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.	23592
Gene name Gene Name - the full gene name approved by the HGNC.	LEM domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LEMD3
Synonyms (NCBI Gene) Gene synonyms aliases	MAN1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q14.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15231748, 15647271, 24407287, 28514442, 32296183
GO:0005637	Component	Nuclear inner membrane	IDA	15647271
GO:0005639	Component	Integral component of nuclear inner membrane	IBA	21873635
GO:0006998	Process	Nuclear envelope organization	IBA	21873635
GO:0016020	Component	Membrane	TAS	10671519
GO:0016021	Component	Integral component of membrane	IDA	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	IBA	21873635
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	15647271
GO:0031490	Function	Chromatin DNA binding	IBA	21873635
GO:0031965	Component	Nuclear membrane	IDA
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IDA	15647271
GO:1902531	Process	Regulation of intracellular signal transduction	IEA

MIM	HGNC	e!Ensembl
607844	28887	ENSG00000174106

Protein

UniProt ID

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

Show/Hide Causal Diseases (15)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Dermatofibrosis lenticularis disseminata	Dermatofibrosis lenticularis disseminata, DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED	rs2136313349, rs2136355335, rs267607216, rs267607217, rs1565776684, rs1565799131, rs1592464882	15489854, 9295073, 16470551
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Hemangioma	Hemangioma	rs121917766
Hypertension	Hypertensive disease	rs13306026
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Osteopoikilosis	Osteopoikilosis (disorder), Osteopoikilosis, Isolated	rs1018165800, rs2136355335	26694706
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)
Renal insufficiency	Renal Insufficiency	rs1596536873
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar
Specific learning disorder	Specific learning disability	ClinVar
Melorheostosis With Osteopoikilosis	melorheostosis with osteopoikilosis	GenCC
Isolated Osteopoikilosis	isolated osteopoikilosis	GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer's disease without Neurofibrillary tangles	Inhibit	36001963
Bone Diseases	Associate	17087626
Buschke Ollendorff syndrome	Associate	15601644, 17087626, 27267960, 35642708
Carcinoma Non Small Cell Lung	Associate	24980784
Developmental Disabilities	Associate	19277063
Exostoses Multiple Hereditary	Associate	20618940
Liver Cirrhosis	Associate	32003753
Melorheostosis	Associate	15601644
Mixed sclerosing bone dystrophy	Associate	17087626
Muscular Dystrophy Emery Dreifuss	Associate	15681850
Osteopoikilosis	Associate	15601644, 17087626, 17220210, 19762329, 20618940, 27267960, 28434888, 28840995, 31990479
Osteosclerosis	Associate	28434888
Skin Diseases	Associate	27267960
Vascular Diseases	Associate	10671519
Venous Thromboembolism	Associate	28203683

LEMD3 (LEM domain containing 3)