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lamin B receptor

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

3930

KEGG Gene ID

PubChem

3930

Alliance of Genome Resources

HGNC:6518

Annotation

Keyword

3D-structure
Acetylation
Cholesterol biosynthesis
Cytoplasm
DNA-binding
Disease variant
Dwarfism
Endoplasmic reticulum
Nucleus
Oxidoreductase
Phosphoprotein
Proteomics identification
Receptor
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q14739	3-beta-hydroxysterol Delta (14)-reductase C-14 sterol reductase Integral nuclear envelope inner membrane protein LMN2R Lamin-B receptor Sterol C14-reductase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
cholesterol biosynthetic process	TAS
cholesterol biosynthetic process	IDA
cholesterol biosynthetic process	IMP
cholesterol biosynthetic process	IBA
cholesterol biosynthetic process	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

sterol biosynthetic process

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

zymosterol metabolic process [inference]

zymosterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol metabolic process [inference]

zymosterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cholesterol biosynthetic process via desmosterol

zymosterol biosynthetic process

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

granulocyte differentiation [inference]

neutrophil differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

granulocyte differentiation [inference]

neutrophil differentiation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

chromatin organization [inference]

chromatin remodeling [inference]

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

heterochromatin organization [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

cellular component assembly [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

granulocyte differentiation [inference]

neutrophil differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

granulocyte differentiation [inference]

neutrophil differentiation

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome [inference]

random inactivation of X chromosome

Displaying entries **6 - 10** of 20 in total

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GO Term	Evidence Code	PMID
nuclear inner membrane	TAS
nuclear inner membrane	IDA
nuclear inner membrane	IBA
nuclear inner membrane	IEA
nuclear lamina	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle inner membrane [inference]

nuclear inner membrane

nuclear membrane

nuclear inner membrane

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
DNA binding	TAS
RNA binding	HDA
protein binding	IPI
lamin binding	TAS
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the CH-CH group of donors [inference]

oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor

Delta14-sterol reductase activity

binding [inference]

nucleic acid binding [inference]

protein binding

lamin binding

protein domain specific binding [inference]

chromo shadow domain binding

small molecule binding [inference]

ion binding [inference]

anion binding [inference]

NADPH binding

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding [inference]

NADPH binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding [inference]

NADPH binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity [inference]

chromatin-protein adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

DELTA(14)-STEROL REDUCTASE

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 7** entries
Gene Ontology
cholesterol biosynthetic process
lipid metabolic process
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
oxidoreductase activity
steroid biosynthetic process
steroid metabolic process
sterol biosynthetic process

Displaying **all 2** entries
InterPro
Sterol biosynthesis ERG24/DHCR-like
Sterol reductase, conserved site

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:9631	Pelger-Huet anomaly	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia	Alliance of Genome Resources