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LBR lamin B receptor [ Homo sapiens (human) ]

Gene ID: 3930, updated on 27-Sep-2014
Official Symbol
LBRprovided by HGNC
Official Full Name
lamin B receptorprovided by HGNC
Primary source
HGNC:HGNC:6518
Locus tag
PRO0650
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]
Location:
1q42.1
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC102723817 Neighboring gene cornichon family AMPA receptor auxiliary protein 3 Neighboring gene dynein, axonemal, heavy chain 14 Neighboring gene enabled homolog (Drosophila) Neighboring gene uncharacterized LOC102723834

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Greenberg dysplasia
MedGen: C1300226 OMIM: 215140 GeneReviews: Not available
Compare labs
Pelger-Hu t anomaly
OMIM: 169400GeneReviews: Not available
Pelger-Hut anomaly
MedGen: C0030779 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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
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 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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
tudor domain containing 18
integral nuclear envelope inner membrane protein

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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 ...
    pfam01222
    Location:205615
    ERG4_ERG24; Ergosterol biosynthesis ERG4/ERG24 family
  2. NM_194442.2NP_919424.1  lamin-B receptor

    See proteins identical to 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 ...
    pfam01222
    Location:205615
    ERG4_ERG24; Ergosterol biosynthesis ERG4/ERG24 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

mRNA and Protein(s)

  1. XM_005273125.1XP_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 ...
    pfam01222
    Location:205573
    ERG4_ERG24; Ergosterol biosynthesis ERG4/ERG24 family

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    196108169..196135525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

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