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LMBR1 Gene

protein-coding   GIFtS: 51
GCID: GC07M156468

Limb Development Membrane Protein 1

(Previous names: chromosome 7 open reading frame 2, limb region 1 homolog...)
(Previous symbol: C7orf2)
  See LMBR1-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)
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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 GC07M156473 GC07M150206


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 radial hemimelia, bilateral, and triphalangeal thumb. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for LMBR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC07M156468:  view genomic region     (about GC identifiers)

Start:
156,461,646 bp from pter      End:
156,685,924 bp from pter
Size:
224,279 bases      Orientation:
minus strand

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LMBR1_HUMAN, Q8WVP7 (See protein sequence)
Recommended Name: Limb region 1 protein homolog  
Size: 490 amino acids; 55098 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LMBR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    LMBR1 Human Recombinant Protein Products:

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    Novus Biologicals LMBR1 Proteins
    Novus Biologicals LMBR1 Lysates
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    Cloud-Clone Corp. Proteins for LMBR1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with LMBR1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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/body  limbs/digits/tail  mortality/aging  normal  skeleton 

    Find genes that share phenotypes with LMBR1           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LMBR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
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    miRTarBase miRNAs that target LMBR1:
    hsa-mir-21-5p (MIRT030809)

    Block miRNA regulation of human, mouse, rat LMBR1 using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for LMBR1
    Predesigned siRNA for gene silencing in human, mouse, rat LMBR1

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    OriGene ORF clones in mouse, rat for LMBR1
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    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

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMBR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LMBR1_HUMAN, Q8WVP7: Membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with LMBR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LMBR1
    Interactions:

        GeneGlobe Interaction 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:    About this table

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

    Find genes that share ontologies with LMBR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000430825 ENST00000609081 ENST00000353442(uc003wmv.4 uc003wmw.4 uc010lqn.3 uc003wmx.4 uc011kvx.2)
    ENST00000609774 ENST00000448926 ENST00000415428 ENST00000454132 ENST00000434503
    ENST00000461603 ENST00000486837 ENST00000477983 ENST00000430278 ENST00000434278
    ENST00000444719 ENST00000461469 ENST00000414218 ENST00000434453 ENST00000498034

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LMBR1 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat LMBR1
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for LMBR1
    OriGene qSTAR qPCR primer pairs in human, mouse for LMBR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LMBR1
      QuantiTect SYBR Green Assays in human, mouse, rat LMBR1
      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 

    Selected AceView cDNA sequences (see all 327):

    BQ216023 Z41409 BU154247 AA024900 AI564770 Z42220 AW169922 AL834394 
    AA953932 BU581197 F07384 CA424842 AA443876 BQ640210 AA307337 N77075 
    R13181 BM681681 BX646283 AF348513 F01749 AI635585 CF995163 BU161657 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    LMBR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LMBR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.209989

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

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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LMBR1 gene from Selected species (see all 14)    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
    limb development membrane protein 1
    91(a)
    1 ↔ 1
    6(6301785-6345002)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lmbr11 limb development membrane protein 1 74.19(n)
    81.57(a)
      496578  NM_001011160.1  NP_001011160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lmbr11 limb region 1 homolog (mouse) 71.32(n)
    80.29(a)
      557300  NM_001252604.1  NP_001239533.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58076
    --
    40(a)
    1 → many
    3R(20631167-20639734)
    worm
    (Caenorhabditis elegans)
    Secernentea R05D3.26
    Protein R05D3.2 (R05D3.2) mRNA, complete cds
    23(a)
    1 → many
    III(8372255-8375189) WBGene00019877


    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)
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    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

    Find genes that share paralogs with LMBR1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LMBR1 (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 (156461646 - 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
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing LMBR1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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]: A form of syndactyly, a congenital anomaly of the hand or foot marked
    by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is
    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. 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

  • 17 diseases for LMBR1:    
    About MalaCards
    radial hemimelia, bilateral    triphalangeal thumb    polydactyly of a triphalangeal thumb, bilateral    adactyly of foot, bilateral
    triphalangeal thumb, type i    adactyly of foot, unilateral    triphalangeal thumb polysyndactyly syndrome    polydactyly of a triphalangeal thumb, unilateral
    acheiropody    syndactyly type 4    polydactyly, preaxial type ii    hypoplastic tibiae - postaxial polydactyly
    radial hemimelia, unilateral    acropectoral syndrome    polydactyly    cblf
    syndactyly

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

    Find genes that share disorders with LMBR1           About GenesLikeMe

    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)
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    PubMed articles for LMBR1 gene, integrated from 10 sources (see all 40):
    (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. (Am. J. Hum. Genet. 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. (Genomics 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. (Hum. Mol. Genet. 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. (Mol. Med. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 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. (Genetics 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. (Biochem. Biophys. Res. Commun. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 64327 HGNC: 13243 AceView: C7orf2 Ensembl:ENSG00000105983 euGenes: HUgn64327
    ECgene: LMBR1 H-InvDB: LMBR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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