Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10529
Gene name Gene Name - the full gene name approved by the HGNC.	Nebulette
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEBL
Synonyms (NCBI Gene) Gene synonyms aliases	C10orf113, LASP2, LNEBL, bA165O3.1
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p12.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114875104	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs146275785	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs151035799	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs193163659	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, splice donor variant, downstream transcript variant, intron variant
rs200249470	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201822024	C>T	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic downstream transcript variant, intron variant
rs536400111	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs727504904	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs768079285	T>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant

Show/Hide all(298)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046090	hsa-miR-125b-5p	CLASH	23622248
MIRT722021	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT722020	hsa-miR-4301	HITS-CLIP	19536157
MIRT722019	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT722018	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT722017	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT722016	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT645253	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT645252	hsa-miR-4475	HITS-CLIP	23824327
MIRT645251	hsa-miR-7845-5p	HITS-CLIP	23824327
MIRT645250	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT645249	hsa-miR-6892-5p	HITS-CLIP	23824327
MIRT645248	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT645247	hsa-miR-4477b	HITS-CLIP	23824327
MIRT645246	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT722021	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT722020	hsa-miR-4301	HITS-CLIP	19536157
MIRT722019	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT722018	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT722017	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT722016	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT645253	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT645252	hsa-miR-4475	HITS-CLIP	23824327
MIRT645251	hsa-miR-7845-5p	HITS-CLIP	23824327
MIRT645250	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT645249	hsa-miR-6892-5p	HITS-CLIP	23824327
MIRT645248	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT645247	hsa-miR-4477b	HITS-CLIP	23824327
MIRT645246	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT1179291	hsa-miR-1208	CLIP-seq
MIRT1179292	hsa-miR-1237	CLIP-seq
MIRT1179293	hsa-miR-1248	CLIP-seq
MIRT1179294	hsa-miR-216b	CLIP-seq
MIRT1179295	hsa-miR-3921	CLIP-seq
MIRT1179296	hsa-miR-4252	CLIP-seq
MIRT1179297	hsa-miR-4502	CLIP-seq
MIRT1179298	hsa-miR-452	CLIP-seq
MIRT1179299	hsa-miR-4653-5p	CLIP-seq
MIRT1179300	hsa-miR-4676-3p	CLIP-seq
MIRT1179301	hsa-miR-4727-5p	CLIP-seq
MIRT1179302	hsa-miR-4769-3p	CLIP-seq
MIRT1179303	hsa-miR-4795-3p	CLIP-seq
MIRT1179304	hsa-miR-548c-3p	CLIP-seq
MIRT1179305	hsa-miR-1200	CLIP-seq
MIRT1179306	hsa-miR-1228	CLIP-seq
MIRT1179307	hsa-miR-1265	CLIP-seq
MIRT1179308	hsa-miR-1273f	CLIP-seq
MIRT1179309	hsa-miR-1283	CLIP-seq
MIRT1179310	hsa-miR-1284	CLIP-seq
MIRT1179311	hsa-miR-1323	CLIP-seq
MIRT1179312	hsa-miR-133a	CLIP-seq
MIRT1179313	hsa-miR-133b	CLIP-seq
MIRT1179314	hsa-miR-143	CLIP-seq
MIRT1179315	hsa-miR-197	CLIP-seq
MIRT1179316	hsa-miR-1976	CLIP-seq
MIRT1179317	hsa-miR-203	CLIP-seq
MIRT1179318	hsa-miR-2052	CLIP-seq
MIRT1179319	hsa-miR-2053	CLIP-seq
MIRT1179320	hsa-miR-224	CLIP-seq
MIRT1179321	hsa-miR-300	CLIP-seq
MIRT1179322	hsa-miR-3074-3p	CLIP-seq
MIRT1179323	hsa-miR-3136-5p	CLIP-seq
MIRT1179324	hsa-miR-3146	CLIP-seq
MIRT1179325	hsa-miR-3152-3p	CLIP-seq
MIRT1179326	hsa-miR-3190	CLIP-seq
MIRT1179327	hsa-miR-323b-3p	CLIP-seq
MIRT1179328	hsa-miR-329	CLIP-seq
MIRT1179329	hsa-miR-3614-3p	CLIP-seq
MIRT1179330	hsa-miR-3618	CLIP-seq
MIRT1179331	hsa-miR-362-3p	CLIP-seq
MIRT1179332	hsa-miR-3688-5p	CLIP-seq
MIRT1179333	hsa-miR-3714	CLIP-seq
MIRT1179334	hsa-miR-371-5p	CLIP-seq
MIRT1179335	hsa-miR-371b-5p	CLIP-seq
MIRT1179336	hsa-miR-381	CLIP-seq
MIRT1179337	hsa-miR-3919	CLIP-seq
MIRT1179338	hsa-miR-3973	CLIP-seq
MIRT1179339	hsa-miR-409-3p	CLIP-seq
MIRT1179340	hsa-miR-412	CLIP-seq
MIRT1179341	hsa-miR-4279	CLIP-seq
MIRT1179342	hsa-miR-4307	CLIP-seq
MIRT1179343	hsa-miR-4318	CLIP-seq
MIRT1179344	hsa-miR-4324	CLIP-seq
MIRT1179345	hsa-miR-4436b-5p	CLIP-seq
MIRT1179346	hsa-miR-4439	CLIP-seq
MIRT1179347	hsa-miR-4474-5p	CLIP-seq
MIRT1179348	hsa-miR-4477a	CLIP-seq
MIRT1179349	hsa-miR-4493	CLIP-seq
MIRT1179350	hsa-miR-4495	CLIP-seq
MIRT1179297	hsa-miR-4502	CLIP-seq
MIRT1179351	hsa-miR-4509	CLIP-seq
MIRT1179352	hsa-miR-4513	CLIP-seq
MIRT1179353	hsa-miR-4639-3p	CLIP-seq
MIRT1179354	hsa-miR-4659a-3p	CLIP-seq
MIRT1179355	hsa-miR-4659b-3p	CLIP-seq
MIRT1179356	hsa-miR-4666-3p	CLIP-seq
MIRT1179357	hsa-miR-4700-3p	CLIP-seq
MIRT1179358	hsa-miR-4708-5p	CLIP-seq
MIRT1179359	hsa-miR-4744	CLIP-seq
MIRT1179360	hsa-miR-4756-3p	CLIP-seq
MIRT1179361	hsa-miR-4764-5p	CLIP-seq
MIRT1179362	hsa-miR-4770	CLIP-seq
MIRT1179363	hsa-miR-4775	CLIP-seq
MIRT1179364	hsa-miR-4778-5p	CLIP-seq
MIRT1179365	hsa-miR-5095	CLIP-seq
MIRT1179366	hsa-miR-520g	CLIP-seq
MIRT1179367	hsa-miR-520h	CLIP-seq
MIRT1179368	hsa-miR-544b	CLIP-seq
MIRT1179369	hsa-miR-548a-3p	CLIP-seq
MIRT1179370	hsa-miR-548ag	CLIP-seq
MIRT1179371	hsa-miR-548ai	CLIP-seq
MIRT1179372	hsa-miR-548e	CLIP-seq
MIRT1179373	hsa-miR-548f	CLIP-seq
MIRT1179374	hsa-miR-548g	CLIP-seq
MIRT1179375	hsa-miR-548o	CLIP-seq
MIRT1179376	hsa-miR-548u	CLIP-seq
MIRT1179377	hsa-miR-561	CLIP-seq
MIRT1179378	hsa-miR-569	CLIP-seq
MIRT1179379	hsa-miR-645	CLIP-seq
MIRT1179380	hsa-miR-942	CLIP-seq
MIRT1179381	hsa-miR-943	CLIP-seq
MIRT1179317	hsa-miR-203	CLIP-seq
MIRT1179340	hsa-miR-412	CLIP-seq
MIRT1179351	hsa-miR-4509	CLIP-seq
MIRT1179354	hsa-miR-4659a-3p	CLIP-seq
MIRT1179355	hsa-miR-4659b-3p	CLIP-seq
MIRT2051796	hsa-miR-124	CLIP-seq
MIRT2051797	hsa-miR-2054	CLIP-seq
MIRT2051798	hsa-miR-3121-5p	CLIP-seq
MIRT1179297	hsa-miR-4502	CLIP-seq
MIRT2051799	hsa-miR-491-3p	CLIP-seq
MIRT2051800	hsa-miR-506	CLIP-seq
MIRT2051801	hsa-miR-520d-5p	CLIP-seq
MIRT2051802	hsa-miR-524-5p	CLIP-seq
MIRT2051803	hsa-miR-548an	CLIP-seq
MIRT2051804	hsa-miR-548l	CLIP-seq
MIRT2051805	hsa-miR-636	CLIP-seq
MIRT2051806	hsa-miR-1263	CLIP-seq
MIRT1179310	hsa-miR-1284	CLIP-seq
MIRT2051807	hsa-miR-1297	CLIP-seq
MIRT2051808	hsa-miR-1343	CLIP-seq
MIRT2051809	hsa-miR-185	CLIP-seq
MIRT2051810	hsa-miR-223	CLIP-seq
MIRT2051811	hsa-miR-26a	CLIP-seq
MIRT2051812	hsa-miR-26b	CLIP-seq
MIRT1179321	hsa-miR-300	CLIP-seq
MIRT1179336	hsa-miR-381	CLIP-seq
MIRT2051813	hsa-miR-4306	CLIP-seq
MIRT2051814	hsa-miR-4312	CLIP-seq
MIRT2051815	hsa-miR-4317	CLIP-seq
MIRT2051816	hsa-miR-4328	CLIP-seq
MIRT2051817	hsa-miR-4465	CLIP-seq
MIRT2051818	hsa-miR-4496	CLIP-seq
MIRT2051819	hsa-miR-4644	CLIP-seq
MIRT1179356	hsa-miR-4666-3p	CLIP-seq
MIRT2051820	hsa-miR-4694-3p	CLIP-seq
MIRT1179358	hsa-miR-4708-5p	CLIP-seq
MIRT2051821	hsa-miR-4729	CLIP-seq
MIRT2051822	hsa-miR-498	CLIP-seq
MIRT2051823	hsa-miR-522	CLIP-seq
MIRT2051824	hsa-miR-532-5p	CLIP-seq
MIRT2051825	hsa-miR-616	CLIP-seq
MIRT2051826	hsa-miR-642b	CLIP-seq
MIRT2051796	hsa-miR-124	CLIP-seq
MIRT2281026	hsa-miR-1243	CLIP-seq
MIRT2281027	hsa-miR-1244	CLIP-seq
MIRT2281028	hsa-miR-1255a	CLIP-seq
MIRT2281029	hsa-miR-1255b	CLIP-seq
MIRT2281030	hsa-miR-1257	CLIP-seq
MIRT2281031	hsa-miR-1273	CLIP-seq
MIRT1179308	hsa-miR-1273f	CLIP-seq
MIRT2281032	hsa-miR-127-5p	CLIP-seq
MIRT2281033	hsa-miR-128	CLIP-seq
MIRT1179309	hsa-miR-1283	CLIP-seq
MIRT2051807	hsa-miR-1297	CLIP-seq
MIRT2281034	hsa-miR-1305	CLIP-seq
MIRT2051808	hsa-miR-1343	CLIP-seq
MIRT2281035	hsa-miR-15a	CLIP-seq
MIRT2281036	hsa-miR-15b	CLIP-seq
MIRT2281037	hsa-miR-16	CLIP-seq
MIRT2051809	hsa-miR-185	CLIP-seq
MIRT2281038	hsa-miR-195	CLIP-seq
MIRT2281039	hsa-miR-198	CLIP-seq
MIRT1179317	hsa-miR-203	CLIP-seq
MIRT2281040	hsa-miR-2116	CLIP-seq
MIRT2051810	hsa-miR-223	CLIP-seq
MIRT2051811	hsa-miR-26a	CLIP-seq
MIRT2051812	hsa-miR-26b	CLIP-seq
MIRT2281041	hsa-miR-27a	CLIP-seq
MIRT2281042	hsa-miR-27b	CLIP-seq
MIRT2281043	hsa-miR-29a	CLIP-seq
MIRT2281044	hsa-miR-29b	CLIP-seq
MIRT2281045	hsa-miR-29c	CLIP-seq
MIRT2281046	hsa-miR-3065-3p	CLIP-seq
MIRT2281047	hsa-miR-3115	CLIP-seq
MIRT2281048	hsa-miR-3120-3p	CLIP-seq
MIRT2051798	hsa-miR-3121-5p	CLIP-seq
MIRT2281049	hsa-miR-3125	CLIP-seq
MIRT2281050	hsa-miR-3134	CLIP-seq
MIRT2281051	hsa-miR-3150b-3p	CLIP-seq
MIRT2281052	hsa-miR-3177-5p	CLIP-seq
MIRT2281053	hsa-miR-3200-5p	CLIP-seq
MIRT2281054	hsa-miR-338-5p	CLIP-seq
MIRT2281055	hsa-miR-340	CLIP-seq
MIRT2281056	hsa-miR-34c-3p	CLIP-seq
MIRT2281057	hsa-miR-3609	CLIP-seq
MIRT2281058	hsa-miR-3611	CLIP-seq
MIRT2281059	hsa-miR-3613-3p	CLIP-seq
MIRT2281060	hsa-miR-362-5p	CLIP-seq
MIRT2281061	hsa-miR-3647-3p	CLIP-seq
MIRT2281062	hsa-miR-3662	CLIP-seq
MIRT2281063	hsa-miR-3691-3p	CLIP-seq
MIRT2281064	hsa-miR-376c	CLIP-seq
MIRT2281065	hsa-miR-3910	CLIP-seq
MIRT2281066	hsa-miR-3916	CLIP-seq
MIRT1179337	hsa-miR-3919	CLIP-seq
MIRT2281067	hsa-miR-3920	CLIP-seq
MIRT2281068	hsa-miR-3934	CLIP-seq
MIRT2281069	hsa-miR-3941	CLIP-seq
MIRT1179338	hsa-miR-3973	CLIP-seq
MIRT2281070	hsa-miR-3978	CLIP-seq
MIRT1179340	hsa-miR-412	CLIP-seq
MIRT2281071	hsa-miR-424	CLIP-seq
MIRT2051813	hsa-miR-4306	CLIP-seq
MIRT1179342	hsa-miR-4307	CLIP-seq
MIRT2281072	hsa-miR-4310	CLIP-seq
MIRT2051816	hsa-miR-4328	CLIP-seq
MIRT2051817	hsa-miR-4465	CLIP-seq
MIRT2281073	hsa-miR-4484	CLIP-seq
MIRT1179297	hsa-miR-4502	CLIP-seq
MIRT1179351	hsa-miR-4509	CLIP-seq
MIRT2281074	hsa-miR-4520a-3p	CLIP-seq
MIRT2281075	hsa-miR-4520b-3p	CLIP-seq
MIRT2281076	hsa-miR-4524	CLIP-seq
MIRT2281077	hsa-miR-4635	CLIP-seq
MIRT2051819	hsa-miR-4644	CLIP-seq
MIRT2281078	hsa-miR-4649-3p	CLIP-seq
MIRT1179354	hsa-miR-4659a-3p	CLIP-seq
MIRT1179355	hsa-miR-4659b-3p	CLIP-seq
MIRT2281079	hsa-miR-466	CLIP-seq
MIRT1179356	hsa-miR-4666-3p	CLIP-seq
MIRT2281080	hsa-miR-4672	CLIP-seq
MIRT2281081	hsa-miR-4689	CLIP-seq
MIRT2281082	hsa-miR-4697-3p	CLIP-seq
MIRT2051821	hsa-miR-4729	CLIP-seq
MIRT2281083	hsa-miR-4733-3p	CLIP-seq
MIRT2281084	hsa-miR-4737	CLIP-seq
MIRT2281085	hsa-miR-4753-3p	CLIP-seq
MIRT1179360	hsa-miR-4756-3p	CLIP-seq
MIRT2281086	hsa-miR-4762-3p	CLIP-seq
MIRT2281087	hsa-miR-4763-5p	CLIP-seq
MIRT2281088	hsa-miR-4768-5p	CLIP-seq
MIRT2281089	hsa-miR-4778-3p	CLIP-seq
MIRT1179364	hsa-miR-4778-5p	CLIP-seq
MIRT2281090	hsa-miR-4784	CLIP-seq
MIRT2281091	hsa-miR-497	CLIP-seq
MIRT2281092	hsa-miR-500b	CLIP-seq
MIRT2281093	hsa-miR-503	CLIP-seq
MIRT2051800	hsa-miR-506	CLIP-seq
MIRT2051801	hsa-miR-520d-5p	CLIP-seq
MIRT1179366	hsa-miR-520g	CLIP-seq
MIRT1179367	hsa-miR-520h	CLIP-seq
MIRT2051802	hsa-miR-524-5p	CLIP-seq
MIRT2281094	hsa-miR-548a-5p	CLIP-seq
MIRT2281095	hsa-miR-548ab	CLIP-seq
MIRT2281096	hsa-miR-548ac	CLIP-seq
MIRT2281097	hsa-miR-548ad	CLIP-seq
MIRT2281098	hsa-miR-548ah	CLIP-seq
MIRT2281099	hsa-miR-548ak	CLIP-seq
MIRT2051803	hsa-miR-548an	CLIP-seq
MIRT2281100	hsa-miR-548b-5p	CLIP-seq
MIRT2281101	hsa-miR-548c-5p	CLIP-seq
MIRT2281102	hsa-miR-548d-3p	CLIP-seq
MIRT2281103	hsa-miR-548d-5p	CLIP-seq
MIRT2281104	hsa-miR-548h	CLIP-seq
MIRT2281105	hsa-miR-548i	CLIP-seq
MIRT2281106	hsa-miR-548j	CLIP-seq
MIRT2281107	hsa-miR-548k	CLIP-seq
MIRT2051804	hsa-miR-548l	CLIP-seq
MIRT2281108	hsa-miR-548w	CLIP-seq
MIRT2281109	hsa-miR-548y	CLIP-seq
MIRT2281110	hsa-miR-548z	CLIP-seq
MIRT2281111	hsa-miR-550b	CLIP-seq
MIRT2281112	hsa-miR-554	CLIP-seq
MIRT2281113	hsa-miR-556-5p	CLIP-seq
MIRT2281114	hsa-miR-559	CLIP-seq
MIRT2281115	hsa-miR-562	CLIP-seq
MIRT2281116	hsa-miR-567	CLIP-seq
MIRT2281117	hsa-miR-570	CLIP-seq
MIRT2281118	hsa-miR-599	CLIP-seq
MIRT2281119	hsa-miR-607	CLIP-seq
MIRT2051825	hsa-miR-616	CLIP-seq
MIRT2281120	hsa-miR-646	CLIP-seq
MIRT2281121	hsa-miR-877	CLIP-seq
MIRT2281122	hsa-miR-889	CLIP-seq
MIRT2281123	hsa-miR-944	CLIP-seq
MIRT2281124	hsa-miR-218	CLIP-seq
MIRT2051805	hsa-miR-636	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IDA	10470015
GO:0005515	Function	Protein binding	IPI	11309420, 17987659, 25416956, 26871637, 27733623, 31515488, 32296183, 32814053
GO:0005523	Function	Tropomyosin binding	IPI	17987659
GO:0008092	Function	Cytoskeletal protein binding	IDA	10470015
GO:0008092	Function	Cytoskeletal protein binding	IPI	17987659
GO:0008307	Function	Structural constituent of muscle	NAS	9733644
GO:0030018	Component	Z disc	IBA	21873635
GO:0030018	Component	Z disc	IDA	10470015, 20951326
GO:0031005	Function	Filamin binding	IPI	17987659
GO:0031674	Component	I band	NAS	9733644
GO:0048747	Process	Muscle fiber development	IBA	21873635
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IDA	10470015
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071691	Process	Cardiac muscle thin filament assembly	IBA	21873635
GO:0071691	Process	Cardiac muscle thin filament assembly	IMP	11822876, 18823973

MIM	HGNC	e!Ensembl
605491	16932	ENSG00000078114

Protein

UniProt ID

O76041

Protein name

Nebulette (Actin-binding Z-disk protein)

Protein function

Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). ; [Is

PDB

4F14

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00880	Nebulin	35 → 62	Nebulin repeat	Repeat
PF00880	Nebulin	213 → 240	Nebulin repeat	Repeat
PF00880	Nebulin	320 → 347	Nebulin repeat	Repeat
PF00880	Nebulin	356 → 384	Nebulin repeat	Repeat
PF00880	Nebulin	432 → 456	Nebulin repeat	Repeat
PF00880	Nebulin	467 → 493	Nebulin repeat	Repeat
PF00880	Nebulin	504 → 532	Nebulin repeat	Repeat
PF00880	Nebulin	541 → 568	Nebulin repeat	Repeat
PF00880	Nebulin	576 → 599	Nebulin repeat	Repeat
PF00880	Nebulin	607 → 629	Nebulin repeat	Repeat
PF00880	Nebulin	638 → 663	Nebulin repeat	Repeat
PF00880	Nebulin	669 → 693	Nebulin repeat	Repeat
PF00880	Nebulin	732 → 758	Nebulin repeat	Repeat
PF00880	Nebulin	766 → 793	Nebulin repeat	Repeat
PF14604	SH3_9	961 → 1011	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in cardiac muscle, but not in skeletal or smooth muscle. Localized to Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such as in fibroblasts.

Sequence

MRVPVFEDIKDETEEEKIGEEENEEDQVFYKPVIEDLSMELARKCTELISDIRYKEEFKK
SKDKCTFVTDSPMLNHVKNIGAFISEAKYKGTIKADLSNSLYKRMPATIDSVFAGEVTQL
QSEVAYKQKHDAAKGFSDYAHMKEPPEVKHAMEVNKHQSNISYRKDVQDTHTYSAELDRP
DIKMATQISKIISNAEYKKGQGIMNKEPAVIGRPDFEHAVEASKLSSQIKYKEKFDNEMK
DKKHHYNPLESASFRQNQLAATLASNVKYKKDIQNMHDPVSDLPNLLFLDHVLKASKMLS
GREYKKLFEENKGMYHFDADAVEHLHHKGNAVLQSQVKYKEEYEKNKGKPMLEFVETPSY
QASKEAQKMQSEKVYKEDFEKEIKGRSSLDLDKTPEFLHVKYITNLLREKEYKKDLENEI
KGKGMELNSEVLDIQRAKRASEMASEKEYKKDLESIIKGKGMQAGTDTLEMQHAKKAAEI
ASEKDYKRDLETEIKGKGMQVSTDTLDVQRAKKASEMASQKQYKKDLENEIKGKGMQVSM
DIPDILRAKRTSEIYSQRKYKDEAEKMLSNYSTIADTPEIQRIKTTQQNISAVFYKKEVG
AGTAVKDSPEIERVKKNQQNISSVKYKEEIKHATAISDPPELKRVKENQKNISNLQYKEQ
NYKATPVSMTPEIERVRRNQEQLSAVKYKGELQRGTAISDPPELKRAKENQKNISNVYYR
GQLGRATTLSVTPEMERVKKNQENISSVKYTQDHKQMKGRPSLILDTPAMRHVKEAQNHI
SMVKYHEDFEKTKGRGFTPVVDDPVTERVRKNTQVVSDAAYKGVHPHIVEMDRRPGIIVD
LKVWRTDPGSIFDLDPLEDNIQSRSLHMLSEKASHYRRHWSRSHSSSTFGTGLGDDRSEI
SEIYPSFSCCSEVTRPSDEGAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSPNLRTYR
AMYDYSAQDEDEVSFRDGDYIVNVQPIDDGWMYGTVQRTGRTGMLPANYIEFVN

Sequence length

1014

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557 View all (6 more)	28416822
Cardiomyopathy	Cardiomyopathy, Dilated, Familial dilated cardiomyopathy, Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)	27186169
Dilated cardiomyopathy	Familial isolated dilated cardiomyopathy	rs267607003, rs267607001, rs267607002, rs267607004, rs119463990, rs587777748, rs119463991, rs119463993, rs119464997, rs267606814, rs121908334, rs121909304, rs1369919728, rs121909295, rs121909297 View all (396 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypertrophic cardiomyopathy	NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	30166627

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Evidence	References	Source
Unknown
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		28416822	ClinVar
Schizophrenia	Schizophrenia			GWAS
Eosinophilia	Eosinophilia			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Atrial Fibrillation	Atrial Fibrillation			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	35854639
Arrhythmias Cardiac	Associate	32233023
Brugada Syndrome	Associate	36303204
Carcinoma Basal Cell	Associate	23774526
Carcinoma Hepatocellular	Inhibit	32325347
Cardiomyopathies	Associate	28815794, 32233023
Colonic Neoplasms	Associate	36181111
Colorectal Neoplasms	Inhibit	28606091
Colorectal Neoplasms	Associate	29257257, 37158531
Conversion Disorder	Associate	34371182
Coronary Aneurysm	Associate	27171184
Hepatoblastoma	Associate	32325347
Leukemia	Associate	20362230
Leukemia Myeloid Acute	Associate	20362230
Long QT Syndrome	Associate	36303204
Mucocutaneous Lymph Node Syndrome	Associate	27171184
Myotonic Dystrophy	Associate	34371182
Nasopharyngeal Carcinoma	Associate	33015783
Neoplasms	Associate	18419822, 23774526, 32325347, 35854639
Pituitary Neoplasms	Associate	36233050
Polyposis Syndrome Hereditary Mixed 1	Associate	35854639

NEBL (nebulette)