Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LMBR1 Gene

protein-coding   GIFtS: 51
GCID: GC07M156473

Limb Development Membrane Protein 1

(Previous names: chromosome 7 open reading frame 2, limb region 1 homolog...)
(Previous symbol: C7orf2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Limb Development Membrane Protein 11 2     Chromosome 7 Open Reading Frame 21
C7orf21 2 3 5     Limb Region 1 Homolog (Mouse)1
Differentiation-Related Gene 14 Protein2 3     TPT2
DIF142 3     ZRS2
ACHP2 5     Limb Region 1 Homolog2
PPD22 5     Limb Region 1 Protein Homolog2

External Ids:    HGNC: 132431   Entrez Gene: 643272   Ensembl: ENSG000001059837   OMIM: 6055225   UniProtKB: Q8WVP73   

Export aliases for LMBR1 gene to outside databases

Previous GC identifers: GC07M155974 GC07M156166 GC07M150206


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LMBR1 Gene:
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has
been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the
sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can
alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly
in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated
with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. (provided
by RefSeq, Jul 2008)

GeneCards Summary for LMBR1 Gene: 
LMBR1 (limb development membrane protein 1) is a protein-coding gene. Diseases associated with LMBR1 include triphalangeal thumb, and triphalangeal thumb polysyndactyly syndrome. An important paralog of this gene is LMBR1L.

UniProtKB/Swiss-Prot: LMBR1_HUMAN, Q8WVP7
Function: Putative membrane receptor

Gene Wiki entry for LMBR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007741.14  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LMBR1 gene promoter:
         AP-1   Brachyury   NF-kappaB   Roaz   E2F-1   E2F   COMP1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): LMBR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LMBR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMBR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q36   Ensembl cytogenetic band:  7q36.3   HGNC cytogenetic band: 7q36.3

LMBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMBR1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M156473:  view genomic region     (about GC identifiers)

Start:
156,473,570 bp from pter      End:
156,685,924 bp from pter
Size:
212,355 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 155,702,965-155,915,305     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LMBR1_HUMAN, Q8WVP7 (See protein sequence)
Recommended Name: Limb region 1 protein homolog  
Size: 490 amino acids; 55098 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=AAD43188.1; Type=Erroneous initiation; Sequence=AAK31345.1; Type=Erroneous initiation;
Sequence=BAB15595.1; Type=Erroneous initiation;
Secondary accessions: A4D242 Q8N3E3 Q96QZ5 Q9H5N0 Q9HAG9 Q9UDN5 Q9Y6U2
Alternative splicing: 3 isoforms:  Q8WVP7-1   Q8WVP7-2   Q8WVP7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LMBR1: NX_Q8WVP7

Explore proteomics data for LMBR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WVP7

  • LMBR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LMBR1 Protein Expression
    REFSEQ proteins: NP_071903.2  
    ENSEMBL proteins: 
     ENSP00000326604   ENSP00000403052   ENSP00000408256   ENSP00000414795   ENSP00000395754  
     ENSP00000413539   ENSP00000393928   ENSP00000392557   ENSP00000397698   ENSP00000445509  
     ENSP00000346500   ENSP00000352392  

    Human Recombinant Protein Products for LMBR1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for LMBR1
    OriGene Protein Over-expression Lysate for LMBR1
    OriGene MassSpec for LMBR1 
    OriGene Custom Protein Services for LMBR1
    GenScript Custom Purified and Recombinant Proteins Services for LMBR1
    Novus Biologicals LMBR1 Proteins
    Novus Biologicals LMBR1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LMBR1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    LMBR1 for ontologies           About GeneDecksing



    LMBR1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for LMBR1
    GenScript Custom Superior Antibodies Services for LMBR1
    Novus Biologicals LMBR1 Antibodies
    Abcam antibodies for LMBR1
    Cloud-Clone Corp. Antibodies for LMBR1 
    Search ThermoFisher Antibodies for LMBR1
    LSBio Antibodies in human, mouse, rat for LMBR1 

    Assay Products for LMBR1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LMBR1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LMBR1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LMBR1 
    Cloud-Clone Corp. CLIAs for LMBR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006876 LMBR1-like_membr_prot
     IPR008075 Lipcalin_1_rcpt

    Graphical View of Domain Structure for InterPro Entry Q8WVP7

    ProtoNet protein and cluster: Q8WVP7

    1 Blocks protein domain: IPB008075 Lipocalin-1 interacting membrane receptor signature

    UniProtKB/Swiss-Prot: LMBR1_HUMAN, Q8WVP7
    Similarity: Belongs to the LIMR family


    LMBR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LMBR1_HUMAN, Q8WVP7
    Function: Putative membrane receptor

    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Lmbr1):

     growth/size  limbs/digits/tail  mortality/aging  normal  skeleton 

    LMBR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LMBR1: Lmbr1tm1Kng Lmbr1tm1Dgen

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LMBR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LMBR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LMBR1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LMBR1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMBR1
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate LMBR1 (see all 30):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-539 hsa-miR-4288 hsa-miR-4263 hsa-miR-200a hsa-miR-30d hsa-miR-632
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LMBR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMBR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LMBR1
    Sirion Biotech Customized adenovirus for overexpression of LMBR1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for LMBR1 (see all 9)
    OriGene ORF clones in mouse, rat for LMBR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LMBR1 (NM_018113)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMBR1
    Sirion Biotech Customized lentivirus for stable overexpression of LMBR1 
                         Customized lentivirus expression plasmids for stable overexpression of LMBR1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for LMBR1
    Search LifeMap BioReagents cell lines for LMBR1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMBR1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMBR1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for LMBR1 (ENSP000003266044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042733embryonic digit morphogenesis IEA--

    LMBR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LMBR1

    Search CenterWatch for drugs/clinical trials and news about LMBR1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LMBR1 gene: 
    NM_022458.3  

    Unigene Cluster for LMBR1:

    Limb region 1 homolog (mouse)
    Hs.209989  [show with all ESTs]
    Unigene Representative Sequence: NM_022458
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000353442(uc003wmv.4 uc003wmw.4 uc010lqn.3 uc003wmx.4 uc011kvx.2)
    ENST00000448926 ENST00000415428 ENST00000454132 ENST00000434503 ENST00000461603
    ENST00000486837 ENST00000477983 ENST00000430278 ENST00000434278 ENST00000444719
    ENST00000461469 ENST00000414218 ENST00000434453 ENST00000498034 ENST00000433968
    ENST00000485985 ENST00000540390
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMBR1
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate LMBR1 (see all 30):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-539 hsa-miR-4288 hsa-miR-4263 hsa-miR-200a hsa-miR-30d hsa-miR-632
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LMBR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMBR1
    Clone
    Products:
         
    OriGene clones in human, mouse for LMBR1 (see all 9)
    OriGene ORF clones in mouse, rat for LMBR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LMBR1 (NM_018113)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMBR1
    Sirion Biotech Customized lentivirus for stable overexpression of LMBR1 
                         Customized lentivirus expression plasmids for stable overexpression of LMBR1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LMBR1
    OriGene qSTAR qPCR primer pairs in human, mouse for LMBR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LMBR1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMBR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMBR1

    Additional mRNA sequence: 

    AF107454.1 AF348513.1 AF402318.1 AK021727.1 AK026940.1 AK291037.1 AK299753.1 AL833934.1 
    AL834394.1 BC017663.1 

    14 DOTS entries:

    DT.95289892  DT.451549  DT.100787498  DT.100787501  DT.91747886  DT.101965988  DT.101967722  DT.95155233 
    DT.95289913  DT.101955944  DT.101961163  DT.121107056  DT.121107076  DT.91920205 

    24/327 AceView cDNA sequences (see all 327):

    BQ216023 BM827637 W46782 AA307511 Z45760 BM719075 BG740584 AA307337 
    BU154247 BC017663 AI023953 NM_022458 BG260993 BM681681 BQ005160 T82305 
    BU616589 Z41495 AA765394 Z42220 Z39986 AA282393 AW169922 F11062 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for LMBR1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
    SP1:                                            -     -                 -                                               -                 -                     
    SP2:                          -     -           -     -                 -           -                                   -                 -                     
    SP3:                          -     -                 -                 -           -                                                                           
    SP4:                          -     -           -     -                                                                                                         
    SP5:                          -                 -     -                                                                                                         

    ExUns: 19a · 19b ^ 20a · 20b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for LMBR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LMBR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LMBR1 Expression
    About this image


    See LMBR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LMBR1

    SOURCE GeneReport for Unigene cluster: Hs.209989

    UniProtKB/Swiss-Prot: LMBR1_HUMAN, Q8WVP7
    Tissue specificity: Widely expressed with strongest expression in heart and pancreas

        SABiosciences Custom PCR Arrays for LMBR1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for LMBR1
    OriGene qSTAR qPCR primer pairs in human, mouse for LMBR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LMBR1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMBR1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMBR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMBR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LMBR1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lmbr11 , 5 limb region 11, 5 89.73(n)1
    96.12(a)1
      5 (14.81 cM)5
    568731  NM_020295.31  NP_064691.21 
     292298145 
    chicken
    (Gallus gallus)
    Aves LMBR11 limb region 1 homolog (mouse) 83.02(n)
    92.16(a)
      373986  NM_204172.1  NP_989503.1 
    lizard
    (Anolis carolinensis)
    Reptilia LMBR16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    6(6301785-6345002)
    zebrafish
    (Danio rerio)
    Actinopterygii lmbr11 limb region 1 homolog (mouse) 71.32(n)
    80.29(a)
      557300  XM_001922771.2  XP_001922806.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58076
    --
    39(a)
    1 → many
    3R(20631167-20639734)
    worm
    (Caenorhabditis elegans)
    Secernentea R05D3.26
    LIMR family protein R05D3.2
    23(a)
    1 → many
    III(8372255-8375189)


    ENSEMBL Gene Tree for LMBR1 (if available)
    TreeFam Gene Tree for LMBR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LMBR1 gene
    LMBR1L2  
    3 SIMAP similar genes for LMBR1 using alignment to 10 protein entries:     LMBR1_HUMAN (see all proteins):
    C7orf2    DKFZp547F222    LMBR1L

    LMBR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4417 SNPs in LMBR1 are shown (see all 4417)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001408471,2
    --150247544(+) AACAT-/CACCATCA 1 -- cds10--------
    rs1116148131,2
    C--150248691(+) ATACTTTAA/-  
            
    TTTTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs724870261,2
    C--150250306(+) ATAGC-/TGTG  
            
    TGTGT
    1 -- int10--------
    rs1467746851,2
    C--150250306(+) ATAGC-/TGT   
       GTGTG
    TGTGT
    1 -- int10--------
    rs2012697241,2
    C--150250306(+) ATAGC-/TGTGTG
            
    TGTGT
    1 -- int10--------
    rs2003749691,2
    C--150261092(-) ATAATA/GAAAAA 1 -- int10--------
    rs795972121,2
    C--150266243(+) AGGGAT/CTTCAT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs340968631,2
    C--150366244(+) AATAC-/AAAAAA 1 -- int10--------
    rs355115121,2
    C--150384688(+) AAAAA-/ACACTA 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs764212081,2
    F--150400598(-) TTTCCC/TGAGCA 1 -- int11Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for LMBR1 (156473570 - 156685924 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for LMBR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735651CNV Deletion23290073
    esv2660160CNV Deletion23128226
    esv2676333CNV Deletion23128226
    esv2668849CNV Deletion23128226
    esv268871CNV Insertion20981092
    nsv6020CNV Insertion18451855
    nsv889568CNV Loss21882294
    nsv831198CNV Loss17160897


    Human Gene Mutation Database (HGMD): LMBR1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing LMBR1
    DNA2.0 Custom Variant and Variant Library Synthesis for LMBR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605522   
    OMIM disorders: 200500  174500  186200  
    UniProtKB/Swiss-Prot: LMBR1_HUMAN, Q8WVP7
  • Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx.
    The thumb in PPD2 is usually opposable and possesses a normal metacarpal. Note=The disease is caused by mutations
    affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The
    mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of
    SHH expression contained in LMBR1 intron 5 (PubMed:12837695)
  • Acheiropody (ACHP) [MIM:200500]: Very rare condition characterized by bilateral congenital amputations of
    the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis
    of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones
    of the hands and feet. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Syndactyly 4 (SDTY4) [MIM:186200]: Very rare congenital distal limb malformation characterized by
    complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six
    metacarpals and six digits) has been reported. Feet are affected occasionally. The condition is inherited as an
    autosomal dominant trait. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression
    and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5

  • 13 diseases for LMBR1:    About MalaCards
    triphalangeal thumb    triphalangeal thumb polysyndactyly syndrome    acropectoral syndrome    acheiropody
    adactyly of foot, bilateral    triphalangeal thumb, type i    adactyly of foot, unilateral    polydactyly, preaxial type ii
    congenital amputation    cblf    syndactyly type 4    polydactyly
    syndactyly

    3 diseases from the University of Copenhagen DISEASES database for LMBR1:
    Polydactyly     Acheiropody     Syndactyly

    LMBR1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for LMBR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polydactyly 91.3 6 11606546 (2), 16650944 (2), 18689889 (1), 17300748 (1)

    Genetic Association Database (GAD): LMBR1
    Human Genome Epidemiology (HuGE) Navigator: LMBR1 (1 document)

    Export disorders for LMBR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LMBR1 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with LMBR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. (PubMed id 11090342)1, 2, 3, 9 Ianakiev P....Tsipouras P. (2001)
    2. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (PubMed id 10329000)1, 2, 3 Heus H.C.... Heutink P. (1999)
    3. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. (PubMed id 12837695)1, 2, 9 Lettice L.A.... de Graaff E. (2003)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    9. Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. (PubMed id 11606546)1, 9 Clark R.M....Kingsley D.M. (2001)
    10. A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. (PubMed id 17300748)1, 9 Wang Z.Q....Kong X. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64327 HGNC: 13243 AceView: C7orf2 Ensembl:ENSG00000105983 euGenes: HUgn64327
    ECgene: LMBR1 H-InvDB: LMBR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LMBR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LMBR1 gene:
    Search GeneIP for patents involving LMBR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for LMBR1  
     OriGene qPCR primer pairs and template standards for LMBR1   OriGene Protein Over-expression Lysate for LMBR1  
     OriGene MassSpec something-or-other for LMBR1   OriGene clones in human, mouse for LMBR1  
     OriGene qSTAR qPCR primer pairs in human, mouse for LMBR1   OriGene Purified Protein for LMBR1  
     OriGene ORF clones in mouse, rat for LMBR1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for LMBR1   OriGene Custom Protein Services for LMBR1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LMBR1
     QIAGEN SeqTarget long-range PCR primers for resequencing LMBR1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMBR1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMBR1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMBR1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMBR1
     GenScript Custom Purified and Recombinant Proteins Services for LMBR1 GenScript cDNA clones with any tag delivered in your preferred vector for LMBR1
     GenScript Custom Assay Services for LMBR1 GenScript Custom Superior Antibodies Services for LMBR1
     GenScript Custom overexpressing Cell Line Services for LMBR1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in LMBR1 promoter
     Search Chromatin IP Primers for LMBR1
     RT2 qPCR Primer Assay in human, mouse, rat LMBR1
     GNC Network for LMBR1
     SABiosciences Custom PCR Arrays for LMBR1
     Search Tocris compounds for LMBR1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     LMBR1 antibodies
     LMBR1 proteins
     LMBR1 lysates
     Antibodies for LMBR1
     See all of Abcam's Antibodies, Kits and Proteins for LMBR1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for LMBR1
     Antibodies for LMBR1
     ELISAs for LMBR1
     CLIAs for LMBR1
     Search LifeMap BioReagents cell lines for LMBR1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMBR1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for LMBR1
     SwitchGear Promoter luciferase reporter plasmids for LMBR1
     Search ThermoFisher Antibodies for LMBR1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMBR1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for LMBR1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LMBR1
    Customized:
     lentivirus for stable overexpression of LMBR1
     lentivirus expression plasmids for stable overexpression of LMBR1
     adenovirus for overexpression of LMBR1
     LSBio Antibodies in human, mouse, rat for LMBR1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      LMBR1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4