• Gene id: 3930

Gene Summary

• Gene Symbol: LBR   Gene   UCSC   Ensembl
• Aliases: C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18
• Gene name: lamin B receptor
• Alternate names: delta(14)-sterol reductase LBR, 3-beta-hydroxysterol Delta (14)-reductase, C-14 sterol reductase, delta(14)-sterol reductase, delta-14-SR, integral nuclear envelope inner membrane protein, sterol C14-reductase, tudor domain containing 18,
• Gene location: 1q42.12 (225428854: 225401501)     Exons: 16     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of t
• OMIM: 600024

Protein Summary

• Protein general information: Q14739  
  • Name: Delta(14) sterol reductase LBR (Delta 14 SR) (EC 1.3.1.70) (3 beta hydroxysterol Delta (14) reductase) (C 14 sterol reductase) (C14SR) (Integral nuclear envelope inner membrane protein) (LMN2R) (Lamin B receptor) (Sterol C14 reductase)
  • Length: 615  
  • Mass: 70703
  • Tissue specificity: Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus (PubMed
• Sequence:

  MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSFRQRKGGSTSSSPSRR
  RGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPLILKPFGNSISRYNGEPEHIERNDAPHKNTQ
  EKFSLSQESSYIATQYSLRPRREEVKLKEIDSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVF
  LFLLLLMCKQKDPSLLNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY
  AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPASSGNAVYDFFIGRELN
  PRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAMILVNSFQLLYVVDALWNEEALLTTMDIIHD
  GFGFMLAFGDLVWVPFIYSFQAFYLVSHPNEVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKT
  IHTSTGKNLLVSGWWGFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE
  KYCQRVPYRIFPYIY

• Structural information:
  • Protein Domains: (1..6-)
    (/note="Tudor"-)
  • Interpro: IPR001171  IPR019023  IPR018083  IPR002999  
  • Prosite: PS01017 PS01018
  • PDB: 2DIG
  • PDBsum: 2DIG
  • DIP: 5987
  • STRING: ENSP00000339883
• Other Databases: GeneCards:  LBR  Malacards:  LBR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005637	nuclear inner membrane	IBA	cellular component
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IBA	molecular function
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0050613	delta14-sterol reductase activity	IDA	molecular function
GO:0050613	delta14-sterol reductase activity	IDA	molecular function
GO:0006695	cholesterol biosynthetic process	IMP	biological process
GO:0030223	neutrophil differentiation	ISS	biological process
GO:0070402	NADPH binding	IMP	molecular function
GO:0050613	delta14-sterol reductase activity	IMP	molecular function
GO:0050613	delta14-sterol reductase activity	IMP	molecular function
GO:0050613	delta14-sterol reductase activity	IMP	molecular function
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0005521	lamin binding	TAS	molecular function
GO:0005639	integral component of nuclear inner membrane	TAS	cellular component
GO:0050613	delta14-sterol reductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0050613	delta14-sterol reductase activity	TAS	molecular function
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005635	nuclear envelope	IEA	cellular component
GO:0030223	neutrophil differentiation	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0050613	delta14-sterol reductase activity	IEA	molecular function
GO:0070087	chromo shadow domain binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
HEM skeletal dysplasia	KEGG:H00447
Reynolds syndrome	KEGG:H01133
Pelger-Huet anomaly	KEGG:H00234
HEM skeletal dysplasia	KEGG:H00447
Reynolds syndrome	KEGG:H01133
Greenberg dysplasia	PMID:21327084
Primary biliary cirrhosis	PMID:8550049
Pelger-Huet anomaly	PMID:14617022
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray