• Gene id: 221496

Gene Summary

• Gene Symbol: LEMD2   Gene   UCSC   Ensembl
• Aliases: CTRCT42, LEM2, NET25, dJ482C21.1
• Gene name: LEM domain nuclear envelope protein 2
• Alternate names: LEM domain-containing protein 2, LEM domain containing 2, hLEM2, lamina-associated polypeptide-emerin-MAN1 domain containing 2,
• Gene location: 6p21.31 (33794273: 33771212)     Exons: 10     NC_000006.12
• Gene summary(Entrez): 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,
• OMIM: 616312

Protein Summary

• Protein general information: Q8NC56  
  • Name: LEM domain containing protein 2 (hLEM2)
  • Length: 503  
  • Mass: 56975
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAGLSDLELRRELQALGFQPGPITDTTRDVYRNKLRRLRGEARLRDEERLREEARPRGEERLREEARLREDAPLR
  ARPAAASPRAEPWLSQPASGSAYATPGAYGDIRPSAASWVGSRGLAYPARPAQLRRRASVRGSSEEDEDARTPDR
  ATQGPGLAARRWWAASPAPARLPSSLLGPDPRPGLRATRAGPAGAARARPEVGRRLERWLSRLLLWASLGLLLVF
  LGILWVKMGKPSAPQEAEDNMKLLPVDCERKTDEFCQAKQKAALLELLHELYNFLAIQAGNFECGNPENLKSKCI
  PVMEAQEYIANVTSSSSAKFEAALTWILSSNKDVGIWLKGEDQSELVTTVDKVVCLESAHPRMGVGCRLSRALLT
  AVTNVLIFFWCLAFLWGLLILLKYRWRKLEEEEQAMYEMVKKIIDVVQDHYVDWEQDMERYPYVGILHVRDSLIP
  PQSRRRMKRVWDRAVEFLASNESRIQTESHRVAGEDMLVWRWTKPSSFSDSER

• Structural information:
  • Protein Domains: (2..4-)
    (/note="LEM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00313"-)
  • Interpro: IPR011015  IPR003887  IPR034994  IPR041885  IPR018996  
  • Prosite: PS50954
  • STRING: ENSP00000293760
• Other Databases: GeneCards:  LEMD2  Malacards:  LEMD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005639	integral component of nuclear inner membrane	IDA	cellular component
GO:0035914	skeletal muscle cell differentiation	IGI	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0060914	heart formation	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0000785	chromatin	IDA	colocalizes with
GO:0005783	endoplasmic reticulum	IDA	colocalizes with
GO:0005635	nuclear envelope	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0005637	nuclear inner membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0071168	protein localization to chromatin	IMP	biological process
GO:0030514	negative regulation of BMP signaling pathway	IBA	biological process
GO:0006998	nuclear envelope organization	IMP	biological process
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0006998	nuclear envelope organization	IEA	biological process
GO:1902531	regulation of intracellular signal transduction	IEA	biological process

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq