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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23592
Gene name	LEM domain containing 3
Gene symbol	LEMD3
Synonyms (NCBI Gene)	MAN1
Chromosome	12
Chromosome location	12q14.3
Summary	This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mut

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144086377	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs267607216	G>A	Pathogenic	Stop gained, coding sequence variant
rs267607217	C>T	Pathogenic	Stop gained, coding sequence variant
rs749951964	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs867412512	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1018165800	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1415178710	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1555191350	CAGAGG>-	Likely-pathogenic	Inframe indel, stop gained, coding sequence variant
rs1555196298	C>G	Pathogenic	Missense variant, coding sequence variant
rs1565776684	G>A,C	Pathogenic	Splice donor variant
rs1565799131	G>T	Pathogenic	Stop gained, coding sequence variant
rs1592424894	->AGGAAGAG	Pathogenic	Frameshift variant, coding sequence variant
rs1592464882	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant

301

Show/Hide all (301)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018252	hsa-miR-335-5p	Microarray	18185580
MIRT020835	hsa-miR-155-5p	Proteomics	18668040
MIRT023852	hsa-miR-1-3p	Proteomics	18668040
MIRT030644	hsa-miR-22-3p	Sequencing	20371350
MIRT047520	hsa-miR-10a-5p	CLASH	23622248
MIRT047401	hsa-miR-10b-5p	CLASH	23622248
MIRT1107313	hsa-miR-1272	CLIP-seq
MIRT1107314	hsa-miR-132	CLIP-seq
MIRT1107315	hsa-miR-1322	CLIP-seq
MIRT1107316	hsa-miR-142-5p	CLIP-seq
MIRT1107317	hsa-miR-181a	CLIP-seq
MIRT1107318	hsa-miR-181b	CLIP-seq
MIRT1107319	hsa-miR-181c	CLIP-seq
MIRT1107320	hsa-miR-181d	CLIP-seq
MIRT1107321	hsa-miR-212	CLIP-seq
MIRT1107322	hsa-miR-23a	CLIP-seq
MIRT1107323	hsa-miR-23b	CLIP-seq
MIRT1107324	hsa-miR-23c	CLIP-seq
MIRT1107325	hsa-miR-3120-5p	CLIP-seq
MIRT1107326	hsa-miR-3163	CLIP-seq
MIRT1107327	hsa-miR-338-5p	CLIP-seq
MIRT1107328	hsa-miR-34b	CLIP-seq
MIRT1107329	hsa-miR-34c-3p	CLIP-seq
MIRT1107330	hsa-miR-3671	CLIP-seq
MIRT1107331	hsa-miR-371-5p	CLIP-seq
MIRT1107332	hsa-miR-371b-5p	CLIP-seq
MIRT1107333	hsa-miR-409-5p	CLIP-seq
MIRT1107334	hsa-miR-410	CLIP-seq
MIRT1107335	hsa-miR-4255	CLIP-seq
MIRT1107336	hsa-miR-4262	CLIP-seq
MIRT1107337	hsa-miR-4267	CLIP-seq
MIRT1107338	hsa-miR-4282	CLIP-seq
MIRT1107339	hsa-miR-4302	CLIP-seq
MIRT1107340	hsa-miR-4307	CLIP-seq
MIRT1107341	hsa-miR-431	CLIP-seq
MIRT1107342	hsa-miR-4326	CLIP-seq
MIRT1107343	hsa-miR-4330	CLIP-seq
MIRT1107344	hsa-miR-4463	CLIP-seq
MIRT1107345	hsa-miR-4639-3p	CLIP-seq
MIRT1107346	hsa-miR-4643	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107348	hsa-miR-4666-5p	CLIP-seq
MIRT1107349	hsa-miR-4697-3p	CLIP-seq
MIRT1107350	hsa-miR-4700-3p	CLIP-seq
MIRT1107351	hsa-miR-4720-3p	CLIP-seq
MIRT1107352	hsa-miR-4738-3p	CLIP-seq
MIRT1107353	hsa-miR-4789-3p	CLIP-seq
MIRT1107354	hsa-miR-4789-5p	CLIP-seq
MIRT1107355	hsa-miR-4795-3p	CLIP-seq
MIRT1107356	hsa-miR-4803	CLIP-seq
MIRT1107357	hsa-miR-4804-3p	CLIP-seq
MIRT1107358	hsa-miR-499-3p	CLIP-seq
MIRT1107359	hsa-miR-499a-3p	CLIP-seq
MIRT1107360	hsa-miR-513c	CLIP-seq
MIRT1107361	hsa-miR-514b-5p	CLIP-seq
MIRT1107362	hsa-miR-577	CLIP-seq
MIRT1107363	hsa-miR-579	CLIP-seq
MIRT1107364	hsa-miR-633	CLIP-seq
MIRT1107365	hsa-miR-656	CLIP-seq
MIRT1107366	hsa-miR-664	CLIP-seq
MIRT1107367	hsa-miR-7	CLIP-seq
MIRT1107313	hsa-miR-1272	CLIP-seq
MIRT1107314	hsa-miR-132	CLIP-seq
MIRT1107368	hsa-miR-1321	CLIP-seq
MIRT1107315	hsa-miR-1322	CLIP-seq
MIRT1107317	hsa-miR-181a	CLIP-seq
MIRT1107318	hsa-miR-181b	CLIP-seq
MIRT1107319	hsa-miR-181c	CLIP-seq
MIRT1107320	hsa-miR-181d	CLIP-seq
MIRT1107369	hsa-miR-1909	CLIP-seq
MIRT1107370	hsa-miR-200b	CLIP-seq
MIRT1107371	hsa-miR-200c	CLIP-seq
MIRT1107321	hsa-miR-212	CLIP-seq
MIRT1107372	hsa-miR-3064-3p	CLIP-seq
MIRT1107325	hsa-miR-3120-5p	CLIP-seq
MIRT1107326	hsa-miR-3163	CLIP-seq
MIRT1107373	hsa-miR-3200-5p	CLIP-seq
MIRT1107374	hsa-miR-320e	CLIP-seq
MIRT1107328	hsa-miR-34b	CLIP-seq
MIRT1107329	hsa-miR-34c-3p	CLIP-seq
MIRT1107375	hsa-miR-361-5p	CLIP-seq
MIRT1107330	hsa-miR-3671	CLIP-seq
MIRT1107376	hsa-miR-377	CLIP-seq
MIRT1107377	hsa-miR-3934	CLIP-seq
MIRT1107336	hsa-miR-4262	CLIP-seq
MIRT1107378	hsa-miR-4270	CLIP-seq
MIRT1107379	hsa-miR-429	CLIP-seq
MIRT1107341	hsa-miR-431	CLIP-seq
MIRT1107343	hsa-miR-4330	CLIP-seq
MIRT1107380	hsa-miR-4426	CLIP-seq
MIRT1107381	hsa-miR-4441	CLIP-seq
MIRT1107382	hsa-miR-4496	CLIP-seq
MIRT1107383	hsa-miR-4522	CLIP-seq
MIRT1107345	hsa-miR-4639-3p	CLIP-seq
MIRT1107346	hsa-miR-4643	CLIP-seq
MIRT1107384	hsa-miR-4647	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107385	hsa-miR-4662b	CLIP-seq
MIRT1107386	hsa-miR-4687-3p	CLIP-seq
MIRT1107350	hsa-miR-4700-3p	CLIP-seq
MIRT1107387	hsa-miR-4728-5p	CLIP-seq
MIRT1107352	hsa-miR-4738-3p	CLIP-seq
MIRT1107388	hsa-miR-4739	CLIP-seq
MIRT1107389	hsa-miR-4756-5p	CLIP-seq
MIRT1107390	hsa-miR-4766-5p	CLIP-seq
MIRT1107391	hsa-miR-4772-3p	CLIP-seq
MIRT1107392	hsa-miR-4774-5p	CLIP-seq
MIRT1107353	hsa-miR-4789-3p	CLIP-seq
MIRT1107354	hsa-miR-4789-5p	CLIP-seq
MIRT1107355	hsa-miR-4795-3p	CLIP-seq
MIRT1107357	hsa-miR-4804-3p	CLIP-seq
MIRT1107362	hsa-miR-577	CLIP-seq
MIRT1107393	hsa-miR-582-3p	CLIP-seq
MIRT1107364	hsa-miR-633	CLIP-seq
MIRT1107394	hsa-miR-643	CLIP-seq
MIRT1107395	hsa-miR-647	CLIP-seq
MIRT2029643	hsa-miR-1269	CLIP-seq
MIRT2029644	hsa-miR-1269b	CLIP-seq
MIRT2029645	hsa-miR-1288	CLIP-seq
MIRT1107314	hsa-miR-132	CLIP-seq
MIRT2029646	hsa-miR-1324	CLIP-seq
MIRT1107317	hsa-miR-181a	CLIP-seq
MIRT1107318	hsa-miR-181b	CLIP-seq
MIRT1107319	hsa-miR-181c	CLIP-seq
MIRT1107320	hsa-miR-181d	CLIP-seq
MIRT1107321	hsa-miR-212	CLIP-seq
MIRT1107322	hsa-miR-23a	CLIP-seq
MIRT1107323	hsa-miR-23b	CLIP-seq
MIRT1107324	hsa-miR-23c	CLIP-seq
MIRT1107374	hsa-miR-320e	CLIP-seq
MIRT1107375	hsa-miR-361-5p	CLIP-seq
MIRT1107376	hsa-miR-377	CLIP-seq
MIRT1107336	hsa-miR-4262	CLIP-seq
MIRT1107337	hsa-miR-4267	CLIP-seq
MIRT2029647	hsa-miR-4310	CLIP-seq
MIRT1107343	hsa-miR-4330	CLIP-seq
MIRT1107380	hsa-miR-4426	CLIP-seq
MIRT2029648	hsa-miR-4513	CLIP-seq
MIRT2029649	hsa-miR-4515	CLIP-seq
MIRT2029650	hsa-miR-4520b-3p	CLIP-seq
MIRT1107383	hsa-miR-4522	CLIP-seq
MIRT2029651	hsa-miR-4529-3p	CLIP-seq
MIRT1107345	hsa-miR-4639-3p	CLIP-seq
MIRT1107384	hsa-miR-4647	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107385	hsa-miR-4662b	CLIP-seq
MIRT2029652	hsa-miR-4740-5p	CLIP-seq
MIRT1107392	hsa-miR-4774-5p	CLIP-seq
MIRT1107354	hsa-miR-4789-5p	CLIP-seq
MIRT1107357	hsa-miR-4804-3p	CLIP-seq
MIRT2029653	hsa-miR-487a	CLIP-seq
MIRT1107358	hsa-miR-499-3p	CLIP-seq
MIRT1107359	hsa-miR-499a-3p	CLIP-seq
MIRT2029654	hsa-miR-510	CLIP-seq
MIRT2029655	hsa-miR-512-5p	CLIP-seq
MIRT1107362	hsa-miR-577	CLIP-seq
MIRT1107363	hsa-miR-579	CLIP-seq
MIRT1107364	hsa-miR-633	CLIP-seq
MIRT1107365	hsa-miR-656	CLIP-seq
MIRT1107366	hsa-miR-664	CLIP-seq
MIRT1107373	hsa-miR-3200-5p	CLIP-seq
MIRT1107376	hsa-miR-377	CLIP-seq
MIRT1107338	hsa-miR-4282	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107390	hsa-miR-4766-5p	CLIP-seq
MIRT1107354	hsa-miR-4789-5p	CLIP-seq
MIRT2260532	hsa-miR-513b	CLIP-seq
MIRT1107313	hsa-miR-1272	CLIP-seq
MIRT1107314	hsa-miR-132	CLIP-seq
MIRT1107315	hsa-miR-1322	CLIP-seq
MIRT2260533	hsa-miR-154	CLIP-seq
MIRT1107317	hsa-miR-181a	CLIP-seq
MIRT1107318	hsa-miR-181b	CLIP-seq
MIRT1107319	hsa-miR-181c	CLIP-seq
MIRT1107320	hsa-miR-181d	CLIP-seq
MIRT1107321	hsa-miR-212	CLIP-seq
MIRT2260534	hsa-miR-3074-3p	CLIP-seq
MIRT1107326	hsa-miR-3163	CLIP-seq
MIRT1107328	hsa-miR-34b	CLIP-seq
MIRT1107329	hsa-miR-34c-3p	CLIP-seq
MIRT1107330	hsa-miR-3671	CLIP-seq
MIRT1107331	hsa-miR-371-5p	CLIP-seq
MIRT1107332	hsa-miR-371b-5p	CLIP-seq
MIRT2260535	hsa-miR-421	CLIP-seq
MIRT2260536	hsa-miR-4260	CLIP-seq
MIRT1107336	hsa-miR-4262	CLIP-seq
MIRT1107345	hsa-miR-4639-3p	CLIP-seq
MIRT1107346	hsa-miR-4643	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107350	hsa-miR-4700-3p	CLIP-seq
MIRT2260537	hsa-miR-4709-5p	CLIP-seq
MIRT1107390	hsa-miR-4766-5p	CLIP-seq
MIRT2260538	hsa-miR-4775	CLIP-seq
MIRT1107353	hsa-miR-4789-3p	CLIP-seq
MIRT1107354	hsa-miR-4789-5p	CLIP-seq
MIRT1107355	hsa-miR-4795-3p	CLIP-seq
MIRT1107362	hsa-miR-577	CLIP-seq
MIRT2260539	hsa-miR-590-3p	CLIP-seq
MIRT2260540	hsa-miR-635	CLIP-seq
MIRT1107313	hsa-miR-1272	CLIP-seq
MIRT1107314	hsa-miR-132	CLIP-seq
MIRT1107315	hsa-miR-1322	CLIP-seq
MIRT2260533	hsa-miR-154	CLIP-seq
MIRT1107317	hsa-miR-181a	CLIP-seq
MIRT1107318	hsa-miR-181b	CLIP-seq
MIRT1107319	hsa-miR-181c	CLIP-seq
MIRT1107320	hsa-miR-181d	CLIP-seq
MIRT2560556	hsa-miR-1827	CLIP-seq
MIRT1107370	hsa-miR-200b	CLIP-seq
MIRT1107371	hsa-miR-200c	CLIP-seq
MIRT1107321	hsa-miR-212	CLIP-seq
MIRT2560557	hsa-miR-25	CLIP-seq
MIRT2560558	hsa-miR-300	CLIP-seq
MIRT1107372	hsa-miR-3064-3p	CLIP-seq
MIRT2260534	hsa-miR-3074-3p	CLIP-seq
MIRT2560559	hsa-miR-3115	CLIP-seq
MIRT2560560	hsa-miR-3199	CLIP-seq
MIRT2560561	hsa-miR-32	CLIP-seq
MIRT2560562	hsa-miR-330-3p	CLIP-seq
MIRT1107328	hsa-miR-34b	CLIP-seq
MIRT1107329	hsa-miR-34c-3p	CLIP-seq
MIRT2560563	hsa-miR-363	CLIP-seq
MIRT2560564	hsa-miR-3646	CLIP-seq
MIRT2560565	hsa-miR-367	CLIP-seq
MIRT2560566	hsa-miR-381	CLIP-seq
MIRT2560567	hsa-miR-3941	CLIP-seq
MIRT2260535	hsa-miR-421	CLIP-seq
MIRT1107336	hsa-miR-4262	CLIP-seq
MIRT1107338	hsa-miR-4282	CLIP-seq
MIRT1107379	hsa-miR-429	CLIP-seq
MIRT2560568	hsa-miR-433	CLIP-seq
MIRT1107343	hsa-miR-4330	CLIP-seq
MIRT1107380	hsa-miR-4426	CLIP-seq
MIRT2560569	hsa-miR-4446-5p	CLIP-seq
MIRT2560570	hsa-miR-4457	CLIP-seq
MIRT1107345	hsa-miR-4639-3p	CLIP-seq
MIRT1107346	hsa-miR-4643	CLIP-seq
MIRT1107384	hsa-miR-4647	CLIP-seq
MIRT2560571	hsa-miR-4649-3p	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107385	hsa-miR-4662b	CLIP-seq
MIRT2560572	hsa-miR-4666-3p	CLIP-seq
MIRT2560573	hsa-miR-4672	CLIP-seq
MIRT2560574	hsa-miR-4699-3p	CLIP-seq
MIRT2260537	hsa-miR-4709-5p	CLIP-seq
MIRT2260538	hsa-miR-4775	CLIP-seq
MIRT1107353	hsa-miR-4789-3p	CLIP-seq
MIRT2560575	hsa-miR-494	CLIP-seq
MIRT2260532	hsa-miR-513b	CLIP-seq
MIRT2560576	hsa-miR-517a	CLIP-seq
MIRT2560577	hsa-miR-517b	CLIP-seq
MIRT2560578	hsa-miR-517c	CLIP-seq
MIRT2560579	hsa-miR-518a-5p	CLIP-seq
MIRT2560580	hsa-miR-527	CLIP-seq
MIRT2560581	hsa-miR-548p	CLIP-seq
MIRT1107362	hsa-miR-577	CLIP-seq
MIRT2260539	hsa-miR-590-3p	CLIP-seq
MIRT2560582	hsa-miR-92a	CLIP-seq
MIRT2560583	hsa-miR-92b	CLIP-seq
MIRT1107313	hsa-miR-1272	CLIP-seq
MIRT1107315	hsa-miR-1322	CLIP-seq
MIRT2260533	hsa-miR-154	CLIP-seq
MIRT1107317	hsa-miR-181a	CLIP-seq
MIRT1107318	hsa-miR-181b	CLIP-seq
MIRT1107319	hsa-miR-181c	CLIP-seq
MIRT1107320	hsa-miR-181d	CLIP-seq
MIRT2560558	hsa-miR-300	CLIP-seq
MIRT1107372	hsa-miR-3064-3p	CLIP-seq
MIRT2260534	hsa-miR-3074-3p	CLIP-seq
MIRT2560559	hsa-miR-3115	CLIP-seq
MIRT1107326	hsa-miR-3163	CLIP-seq
MIRT2560560	hsa-miR-3199	CLIP-seq
MIRT1107328	hsa-miR-34b	CLIP-seq
MIRT1107329	hsa-miR-34c-3p	CLIP-seq
MIRT2560564	hsa-miR-3646	CLIP-seq
MIRT2683859	hsa-miR-3674	CLIP-seq
MIRT2560566	hsa-miR-381	CLIP-seq
MIRT2683860	hsa-miR-3935	CLIP-seq
MIRT2560567	hsa-miR-3941	CLIP-seq
MIRT2260535	hsa-miR-421	CLIP-seq
MIRT1107336	hsa-miR-4262	CLIP-seq
MIRT1107338	hsa-miR-4282	CLIP-seq
MIRT1107343	hsa-miR-4330	CLIP-seq
MIRT1107380	hsa-miR-4426	CLIP-seq
MIRT2560569	hsa-miR-4446-5p	CLIP-seq
MIRT2560570	hsa-miR-4457	CLIP-seq
MIRT1107345	hsa-miR-4639-3p	CLIP-seq
MIRT1107346	hsa-miR-4643	CLIP-seq
MIRT1107384	hsa-miR-4647	CLIP-seq
MIRT1107347	hsa-miR-466	CLIP-seq
MIRT1107385	hsa-miR-4662b	CLIP-seq
MIRT2560572	hsa-miR-4666-3p	CLIP-seq
MIRT2560573	hsa-miR-4672	CLIP-seq
MIRT2560574	hsa-miR-4699-3p	CLIP-seq
MIRT2260537	hsa-miR-4709-5p	CLIP-seq
MIRT2260538	hsa-miR-4775	CLIP-seq
MIRT1107353	hsa-miR-4789-3p	CLIP-seq
MIRT2260532	hsa-miR-513b	CLIP-seq
MIRT2560581	hsa-miR-548p	CLIP-seq
MIRT1107362	hsa-miR-577	CLIP-seq
MIRT2260539	hsa-miR-590-3p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15231748, 15647271, 24407287, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IDA	15647271
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	TAS	10671519
GO:0016020	Component	Membrane	IDA	10671519
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10671519
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	15647271
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	15647271
GO:0031965	Component	Nuclear membrane	IDA
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IDA	15647271
GO:1990446	Function	U1 snRNP binding	IBA

MIM	HGNC	e!Ensembl
607844	28887	ENSG00000174106

Q9Y2U8

Protein name

Inner nuclear membrane protein Man1 (LEM domain-containing protein 3)

Protein function

Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

PDB

2CH0 , 5ZOJ , 5ZOK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03020	LEM	8 → 47	LEM domain	Domain
PF09402	MSC	520 → 750	Man1-Src1p-C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver and skeletal muscle.

Sequence

MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRG
NKTRNSNNNNTAAATVAAAGPAAAAAAGMGVRPVSGDLSYLRTPGGLCRISASGPESLLG
GPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWA
SRTVNGSRLVPYSCRENYSDSEEEDDDDVASSRQVLKDDSLSRHRPRRTHSKPLPPLTAK
SAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASS
SLRINHANHTGSNHTYLKNTYNKPKLSEPEEELLQQFKREEVSPTGSFSAHYLSMFLLTA
ACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKDLGPEYEGIFNTSLQWILENGKDVGIRCVGFGPEE
ELTNITDVQFLQSTRPLMSFWCRFRRAFVTVTHRLLLLCLGVVMVCVVLRYMKYRWTKEE
EETRQMYDMVVKIIDVLRSHNEACQENKDLQPYMPIPHVRDSLIQPHDRKKMKKVWDRAV
DFLAANESRVRTETRRIGGADFLVWRWIQPSASCDKILVIPSKVWQGQAFHLDRRNSPPN
SLTPCLKIRNMFDPVMEIGDQWHLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLS
PEYAGKAFKALHGSWFDGKLVTVKYLRLDRYHHRFPQALTSNTPLKPSNKHMNSMSHLRL
RTGLTNSQGSS

Sequence length

911

Interactions

View interactions

	Reactome
			Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerisation of the Nuclear Lamina

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral arteriovenous malformation	Pathogenic	rs1555196298	RCV000656326	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatofibrosis lenticularis disseminata	Likely pathogenic; Pathogenic	rs1565791664, rs2136353868, rs2136354792, rs2136354664, rs2136354786, rs2136313188, rs2136313349, rs2136355335, rs267607216, rs1565799131, rs1592464882, rs1870837900	RCV001782380 RCV001814821 RCV005415481 RCV002247149 RCV002251692 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatofibrosis lenticularis disseminata, isolated	Pathogenic	rs267607217, rs1565776684	RCV000002886 RCV000002887	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEMD3-related disorder	Pathogenic; Likely pathogenic	rs2136313585, rs2498938371	RCV003418258 RCV003408401	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melorheostosis with osteopoikilosis	Pathogenic	rs1870100373, rs267607217	RCV000002880 RCV000002885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopoikilosis	Pathogenic	rs1018165800, rs2136355335	RCV000002877 RCV000002883	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
12Q14 MICRODELETION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUSCHKE-OLLENDORFF SYNDROME	—	CTD, ClinVar, HPO CTD, ClinVar, HPO CTD, ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gorham-Stout disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOIKILOSIS, ISOLATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIETZE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (87)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
12q14 microdeletion syndrome	12q14 microdeletion syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achondroplasia	Achondroplasia	BEFREE	8742128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17087626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17087626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	23779087, 26135202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29695157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Buschke-Ollendorff syndrome	Buschke-Ollendorff Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	BEFREE	16079417, 24474243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	16079417, 24474243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9295073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	BEFREE	15489854, 16470551, 17087626, 19438932, 19862465, 20083694, 20678097, 20732851, 26135202, 29023873, 31129707		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	ORPHANET_DG	15489854		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	GENOMICS_ENGLAND_DG	15489854, 9295073		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	CLINVAR_DG	16470551		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED	Dermatofibrosis Lenticularis Disseminata	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatologic disorders	Dermatologic Disorders	BEFREE	24252515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19277063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse skin atrophy	Diffuse skin atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	19277063, 8078586, 8742128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	20618940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19277063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	20618940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	28449239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated osteopoikilosis	Isolated Osteopoikilosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	32003753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	8078586, 8742128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melorheostosis	Melorheostosis	BEFREE	15489854, 16470551, 17622481, 19438932, 26135202, 28676968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melorheostosis	Melorheostosis	LHGDN	16470551, 17622481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melorheostosis	Melorheostosis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melorheostosis with Osteopoikilosis	Melorheostosis With Osteopoikilosis	ORPHANET_DG	15489854, 17087626		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melorheostosis with osteopoikilosis	Melorheostosis With Osteopoikilosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melorheostosis with Osteopoikilosis	Melorheostosis With Osteopoikilosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MELORHEOSTOSIS, ISOLATED	Melorheostosis	GENOMICS_ENGLAND_DG	15489854, 9295073		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	16470551, 17087626, 17622481, 19438932, 28434888, 31129707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed sclerosing bone dystrophy	Mixed Sclerosing Bone Dystrophy	ORPHANET_DG	15489854, 17087626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	15681850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	12684533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24980784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	28434888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopoikilosis	Osteopoikilosis	Pubtator	15601644, 17087626, 17220210, 19762329, 20618940, 27267960, 28434888, 28840995, 31990479	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopoikilosis (disorder)	Osteopoikilosis	BEFREE	15489854, 16470551, 17087626, 17220210, 17622481, 19277063, 19438932, 19762329, 19862465, 20618940, 20678097, 21267005, 26135202, 26694706, 28407409 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopoikilosis (disorder)	Osteopoikilosis	LHGDN	17622481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopoikilosis (disorder)	Osteopoikilosis	ORPHANET_DG	26694706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopoikilosis (disorder)	Osteopoikilosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopoikilosis, Isolated	Osteopoikilosis	ORPHANET_DG	26694706		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	BEFREE	28434888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	28434888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	28434888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27267960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31129707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	10671519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	28203683	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	26415001		★★★★★ ★☆☆☆☆ Found in Text Mining only

LEMD3 (LEM domain containing 3)