• Gene id: 84823

Gene Summary

• Gene Symbol: LMNB2   Gene   UCSC   Ensembl
• Aliases: EPM9, LAMB2, LMN2
• Gene name: lamin B2
• Alternate names: lamin-B2, epididymis secretory sperm binding protein, lamin B3,
• Gene location: 19p13.3 (2456958: 2428165)     Exons: 12     NC_000019.10
• Gene summary(Entrez): This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis
• OMIM: 612597

Protein Summary

• Protein general information: Q03252  
  • Name: Lamin B2
  • Length: 620  
  • Mass: 69948
• Sequence:

  MSPPSPGRRREQRRPRAAATMATPLPGRAGGPATPLSPTRLSRLQEKEELRELNDRLAHYIDRVRALELENDRLL
  LKISEKEEVTTREVSGIKALYESELADARRVLDETARERARLQIEIGKLRAELDEVNKSAKKREGELTVAQGRVK
  DLESLFHRSEVELAAALSDKRGLESDVAELRAQLAKAEDGHAVAKKQLEKETLMRVDLENRCQSLQEELDFRKSV
  FEEEVRETRRRHERRLVEVDSSRQQEYDFKMAQALEELRSQHDEQVRLYKLELEQTYQAKLDSAKLSSDQNDKAA
  SAAREELKEARMRLESLSYQLSGLQKQASAAEDRIRELEEAMAGERDKFRKMLDAKEQEMTEMRDVMQQQLAEYQ
  ELLDVKLALDMEINAYRKLLEGEEERLKLSPSPSSRVTVSRATSSSSGSLSATGRLGRSKRKRLEVEEPLGSGPS
  VLGTGTGGSGGFHLAQQASASGSVSIEEIDLEGKFVQLKNNSDKDQSLGNWRIKRQVLEGEEIAYKFTPKYILRA
  GQMVTVWAAGAGVAHSPPSTLVWKGQSSWGTGESFRTVLVNADGEEVAMRTVKKSSVMRENENGEEEEEEAEFGE
  EDLFHQQGDPRTTSRGCYVM

• Structural information:
  • Protein Domains: (46..40-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188-)
    (462..57-)
    (/note="LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01187"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR001322  IPR036415  
  • Prosite: PS00226 PS51842 PS51841
  • PDB: 2LLL 5BNW
  • PDBsum: 2LLL 5BNW
  • DIP: 57724
  • STRING: ENSP00000327054
• Other Databases: GeneCards:  LMNB2  Malacards:  LMNB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005638	lamin filament	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Familial partial lipodystrophy	KEGG:H00420
Progressive myoclonic epilepsy	KEGG:H00810
Familial partial lipodystrophy	KEGG:H00420
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq