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	221496
Gene name	LEM domain nuclear envelope protein 2
Gene symbol	LEMD2
Synonyms (NCBI Gene)	CTRCT42LEM2MARUPSNET25dJ482C21.1
Chromosome	6
Chromosome location	6p21.31
Summary	This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46,

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SNP ID	Visualize variation	Clinical significance	Consequence
rs878852983	A>C,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050421	hsa-miR-23a-3p	CLASH	23622248
MIRT648637	hsa-miR-8060	HITS-CLIP	23824327
MIRT648636	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT648635	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT648634	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT648633	hsa-miR-570-3p	HITS-CLIP	23824327
MIRT648632	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT648631	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT648630	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT648629	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT648628	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT648627	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT648626	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT648625	hsa-miR-544a	HITS-CLIP	23824327
MIRT648624	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT648637	hsa-miR-8060	HITS-CLIP	23824327
MIRT648636	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT648635	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT648634	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT648633	hsa-miR-570-3p	HITS-CLIP	23824327
MIRT648632	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT648631	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT648630	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT648629	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT648628	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT648627	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT648626	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT648625	hsa-miR-544a	HITS-CLIP	23824327
MIRT648624	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT1107281	hsa-miR-124	CLIP-seq
MIRT1107282	hsa-miR-128	CLIP-seq
MIRT1107283	hsa-miR-1297	CLIP-seq
MIRT1107284	hsa-miR-1539	CLIP-seq
MIRT1107285	hsa-miR-26a	CLIP-seq
MIRT1107286	hsa-miR-26b	CLIP-seq
MIRT1107287	hsa-miR-27a	CLIP-seq
MIRT1107288	hsa-miR-27b	CLIP-seq
MIRT1107289	hsa-miR-3074-5p	CLIP-seq
MIRT1107290	hsa-miR-3157-5p	CLIP-seq
MIRT1107291	hsa-miR-3193	CLIP-seq
MIRT1107292	hsa-miR-338-3p	CLIP-seq
MIRT1107293	hsa-miR-342-5p	CLIP-seq
MIRT1107294	hsa-miR-4422	CLIP-seq
MIRT1107295	hsa-miR-4465	CLIP-seq
MIRT1107296	hsa-miR-4493	CLIP-seq
MIRT1107297	hsa-miR-4508	CLIP-seq
MIRT1107298	hsa-miR-4530	CLIP-seq
MIRT1107299	hsa-miR-4537	CLIP-seq
MIRT1107300	hsa-miR-4640-3p	CLIP-seq
MIRT1107301	hsa-miR-4664-5p	CLIP-seq
MIRT1107302	hsa-miR-4675	CLIP-seq
MIRT1107303	hsa-miR-4690-3p	CLIP-seq
MIRT1107304	hsa-miR-4724-5p	CLIP-seq
MIRT1107305	hsa-miR-4741	CLIP-seq
MIRT1107306	hsa-miR-4746-3p	CLIP-seq
MIRT1107307	hsa-miR-4753-5p	CLIP-seq
MIRT1107308	hsa-miR-4786-3p	CLIP-seq
MIRT1107309	hsa-miR-506	CLIP-seq
MIRT1107310	hsa-miR-664	CLIP-seq
MIRT1107311	hsa-miR-671-5p	CLIP-seq
MIRT1107312	hsa-miR-802	CLIP-seq
MIRT1107293	hsa-miR-342-5p	CLIP-seq
MIRT1107301	hsa-miR-4664-5p	CLIP-seq
MIRT1107307	hsa-miR-4753-5p	CLIP-seq
MIRT1107281	hsa-miR-124	CLIP-seq
MIRT1107282	hsa-miR-128	CLIP-seq
MIRT1107287	hsa-miR-27a	CLIP-seq
MIRT1107288	hsa-miR-27b	CLIP-seq
MIRT2260527	hsa-miR-3194-5p	CLIP-seq
MIRT2260528	hsa-miR-3619-3p	CLIP-seq
MIRT1107296	hsa-miR-4493	CLIP-seq
MIRT2260529	hsa-miR-4717-3p	CLIP-seq
MIRT2260530	hsa-miR-4776-5p	CLIP-seq
MIRT2260531	hsa-miR-4802-3p	CLIP-seq
MIRT1107309	hsa-miR-506	CLIP-seq
MIRT2560550	hsa-miR-146a	CLIP-seq
MIRT2560551	hsa-miR-146b-5p	CLIP-seq
MIRT2560552	hsa-miR-3920	CLIP-seq
MIRT2560553	hsa-miR-4293	CLIP-seq
MIRT2560554	hsa-miR-4712-3p	CLIP-seq
MIRT2560555	hsa-miR-589	CLIP-seq
MIRT2683855	hsa-miR-1184	CLIP-seq
MIRT2560550	hsa-miR-146a	CLIP-seq
MIRT2560551	hsa-miR-146b-5p	CLIP-seq
MIRT2560552	hsa-miR-3920	CLIP-seq
MIRT2683856	hsa-miR-4252	CLIP-seq
MIRT2560553	hsa-miR-4293	CLIP-seq
MIRT2683857	hsa-miR-4691-3p	CLIP-seq
MIRT2560554	hsa-miR-4712-3p	CLIP-seq
MIRT2560555	hsa-miR-589	CLIP-seq
MIRT2683858	hsa-miR-596	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	28242692
GO:0005515	Function	Protein binding	IPI	28242692, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	28242692
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IDA	16339967
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	TAS	28242692
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	28242692
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006998	Process	Nuclear envelope organization	IMP	17097643
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	28242692
GO:0022008	Process	Neurogenesis	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034399	Component	Nuclear periphery	IBA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IGI	19720741
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060914	Process	Heart formation	IEA
GO:0071168	Process	Protein localization to chromatin	IMP	28242692
GO:0071763	Process	Nuclear membrane organization	IBA

MIM	HGNC	e!Ensembl
616312	21244	ENSG00000161904

Q8NC56

Protein name

LEM domain-containing protein 2 (hLEM2)

Protein function

Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:16339967, PubMed:17097643, PubMed:28242692, PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03020	LEM	1 → 39	LEM domain	Domain
PF09402	MSC	241 → 495	Man1-Src1p-C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, including bone marrow, brain, kidney, colon, skeletal muscle, thymus, testis and uterus. {ECO:0000269|PubMed:16339967}.

Sequence

MAGLSDLELRRELQALGFQPGPITDTTRDVYRNKLRRLRGEARLRDEERLREEARPRGEE
RLREEARLREDAPLRARPAAASPRAEPWLSQPASGSAYATPGAYGDIRPSAASWVGSRGL
AYPARPAQLRRRASVRGSSEEDEDARTPDRATQGPGLAARRWWAASPAPARLPSSLLGPD
PRPGLRATRAGPAGAARARPEVGRRLERWLSRLLLWASLGLLLVFLGILWVKMGKPSAPQ
EAEDNMKLLPVDCERKTDEFCQAKQKAALLELLHELYNFLAIQAGNFECGNPENLKSKCI
PVMEAQEYIANVTSSSSAKFEAALTWILSSNKDVGIWLKGEDQSELVTTVDKVVCLESAH
PRMGVGCRLSRALLTAVTNVLIFFWCLAFLWGLLILLKYRWRKLEEEEQAMYEMVKKIID
VVQDHYVDWEQDMERYPYVGILHVRDSLIPPQSRRRMKRVWDRAVEFLASNESRIQTESH
RVAGEDMLVWRWTKPSSFSDSER

Sequence length

503

Interactions

View interactions

	Reactome
			Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerisation of the Nuclear Lamina Sealing of the nuclear envelope (NE) by ESCRT-III

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 46 juvenile-onset	Pathogenic	rs878852983	RCV000224057

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Developmental cataract	Uncertain significance	rs913693615	RCV001775018
LEMD2-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs3833665, rs111606296, rs199730949, rs144268907, rs903917824, rs201742534, rs541228010, rs190194338	RCV003976090 RCV003926473 RCV003926606 RCV003981573 RCV003951553 RCV003926044 RCV003940622 RCV003940621
Marbach-Rustad progeroid syndrome	Conflicting classifications of pathogenicity	rs1767330976	RCV001391659

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	35650630
Alzheimer's disease without Neurofibrillary tangles	Inhibit	36001963
Cataract	Associate	36161833
Cataract Nuclear Progressive	Associate	30905398
Developmental Disabilities	Associate	38098057
Genetic Diseases Inborn	Associate	30905398
Growth Disorders	Associate	30905398
Jaw Diseases	Associate	30905398
Neoplasms	Associate	35650630
Progeria	Associate	30905398
Tremor	Associate	30905398

LEMD2 (LEM domain nuclear envelope protein 2)