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GPR126 Gene

protein-coding   GIFtS: 52
GCID: GC06P142622

G Protein-Coupled Receptor 126

Pneumococci & Pneumococcal Diseases Congress
  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)
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Aliases
G Protein-Coupled Receptor 1261 2     APG12
VIGR2 3 5     PS1TP22
Developmentally Regulated G-Protein-Coupled Receptor2 3     G-Protein Coupled Receptor 1262
Vascular Inducible G Protein-Coupled Receptor2 3     HBV PreS1-Transactivated Protein 22
DREG2 3     Vascular-Inducible G Protein-Coupled Receptor2

External Ids:    HGNC: 138411   Entrez Gene: 572112   Ensembl: ENSG000001124147   OMIM: 6122435   UniProtKB: Q86SQ43   

Export aliases for GPR126 gene to outside databases

Previous GC identifers: GC06P142571 GC06P142603 GC06P142664 GC06P140189


(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 GPR126 Gene:
This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor.
Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins
have been found for this gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for GPR126 Gene:
GPR126 (G protein-coupled receptor 126) is a protein-coding gene. Diseases associated with GPR126 include food allergy, and endotheliitis. GO annotations related to this gene include G-protein coupled receptor activity. An important paralog of this gene is GPR97.

UniProtKB/Swiss-Prot: GP126_HUMAN, Q86SQ4
Function: Orphan receptor. May be required for normal differentiation of promyelinating Schwann cells and for
normal myelination of axons. Signals probably through G-proteins to transiently elevate cAMP levels (By
similarity)

Gene Wiki entry for GPR126 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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Regulatory elements:
   Regulatory transcription factor binding sites in the GPR126 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   AML1a   FOXO3   Nkx3-1 v1   STAT5A   AREB6   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPR126 promoter sequence
   Search Chromatin IP Primers for GPR126

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GPR126


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

Entrez Gene cytogenetic band: 6q24.1   Ensembl cytogenetic band:  6q24.1   HGNC cytogenetic band: 6q23.1-q24.3

GPR126 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPR126 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P142622:  view genomic region     (about GC identifiers)

Start:
142,622,991 bp from pter      End:
142,767,403 bp from pter
Size:
144,413 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GP126_HUMAN, Q86SQ4 (See protein sequence)
Recommended Name: G-protein coupled receptor 126 precursor  
Size: 1221 amino acids; 136695 Da
Sequence caution: Sequence=AAO13250.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
Sequence=BAB55406.1; Type=Erroneous initiation; Sequence=BAC11393.1; Type=Erroneous initiation;
Sequence=CAE45930.1; Type=Erroneous initiation; Sequence=CAI20053.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5TGN7 Q6DHZ4 Q6F3F5 Q6F3F6 Q6F3F7 Q6F3F8 Q6MZU7 Q8IXA4 Q8NC14 Q96JW0
Alternative splicing: 4 isoforms:  Q86SQ4-1   Q86SQ4-2   Q86SQ4-3   Q86SQ4-4   

Explore the universe of human proteins at neXtProt for GPR126: NX_Q86SQ4

Explore proteomics data for GPR126 at MOPED

Post-translational modifications: 

  • Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the
    extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a
    seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment.
    Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site1
  • Glycosylation2 at Asn121, Asn143, Asn206, Asn258, Asn314, Asn324, Asn353, Asn438, Asn445, Asn452,
                                 Asn485, Asn488, Asn505, Asn563, Asn593, Asn600, Asn605, Asn667, Asn673, Asn695 (see all 25)
  • Modification sites at PhosphoSitePlus

  • See GPR126 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001027566.1  NP_001027567.1  NP_065188.4  NP_940971.1  

    ENSEMBL proteins: 
     ENSP00000230173   ENSP00000356580   ENSP00000296932   ENSP00000356581   ENSP00000446287  
     ENSP00000438366   ENSP00000444123   ENSP00000439371  

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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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    HGNC Gene Families:
    GPCRBO: GPCR / Class B : Orphans

    IUPHAR Guide to PHARMACOLOGY protein family classification: GPR126
    Adhesion Class GPCRs

    Selected InterPro protein domains (see all 8):
     IPR013320 ConA-like_subgrp
     IPR001759 Pentaxin
     IPR000832 GPCR_2_secretin-like
     IPR000859 CUB_dom
     IPR017983 GPCR_2_secretin-like_CS

    Graphical View of Domain Structure for InterPro Entry Q86SQ4

    ProtoNet protein and cluster: Q86SQ4

    4 Blocks protein domains:
    IPB000203 GPS domain
    IPB000832 G-protein coupled receptors family 2 (secretin-like)
    IPB000859 CUB domain
    IPB001759 Pentaxin


    UniProtKB/Swiss-Prot: GP126_HUMAN, Q86SQ4
    Similarity: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily
    Similarity: Contains 1 CUB domain
    Similarity: Contains 1 GPS domain
    Similarity: Contains 1 pentaxin domain


    GPR126 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GP126_HUMAN, Q86SQ4
    Function: Orphan receptor. May be required for normal differentiation of promyelinating Schwann cells and for
    normal myelination of axons. Signals probably through G-proteins to transiently elevate cAMP levels (By
    similarity)
    Induction: Up-regulated by bacterial lipopolysaccharides (LPS) and thrombin, but not by other inflammatory stimuli
    in primary umbilical veins

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity IEA--
         
    GPR126 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gpr126):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  skeleton 

    GPR126 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gpr126tm1Lex for GPR126

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GPR126
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GPR126

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GPR126
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GPR126

    miRNA
    Products:
        
    miRTarBase miRNAs that target GPR126:
    hsa-mir-26b-5p (MIRT028896), hsa-mir-192-5p (MIRT026223), hsa-mir-99a-5p (MIRT048625), hsa-mir-215-5p (MIRT024308)

    Block miRNA regulation of human, mouse, rat GPR126 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GPR126 (see all 10):
    hsa-miR-27a hsa-miR-128 hsa-miR-4263 hsa-miR-3681* hsa-miR-587 hsa-miR-513b hsa-miR-550b hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidGPR126 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GPR126
    Predesigned siRNA for gene silencing in human, mouse, rat GPR126

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GPR126

    Clone
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    OriGene clones in human, mouse for GPR126 (see all 21)
    OriGene ORF clones in mouse, rat for GPR126
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GPR126 (NM_198569)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPR126
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPR126

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GPR126
    ESI BIO PureStem Progenitor for GPR126: 
    PureStem 4D20.8, NCr-fac Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPR126


    (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
    GP126_HUMAN, Q86SQ4: Cell membrane; Multi-pass membrane protein. Note=Detected on the cell surface of activated
    but not resting umbilical vein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    GPR126 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including GPR126: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GPR126

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway TAS15203201
    GO:0007218neuropeptide signaling pathway IEA--

    GPR126 for ontologies           About GeneDecksing



    (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 GPR126 (GP126)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GPR126 gene (4 alternative transcripts): 
    NM_001032394.2  NM_001032395.2  NM_020455.5  NM_198569.2  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230173(uc010khc.3 uc010khd.3 uc010khe.3 uc010khf.3 uc011edv.2)
    ENST00000367608 ENST00000296932 ENST00000367609 ENST00000415128(uc003qix.2)
    ENST00000541199 ENST00000435011 ENST00000545477 ENST00000508295 ENST00000540208
    ENST00000463637 ENST00000538281 ENST00000472054 ENST00000497898

    miRNA
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    Block miRNA regulation of human, mouse, rat GPR126 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GPR126 (see all 10):
    hsa-miR-27a hsa-miR-128 hsa-miR-4263 hsa-miR-3681* hsa-miR-587 hsa-miR-513b hsa-miR-550b hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidGPR126 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GPR126
    Clone
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    OriGene clones in human, mouse for GPR126 (see all 21)
    OriGene ORF clones in mouse, rat for GPR126
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GPR126 (NM_198569)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPR126
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPR126
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GPR126
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GPR126
      QuantiTect SYBR Green Assays in human, mouse, rat GPR126
      QuantiFast Probe-based Assays in human, mouse, rat GPR126

    Selected AceView cDNA sequences (see all 145):

    AA452266 AI910455 NM_198569 BU634357 AA452435 BM068844 BG572183 BX648315 
    BM977742 BC075798 BM555555 AB183546 AK027843 AX747581 AB183548 AA478485 
    CK429494 BU619447 AB183547 AW029172 BX640873 BX097432 Z43920 BM757219 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GPR126 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:              -                                                                                                                                             
    SP2:              -                                                                                                                                             
    SP3:              -                                         -                                                                                                   
    SP4:              -                                         -                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:                              
    SP2:              -               
    SP3:                              
    SP4:              -               
    SP5:                              


    ECgene alternative splicing isoforms for GPR126

    (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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    GPR126 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GPR126 Expression
    About this image


    GPR126 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiac Fibroblasts Myocardium
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 3 entries
             Primordial Germ Cells Allantois
             Placenta-derived mesenchymal stem cells (family)
     
     Gonad
             Primordial Germ Cells Allantois
             Primordial germ cell-like cells
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             DKK1-induced cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
    GPR126 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GPR126 Protein Expression

    UniProtKB/Swiss-Prot: GP126_HUMAN, Q86SQ4
    Tissue specificity: Expressed in placenta and to a lower extent in pancreas and liver. Detected in aortic
    endothelial cells but not in skin microvascular endothelial cells

        Pathway & Disease-focused RT2 Profiler PCR Array including GPR126: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GPR126
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    QuantiFast Probe-based Assays in human, mouse, rat GPR126
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPR126

    (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 GPR126 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpr1261 , 5 G protein-coupled receptor 1261, 5 83.3(n)1
    84.19(a)1
      10 (5.43 cM)5
    2157981  NM_001002268.31  NP_001002268.11 
     144025855 
    chicken
    (Gallus gallus)
    Aves GPR1261 G protein-coupled receptor 126 69.54(n)
    66.61(a)
      421673  NM_001031071.1  NP_001026242.1 
    lizard
    (Anolis carolinensis)
    Reptilia GPR1266
    G protein-coupled receptor 126
    63(a)
    1 ↔ 1
    1(203242111-203311982)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.11402 Transcribed sequence with weak similarity to protein more 75.41(n)    57036581 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cirl6
    Cirl
    11(a)
    1 → many
    2R(4502227-4512708)
    worm
    (Caenorhabditis elegans)
    Secernentea lat-26
    Protein LAT-2, isoform a
    13(a)
    1 → many
    II(4359082-4368281) WBGene00002252


    ENSEMBL Gene Tree for GPR126 (if available)
    TreeFam Gene Tree for GPR126 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GPR126 gene
    GPR972  CD972  ELTD12  LPHN22  LPHN12  GPR1142  EMR12  LPHN32  
    EMR22  GPR1332  GPR1122  GPR1442  EMR32  GPR562  GPR642  
    17 SIMAP similar genes for GPR126 using alignment to 5 protein entries:     GP126_HUMAN (see all proteins):
    GPR64    BAI3    GPR114    CUBN    C1S    KPG_006
    MASP1    GPR97    C1R    FLJ00015    DKFZp781F1053    NRP1
    NRP2    FLJ00046    CSMD1    DKFZp686L21135    ELTD1

    GPR126 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), 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    GP126_HUMAN, Q86SQ4: Genetic variations in GPR126 influences stature as a quantitative trait (STQTL) [MIM:606255]. Adult
    height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model
    trait for studying genetic influence on quantitative traits


    Selected SNPs for GPR126 (see all 2636)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1822868811,2
    --140205396(+) TATTTA/CTGTTA 4 -- int10--------
    rs1916814661,2
    --140205647(+) TATATA/TTATTT 4 -- int10--------
    rs1995601941,2
    C--140219879(-) CTTCAA/CAAAAA 4 -- int10--------
    rs725561901,2
    C--140316808(+) TTACA-/CAGCTG 4 -- int10--------
    rs735763151,2
    C--142619669(+) CTCCAC/TAATAC 4 -- us2k12Minor allele frequency- T:0.21WA 120
    rs1923421211,2
    --142619751(+) AATAAG/TGAAGT 4 -- us2k10--------
    rs14182041,2
    C,H--142619844(-) tggagG/Cttgca 4 -- us2k18Minor allele frequency- C:0.00NA CSA 13
    rs69266851,2
    C,F,A--142619886(+) gaaaaG/Agtagc 4 -- us2k15Minor allele frequency- A:0.11NA WA 262
    rs69063681,2
    C,F--142619904(+) acaggT/Agtgta 4 -- us2k12Minor allele frequency- A:0.21WA 120
    rs580965391,2
    C--142619938(+) TTTTT-/T/TC  
            
    CAGTA
    4 -- us2k10--------

    HapMap Linkage Disequilibrium report for GPR126 (142622991 - 142767403 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GPR126:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660246CNV Deletion23128226
    esv1032223CNV Insertion17803354
    esv1241631CNV Insertion17803354
    nsv830825CNV Gain17160897
    esv275340CNV Gain+Loss21479260

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GPR126
    DNA2.0 Custom Variant and Variant Library Synthesis for GPR126

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612243    OMIM disorders: --

    7 diseases for GPR126:    
    About MalaCards
    food allergy    endotheliitis    narcolepsy    pulmonary function
    hepatitis b    hepatitis    hiv-1


    GPR126 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): GPR126
    Human Genome Epidemiology (HuGE) Navigator: GPR126 (11 documents)

    Export disorders for GPR126 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 GPR126 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with GPR126)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of ten loci associated with height highlights new biological pathways in human growth. (PubMed id 18391950)1, 2, 4 Lettre G.... Hirschhorn J.N. (Nat. Genet. 2008)
    2. There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini. (PubMed id 12565841)1, 2, 3 Fredriksson R....Schioeth H.B. (Biochem. Biophys. Res. Commun. 2003)
    3. VIGR -- a novel inducible adhesion family G-protein coupled receptor in endothelial cells. (PubMed id 15225624)1, 2, 9 Stehlik C.... Lipp J. (FEBS Lett. 2004)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    6. 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)
    7. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PubMed id 20010835)1, 4 Hancock D.B....London S.J. (Nat. Genet. 2010)
    8. Genome-wide association study of height and body mass index in Australian twin families. (PubMed id 20397748)1, 4 Liu J.Z....McRae A.F. (Twin Res Hum Genet 2010)
    9. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (PLoS Genet. 2009)
    10. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. (PubMed id 19343178)1, 4 Soranzo N....Deloukas P. (PLoS Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 57211 HGNC: 13841 AceView: GPR126 Ensembl:ENSG00000112414 euGenes: HUgn57211
    ECgene: GPR126 H-InvDB: GPR126

    (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 GPR126 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 GPR126 gene:
    Search GeneIP for patents involving GPR126

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



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