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LBR lamin B receptor [ Homo sapiens (human) ]

Gene ID: 3930, updated on 26-Jun-2015
Official Symbol
LBRprovided by HGNC
Official Full Name
lamin B receptorprovided by HGNC
Primary source
HGNC:HGNC:6518
See related
Ensembl:ENSG00000143815; HPRD:02488; MIM:600024; Vega:OTTHUMG00000037520
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHA; LMN2R; TDRD18; DHCR14B
Summary
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 this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Orthologs
Location:
1q42.1
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (225401502..225428855, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225589204..225616557, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373109 Neighboring gene dynein, axonemal, heavy chain 14 Neighboring gene uncharacterized LOC105373110 Neighboring gene enabled homolog (Drosophila)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Greenberg dysplasia
MedGen: C1300226 OMIM: 215140 GeneReviews: Not available
Compare labs
Pelger-Huet anomaly
MedGen: C0030779 OMIM: 169400 GeneReviews: Not available
Compare labs
Reynolds syndrome
MedGen: C0748397 OMIM: 613471 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with lamin B receptor in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

Go to the HIV-1, Human Interaction Database

  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
  • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
    Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC9041, FLJ43126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromo shadow domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
lamin binding TAS
Traceable Author Statement
more info
PubMed 
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of nuclear inner membrane TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
lamin-B receptor
Names
lamin-B receptor
integral nuclear envelope inner membrane protein
tudor domain containing 18

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008099.1 RefSeqGene

    Range
    4963..32316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002296.3NP_002287.2  lamin-B receptor

    See identical proteins and their annotated locations for NP_002287.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AU134026, BC020079, L25931
    Consensus CDS
    CCDS1545.1
    UniProtKB/Swiss-Prot
    Q14739
    Related
    ENSP00000272163, OTTHUMP00000035631, ENST00000272163, OTTHUMT00000091398
    Conserved Domains (2) summary
    cd04508
    Location:956
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cl21511
    Location:205615
    PEMT; Phospholipid methyltransferase
  2. NM_194442.2NP_919424.1  lamin-B receptor

    See identical proteins and their annotated locations for NP_919424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC020079, DA447510, DB091880, L25931
    Consensus CDS
    CCDS1545.1
    UniProtKB/Swiss-Prot
    Q14739
    Related
    ENSP00000339883, ENST00000338179
    Conserved Domains (2) summary
    cd04508
    Location:956
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cl21511
    Location:205615
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    225401502..225428855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273125.2XP_005273182.1  

    Conserved Domains (2) summary
    cd04508
    Location:956
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cl21511
    Location:205573
    PEMT; Phospholipid methyltransferase
  2. XM_011544186.1XP_011542488.1  

    Conserved Domains (2) summary
    cd04508
    Location:956
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cl21511
    Location:205588
    PEMT; Phospholipid methyltransferase
  3. XM_011544185.1XP_011542487.1  

    See identical proteins and their annotated locations for XP_011542487.1

    Conserved Domains (2) summary
    cd04508
    Location:956
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cl21511
    Location:205615
    PEMT; Phospholipid methyltransferase
  4. XM_011544187.1XP_011542489.1  

    Conserved Domains (2) summary
    cd04508
    Location:956
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cl21511
    Location:205364
    PEMT; Phospholipid methyltransferase

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    226861554..226888910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)