Lbr Gene Summary [Mouse]
Enables Delta14-sterol reductase activity and chromatin-protein adaptor activity. Involved in cholesterol biosynthetic process; neutrophil differentiation; and random inactivation of X chromosome. Located in nuclear membrane. Is active in nuclear lamina. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver. Used to study Pelger-Huet anomaly; ichthyosis vulgaris; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Lbr |
| Official Name | lamin B receptor [Source:MGI Symbol;Acc:MGI:2138281] |
| Ensembl ID | ENSMUSG00000004880 |
| Bio databases IDs | |
| Aliases | lamin B receptor |
| Synonyms | C14SR, C1orf197, DHCR14B, ic, lamin B receptor, LMN2R, Nbp60, PHA, PHASK, TDRD18 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Lbr often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arginine serine dipeptide repeat domain
- Lamin-B receptor of TUDOR domain
- globular domain
- protein binding activity, bridging
- nuclear localization sequence
- lamin binding
- protein domain specific binding
- enzyme
- protein binding
- nuclear localization sequence binding
- delta14-sterol reductase
- DNA binding
- Isoprenylcysteine carboxyl methyltransferase (ICMT) family
- NADPH binding
- D14-sterol reductase
- chaperone binding
- Tudor domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Pelger-Huet anomaly
- Pelger-Huet anomaly with mild skeletal anomalies
- Greenberg dysplasia
- Reynolds syndrome
- Pelger-Huet anomaly due to lamin B receptor mutation
- rhizomelic skeletal dysplasia without Pelger-Huet anomaly
- Jeune syndrome
- rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- allergic rhinitis
phenotypes
- abnormal B cell physiology
- abnormal T cell physiology
- abnormal blood cell morphology/development
- abnormal cell nucleus morphology
- abnormal coat/ hair morphology
- abnormal eosinophil morphology
- abnormal epidermal layer morphology
- abnormal epidermis stratum corneum morphology
- abnormal epidermis stratum granulosum morphology
- abnormal eye physiology
- abnormal granulocyte differentiation
- abnormal granulocyte morphology
- abnormal hair growth
- abnormal immune system cell morphology
- abnormal kidney morphology
- abnormal long bone epiphyseal plate morphology
- abnormal lymphocyte cell number
- abnormal lymphocyte morphology
- abnormal nervous system morphology
- abnormal neutrophil differentiation
- abnormal neutrophil morphology
- abnormal nuclear lamina morphology
- abnormal renal glomerulus morphology
- abnormal respiration
- abnormal rib morphology
- abnormal skin condition
- abnormal spleen morphology
- abnormal trabecular bone morphology
- abnormal vibrissa morphology
- constricted vagina orifice
- cryptorchism
- decreased B cell number
- decreased CD4-positive alpha beta T cell number
- decreased CD8-positive alpha-beta T cell number
- decreased T cell number
- decreased T cell proliferation
- decreased body size
- decreased leukocyte cell number
- decreased lymphocyte cell number
- decreased subcutaneous adipose tissue amount
- decreased vocalization
- delayed hair appearance
- dilated lateral ventricles
- dilated piliary canal
- dry skin
- enlarged lateral ventricles
- enlarged lymph nodes
- enlarged spleen
- epidermal hyperplasia
- epidermis stratum spinosum hyperplasia
- female infertility
- gliosis
- glomerulosclerosis
- hydrocephaly
- hyperkeratosis
- increased anti-chromatin antibody level
- increased anti-nuclear antigen antibody level
- increased autoantibody level
- increased keratohyalin granule size
- increased mitochondrial fission
- increased neuron apoptosis
- increased susceptibility to systemic lupus erythematosus
- lymph node hypoplasia
- male infertility
- orthokeratosis
- perinatal lethality
- perinatal lethality incomplete penetrance
- postnatal growth retardation
- postnatal lethality
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality
- prenatal lethality incomplete penetrance
- reduced female fertility
- reduced male fertility
- renal interstitial fibrosis
- scaly skin
- scoliosis
- short vibrissae
- sparse hair
- spleen hypoplasia
- syndactyly
- tail necrosis
- thymus hypoplasia
- uterus hypoplasia
role in cell
- binding
- accumulation in
- binding in
- stimulation
- assembly
- proliferation
- differentiation
- development
- transcription in
- assembly in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- Cytoplasm
- perinuclear region
- cellular membrane
- endoplasmic reticulum membrane
- nuclear pores
- inner nuclear membrane
- nucleoplasm
- nuclear envelope
- nuclear lamina
- sperm head
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lbr gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol biosynthetic process
- neutrophil differentiation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear envelope
- nucleus
- nuclear inner membrane
- nuclear membrane
- cytoplasm
- membrane
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA binding
- protein binding
- chromo shadow domain binding
- NADPH binding
- lamin binding
- delta14-sterol reductase activity