UCEC	chr18	31535286	Missense_Mutation	NA	D433Y	0.35
UCEC	chr18	31541213	Missense_Mutation	NA	M634V	0.25
UCEC	chr18	31542823	Missense_Mutation	rs371146201	E769K	0.23
UCEC	chr18	31546382	Missense_Mutation	rs762717195	S999L	0.07
UCEC	chr18	31522141	Silent	rs748768578	S194S	0.21
UCEC	chr18	31531009	Missense_Mutation	novel	K346R	0.15
UCEC	chr18	31546673	Missense_Mutation	novel	S1096Y	0.41
UCEC	chr18	31531093	Missense_Mutation	NA	P374L	0.25
UCEC	chr18	31545804	Silent	rs751831001	S806S	0.29
UCEC	chr18	31531166	Silent	rs770669833	S398S	0.29
UCEC	chr18	31538775	Missense_Mutation	novel	S559N	0.34
UCEC	chr18	31541233	Silent	rs775642244	G640G	0.28

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0001	Kaplan-Meier Survival Analysis
MESO	0.00031	Kaplan-Meier Survival Analysis
ACC	0.021	Kaplan-Meier Survival Analysis
HNSC	0.0012	Kaplan-Meier Survival Analysis
BRCA	0.0069	Kaplan-Meier Survival Analysis
KIRP	0.025	Kaplan-Meier Survival Analysis
COAD	0.012	Kaplan-Meier Survival Analysis
PAAD	0.0001	Kaplan-Meier Survival Analysis
BLCA	0.025	Kaplan-Meier Survival Analysis
CESC	0.00054	Kaplan-Meier Survival Analysis
READ	0.018	Kaplan-Meier Survival Analysis
UCEC	0.018	Kaplan-Meier Survival Analysis
GBM	0.0032	Kaplan-Meier Survival Analysis
LIHC	0.00063	Kaplan-Meier Survival Analysis
LGG	0.00012	Kaplan-Meier Survival Analysis
LUAD	0.00011	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000046604 (Gene tree)
Gene ID: 1829
Gene Symbol: DSG2
Alias: CDHF5
Full Name: desmoglein 2
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 50,966 bases
Position: chr18:31,498,043-31,549,008
Accession: 3049
RBP type: non-canonical RBP
Summary: This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
10679243	Identification of casein kinase I substrates by in vitro expression cloning screening.	Biochem Biophys Res Commun	2000 Feb 16	Gao ZH	-

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000261590	DSG2-201	5831	XM_024451095	ENSP00000261590	1118 (aa)	XP_024306863	Q14126
ENST00000585206	DSG2-202	1081	-	ENSP00000462503	232 (aa)	-	J3KSI6

Gene Model

Click here to download ENSG00000046604's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa05412	Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000046604	Glucose	2.50287134002875E-7	17903298
ENSG00000046604	Blood Pressure	9.1816631E-005	-

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000046604	rs2704050	18	31515925	G	Blood protein levels	29875488	[0.13-0.21] unit decrease	0.17	EFO_0007937
ENSG00000046604	rs2212617	18	31508010	A	Blood protein levels	30072576	[0.09-0.184] unit increase	0.137	EFO_0007937
ENSG00000046604	rs8093731	18	31508995	T	Alzheimer's disease (late onset)	30617256	NR z-score decrease	5.4649644	EFO_0000249

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000046604's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000046604	DSG2	95	52.727	ENSG00000134760	DSG1	99	33.879	Homo_sapiens
ENSG00000046604	DSG2	88	40.865	ENSG00000134765	DSC1	88	31.039	Homo_sapiens

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0001533	cornified envelope	-	TAS	Component
GO:0002934	desmosome organization	16505173.	IMP	Process
GO:0003165	Purkinje myocyte development	16505173.	IMP	Process
GO:0005509	calcium ion binding	-	IEA	Function
GO:0005886	plasma membrane	17559062.20859650.	IDA	Component
GO:0005886	plasma membrane	-	TAS	Component
GO:0005911	cell-cell junction	8143788.	TAS	Component
GO:0007155	cell adhesion	17559062.	IDA	Process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	17559062.	IDA	Process
GO:0009986	cell surface	19581412.	HDA	Component
GO:0014704	intercalated disc	23381804.	IDA	Component
GO:0016021	integral component of membrane	-	IEA	Component
GO:0016324	apical plasma membrane	-	IEA	Component
GO:0016328	lateral plasma membrane	-	IEA	Component
GO:0030054	cell junction	-	IDA	Component
GO:0030057	desmosome	23381804.	IDA	Component
GO:0031424	keratinization	-	TAS	Process
GO:0032570	response to progesterone	-	IEA	Process
GO:0043231	intracellular membrane-bounded organelle	-	IDA	Component
GO:0050839	cell adhesion molecule binding	17559062.	IPI	Function
GO:0060135	maternal process involved in female pregnancy	-	IEA	Process
GO:0070062	extracellular exosome	19199708.	HDA	Component
GO:0070268	cornification	-	TAS	Process
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	16505173.	IMP	Process
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	16505173.	IC	Function
GO:0086091	regulation of heart rate by cardiac conduction	16505173.23381804.	IMP	Process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	16505173.23381804.	IMP	Process

EuRBPDB

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Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

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Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Note: to get the extension of tumor abbreviations.