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

GPR56 Gene

protein-coding   GIFtS: 66
GCID: GC16P057653

G Protein-Coupled Receptor 56

  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
G Protein-Coupled Receptor 561 2     7-Transmembrane Protein With No EGF-Like N-Terminal Domains-12
TM7XN12 3 5     G-Protein Coupled Receptor 562
TM7LN42 3     Protein TM7XN13
BFPP2 5     

External Ids:    HGNC: 45121   Entrez Gene: 92892   Ensembl: ENSG000002053367   OMIM: 6041105   UniProtKB: Q9Y6533   

Export aliases for GPR56 gene to outside databases

Previous GC identifers: GC16P048070 GC16P057736 GC16P057388 GC16P057450 GC16P057429 GC16P056211 GC16P043521


(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 GPR56 Gene:
This gene encodes a member of the G protein-coupled receptor family. The protein contains 7 transmembrane domains
and a mucin-like domain in the N-terminal region. The gene is implicated in the regulation of brain cortical
patterning. The protein binds specifically to transglutaminase 2 in the extracellular space. Expression of this
gene is downregulated in melanoma cell lines, and overexpression of this gene can suppress tumor growth and
metastasis. Mutations in this gene result in bilateral frontoparietal polymicrogyria. Multiple transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for GPR56 Gene: 
GPR56 (G protein-coupled receptor 56) is a protein-coding gene. Diseases associated with GPR56 include polymicrogyria, and bilateral frontoparietal polymicrogyria. GO annotations related to this gene include G-protein coupled receptor activity. An important paralog of this gene is GPR97.

UniProtKB/Swiss-Prot: GPR56_HUMAN, Q9Y653
Function: Involved in cell adhesion and probably in cell-cell interactions. Regulates the migration of neural
precursor cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical
development, specifically in maintenance of the pial basemant membrane integrity and in cortical lamination.
Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and
possibly GNA12. Isoforms show differences in receptor signaling, specifically in serum response element (SRE)
transcriptional activation upon overexpression. Overexpression inhibits melanoma tumor growth and metastasis and,
during melanoma progression, regulates VEGFA production and angiogenesis through PRKCA; unprocessed GPR56 is
inhibiting and GPR56 NT is activating angiogenesis

Gene Wiki entry for GPR56 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_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GPR56 gene promoter:
         c-Fos   Bach1   AP-1   Pax-2a   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GPR56 promoter sequence
   Search SABiosciences Chromatin IP Primers for GPR56

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPR56


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

Entrez Gene cytogenetic band: 16q13   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13

GPR56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPR56 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P057653:  view genomic region     (about GC identifiers)

Start:
57,644,564 bp from pter      End:
57,698,944 bp from pter
Size:
54,381 bases      Orientation:
plus strand

(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: GPR56_HUMAN, Q9Y653 (See protein sequence)
Recommended Name: G-protein coupled receptor 56 precursor  
Size: 693 amino acids; 77738 Da
Subunit: Predominantly non-covalently linked heterodimer of the N-terminal and the C-terminal fragment. GPR56 NT
self-associates in a trans-trans manner; the homophilic interaction enhances receptor signaling. GPR56 CT
interacts with ARRB2; the interaction is impaired by GPR56 NT. Interacts with TGM2; TGM2 probably is not a GPR56
ligand and the interaction is reported conflictingly (PubMed:16757564, PubMed:21349848). Part of a
GPCR-tetraspanin complex at least consisting of GPR56, CD81, eventually CD9, and GNA11 in which CD81 is enhancing
the association of GPR56 with GNA11
Subcellular location: Cell membrane; Multi-pass membrane protein
Subcellular location: GPR56 N-terminal fragment: Secreted
Secondary accessions: A6NIT7 A6NJV9 B0M0K4 B4DR54 O95966 Q6ZMP1 Q8NGB3 Q96HB4
Alternative splicing: 5 isoforms:  Q9Y653-1   Q9Y653-2   Q9Y653-3   Q9Y653-4   Q9Y653-5   (Has no predictable signal peptide)

Explore the universe of human proteins at neXtProt for GPR56: NX_Q9Y653

Explore proteomics data for GPR56 at MOPED 

Post-translational modifications:

  • UniProtKB: Autoproteolytically cleaved into 2 fragments; the large extracellular N-terminal fragment and the membrane-bound
    C-terminal fragment predominantly remain associated and non-covalently linked. Shedding to yield the secreted
    GPR56 N-terminal fragment seems to involve metalloprotease(s)
  • UniProtKB: N-glycosylated. Contains sialic acid residues
  • UniProtKB: Ubiquitinated. Undergoes polyubiquitination upon activation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y653

  • GPR56 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPR56 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001139242.1  NP_001139243.1  NP_001139244.1  NP_001139245.1  NP_001139246.1  NP_005673.3  NP_958932.1  NP_958933.1  

    ENSEMBL proteins: 
     ENSP00000456781   ENSP00000454321   ENSP00000456166   ENSP00000455812   ENSP00000456469  
     ENSP00000455245   ENSP00000457456   ENSP00000455215   ENSP00000456796   ENSP00000456238  
     ENSP00000456794   ENSP00000457979   ENSP00000454263   ENSP00000454607   ENSP00000458063  
     ENSP00000457307   ENSP00000454364   ENSP00000455600   ENSP00000456494   ENSP00000456002  
     ENSP00000455351   ENSP00000457073   ENSP00000457122   ENSP00000456787   ENSP00000456632  
     ENSP00000373465   ENSP00000454574   ENSP00000456620   ENSP00000454855   ENSP00000454879  
     ENSP00000455209   ENSP00000458014   ENSP00000456603   ENSP00000457657   ENSP00000455074  
     ENSP00000455226   ENSP00000455553   ENSP00000457143   ENSP00000456819   ENSP00000455176  
     ENSP00000454490   ENSP00000455965   ENSP00000454933   ENSP00000454779   ENSP00000457612  
     ENSP00000457063   ENSP00000457994   ENSP00000456256   ENSP00000444911   ENSP00000456682  
     ENSP00000457223   ENSP00000458087   ENSP00000456147   ENSP00000454233   ENSP00000456362  
     ENSP00000456263   ENSP00000454289   ENSP00000456544   ENSP00000457953   ENSP00000457806  
     ENSP00000456599   ENSP00000457635   ENSP00000457178   ENSP00000456731   ENSP00000373464  
     ENSP00000444415   ENSP00000398034   ENSP00000369016   ENSP00000369018   ENSP00000438006  

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    Cloud-Clone Corp. Proteins for GPR56 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane ----
    GO:0005887integral to plasma membrane TAS10049584
    GO:0016020membrane ----
    GO:0016021integral to membrane TAS15004227

    GPR56 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GPCRBO: GPCR / Class B : Orphans

    IUPHAR Guide to PHARMACOLOGY protein family classification: GPR56 
    Adhesion Class GPCRs

    4 InterPro protein domains:
     IPR003910 GPCR_2_orphan_rcpt_GPR56
     IPR000832 GPCR_2_secretin-like
     IPR017981 GPCR_2-like
     IPR000203 GPS_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y653

    ProtoNet protein and cluster: Q9Y653

    3 Blocks protein domains:
    IPB000203 GPS domain
    IPB000832 G-protein coupled receptors family 2 (secretin-like)
    IPB003910 GPR56 orphan receptor signature


    UniProtKB/Swiss-Prot: GPR56_HUMAN, Q9Y653
    Similarity: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily
    Similarity: Contains 1 GPS domain


    GPR56 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: GPR56_HUMAN, Q9Y653
    Function: Involved in cell adhesion and probably in cell-cell interactions. Regulates the migration of neural
    precursor cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical
    development, specifically in maintenance of the pial basemant membrane integrity and in cortical lamination.
    Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and
    possibly GNA12. Isoforms show differences in receptor signaling, specifically in serum response element (SRE)
    transcriptional activation upon overexpression. Overexpression inhibits melanoma tumor growth and metastasis and,
    during melanoma progression, regulates VEGFA production and angiogenesis through PRKCA; unprocessed GPR56 is
    inhibiting and GPR56 NT is activating angiogenesis
    Enzyme regulation: GPR56 NT is proposed to inhibit receptor signaling; its interactions with extracellular ligands
    and /or homophilic GPR56 NT interactions may relieve the inhibition

         Genatlas biochemistry entry for GPR56:
    secretin-like G protein coupled receptor 56,widely expressed,with highest levels,in thyroid,brain and heart

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity ISS--
    GO:0005518collagen binding ISS--
    GO:0050840extracellular matrix binding ISS--
         
    GPR56 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GPR56:
     Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gpr56):
     behavior/neurological  cellular  integument  nervous system 

    GPR56 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GPR56 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GPR56 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GPR56 

    miRNA
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    miRTarBase miRNAs that target GPR56:
    hsa-let-7b (MIRT001629)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GPR56
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate GPR56 (see all 9):
    hsa-miR-4264 hsa-miR-1226 hsa-miR-1283 hsa-miR-139-5p hsa-miR-582-5p hsa-miR-889 hsa-miR-3662 hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidGPR56 3' UTR sequence
    Inhib. RNA
    Products:
        
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    GenScript: all cDNA clones in your preferred vector (see all 8): GPR56 (NM_001145770)
    Sino Biological Human cDNA Clone for GPR56
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPR56


    (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

    SuperPaths for GPR56 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1GPCRs, Other
    GPCRs, Other


    1 BioSystems Pathway for GPR56
        GPCRs, Other



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GPR56

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for GPR56 (Q9Y6533 ENSP000003690184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB2P321213, ENSP000002692604I2D: score=1 STRING: ENSP00000269260
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IDA--
    GO:0007155cell adhesion IEA--
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway TAS10049584
    GO:0007218neuropeptide signaling pathway IEA--

    GPR56 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 GPR56

    Search CenterWatch for drugs/clinical trials and news about GPR56

    (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 GPR56 gene (8 alternative transcripts): 
    NM_001145770.1  NM_001145771.1  NM_001145772.1  NM_001145773.1  NM_001145774.1  NM_005682.5  NM_201524.2  NM_201525.2  

    Unigene Cluster for GPR56:

    G protein-coupled receptor 56
    Hs.513633  [show with all ESTs]
    Unigene Representative Sequence: NM_001145774
    18/82 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 82):
    ENST00000565587 ENST00000568791 ENST00000570044 ENST00000567553 ENST00000565314
    ENST00000564912 ENST00000562673 ENST00000564907(uc002ema.1) ENST00000568908(uc002emc.2 uc002emb.2)
    ENST00000568909 ENST00000566778 ENST00000562101 ENST00000561872 ENST00000561988
    ENST00000567835(uc002elz.1) ENST00000569372 ENST00000563548 ENST00000562003

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidGPR56 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF106858.1 AJ011001.1 AK074399.1 AK075270.1 AK075555.1 AK131550.1 AK297236.1 AK299110.1 
    AK311156.1 AK312405.1 AL137591.1 AY358400.1 BC008770.2 BC013207.1 BT007311.1 CR936747.1 
    EU432119.1 

    24/58 DOTS entries (see all 58):

    DT.100828461  DT.102829807  DT.40261948  DT.120700158  DT.100703669  DT.40106998  DT.100839383  DT.120700101 
    DT.120700109  DT.95224953  DT.97856419  DT.100828453  DT.101984946  DT.91866185  DT.117472  DT.40130744 
    DT.120700143  DT.120700167  DT.100828467  DT.120700090  DT.120700146  DT.120700166  DT.95224951  DT.91987190 

    501 AceView cDNA sequences (see top 24):

    BQ684018 AI423395 BQ678891 NM_201524 BT007311 CB144330 BX381703 AI688989 
    BQ002006 BQ940423 AL137591 BQ422555 AA478599 AI193397 BX485768 AW469425 
    AA587392 BQ676571 CB149885 BG170127 BU171654 BP360823 AI077699 F09191 
    AI244106 BM727780 BE909397 AL045034 BE163622 AI559195 BM761654 BU146275 
    AI285282 NM_201525 BE407124 BU196980 BG818779 BX386431 NM_005682 BU196452 
    AA960860 BQ432053 BG059882 BQ232308 BM681423 AI339068 BI850146 BP355319 
    BE244425 AW024245 BF345756 BQ681051 AA947445 CA390929 BI917073 AI282295 
    BU955900 BQ221637 BF476169 BQ683897 BX506361 BU839134 BE166858 BG386947 
    AY358400 AI610263 AI421979 BU145215 AA478989 BI825392 AK131550 AI631817 
    BE223097 BE729706 BE302776 BM042136 AI420251 BE744657 CA941459 BG820174 
    BM752844 BX440894 BI827276 BI759553 BX474779 C17798 BC008770 BE616554 
    AF106858 BG818897 AW003452 AI287902 BM557182 AI905202 BX479505 BM551558 
    BQ675934 CF995140 AW468520 BG740342 T16635 BI517279 BE613018 CD671473 
    BM452235 BE614800 BI257601 AW192504 AI920824 BI916230 AA299479 BG770361 
    BF344560 BU174178 BQ445957 BE220901 BU602382 BU196784 BE166945 AI937128 
    BQ432179 CA448480 CA775554 CB154797 AL707342 BI755825 BG166221 BF343171 
    BE740778 BE243851 AA723388 AL554007 BE166860 T19229 BU075810 BF593277 
    BF348237 BE166894 AI566329 BP369584 BQ680391 AI197924 BU947714 BI091842 
    BE314987 AL554008 AI591133 BG818657 AI365649 BF916614 AA962591 BM562072 
    AA580461 AW090032 BE893422 AL121415 AL598371 BQ680813 BX352435 BQ883069 
    CA448463 BQ683583 BF037436 BX411471 BE893273 H28565 BE311716 BU942792 
    BI666902 R19084 BE868687 BF340462 BE744144 AI262344 AI435008 BM450054 
    AW337191 BC013207 AI635678 BG819058 AA865671 BP352407 AI832816 BX504626 
    BU145469 BF724579 BX475102 BE274961 BE166903 AK074399 BQ879177 BP350039 
    D61293 BF112069 AA574194 BU196483 BU176946 BF034353 BX339034 AK075555 
    BQ549917 BQ676839 BF525714 BI766999 AI474080 AA775249 AJ011001 N63869 
    BQ678130 BE311667 BX646686 BG014752 AL133937 BQ424252 BX105968 CB242158 
    AL046540 CA488057 BX337534 BQ878896 AA363735 AA918351 BI907794 BM452153 
    BQ680533 BE613176 CD620991 BU156180 AW148649 BE384002 BQ677657 BF530846 
    BP358773 BM790161 BG425555 BG819937 BE541401 AI239934 BX417949 BU183659 
    BI755503 BX475238 BG760961 BE409054 AI870350 BU189206 AA322273 BU953436 
    BG761559 AA703175 BM042456 BF434754 CA503044 CD246163 BQ368652 AI304741 
    BG913976 BQ682600 Z45873 BM745177 BQ681712 BG770331 BE166888 BM982709 
    BE744270 BM840836 AW118490 BG323258 BX351985 BQ680974 AW629482 BE245815 
    BU171272 AA304103 BQ232563 AI096616 BQ581461 BI861295 BQ877867 BI559738 
    CA391451 BG767245 F11529 BG823347 AI272181 BM995485 BM042975 AK075270 
    H53629 AI276296 BI601981 AA327544 BQ679006 AI913164 BE247418 BQ669244 
    AL598478 BQ581717 BU786770 BQ876310 BM473666 BE615412 AW316864 BE166898 
    BX337533 AW151452 BE391006 BE871164 BX475118 BU784163 BM857743 BM042330 
    BU163060 AI695253 AI863591 AA916277 AA769928 CF995022 BQ683067 AW750190 
    BG914136 BU171324 N92014 R87720 BI767127 BE070720 BG327721 BM315048 
    AA327530 BQ231636 AA834943 BU190826 AW470167 BM042375 CB987979 BX381702 
    BG032841 BG169777 BQ682598 AA363734 BE166852 BE166953 AA701343 BG910750 
    BU781632 BI553947 BE070640 BU168901 AA505810 BG750668 BM821990 BE799344 
    AA384624 BU185673 BF346638 D78950 CB113628 BU188870 BM715270 BM703529 
    R56668 BE244892 BE074057 AA868966 AW610088 Z41505 BU162962 BQ231459 
    AI934081 AI871452 BM831855 BE612582 H04135 CD557728 BF027697 N22807 
    AI803908 AA947641 T16357 BU947985 BM805296 BI464202 BF033836 BE616296 
    AA015703 BE867674 BM924251 BF509833 CB989279 AL039420 BF061225 BE070638 
    BQ679619 BE280709 BI914343 D81371 H11336 BG819621 BE871505 BF351390 
    BF525337 AW837046 BE246307 BG386286 CD620992 BF130243 BX384045 CD108337 
    BF810857 AW579835 BG248448 BG003766 BI550216 BE740963 BM042252 BF932024 
    BX475095 BI517915 BI002947 BE076706 BE868668 BF887246 BF343588 BG819556 
    H28566 BE070699 BG168757 BM042852 R97195 AW372869 BE541975 AI880203 
    AW275794 BE302749 BQ650238 AW953774 AI001889 H53668 BF527318 BG387360 
    BE708954 AA477926 BG470353 BQ679572 BF841366 BG007910 BU684869 BF529640 
    BE843846 BM042929 BM042862 BF347802 AV739091 AL535171 H03426 AA013482 
    BG820455 AL039419 AW363835 AV739089 R53825 AI601236 BG002988 BQ678973 
    BF061258 AL565807 BG421823 BE745708 AA534355 AW372873 BG959208 CD359444 
    H19664 AI559387 BI003230 BM042868 BF527839 BF889345 R97196 AW128986 
    BE070648 AW844829 BG166857 BG171439 AV739869 CA335644 BQ683778 BI058447 
    BG470413 BF092205 BE168225 BG910316 BE246397 H13067 R21620 BG914227 
    BG751579 R56831 BF347954 BM905169 BE895475 

    GeneLoc Exon Structure


    (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

    GPR56 expression in normal human tissues (normalized intensities)      GPR56 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATTGTAG
    GPR56 Expression
    About this image


    GPR56 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Olfactory Bulb   
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             sensory organ/nose/nasal cavity   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Trachea
             visceral organ/lung/left lung   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut

    See GPR56 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPR56

    SOURCE GeneReport for Unigene cluster: Hs.513633

    UniProtKB/Swiss-Prot: GPR56_HUMAN, Q9Y653
    Tissue specificity: Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a
    great number of tumor cells. Expression is down-regulated in different tumors from highly metastatic cells

        SABiosciences Expression via Pathway-Focused PCR Array including GPR56: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    (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 chordates.

    Orthologs for GPR56 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpr561 , 5 G protein-coupled receptor 561, 5 81.27(n)1
    79.33(a)1
      8 (47.12 cM)5
    147661  NM_001198894.11  NP_001185823.11 
     949771095 
    chicken
    (Gallus gallus)
    Aves GPR561 G protein-coupled receptor 56 59.95(n)
    48.06(a)
      415633  XM_413999.3  XP_413999.3 
    lizard
    (Anolis carolinensis)
    Reptilia GPR566
    G protein-coupled receptor 56
    44(a)
    1 ↔ 1
    GL343677.1(121503-137573)
    zebrafish
    (Danio rerio)
    Actinopterygii gpr566
    G protein-coupled receptor 56
    20(a)
    1 → many
    7(30006746-30032840)


    ENSEMBL Gene Tree for GPR56 (if available)
    TreeFam Gene Tree for GPR56 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPR56 gene
    GPR972  CD972  ELTD12  LPHN22  LPHN12  GPR1142  EMR12  LPHN32  
    EMR22  GPR1332  GPR1122  GPR1442  EMR32  GPR1262  GPR642  
    3 SIMAP similar genes for GPR56 using alignment to 49 protein entries:     GPR56_HUMAN (see all proteins):
    GPR97    GPR114    KPG_006

    GPR56 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

    10/1283 SNPs in GPR56 are shown (see all 1283)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0262464
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0262462 R W mis40--------
    VAR_0695844
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0695842 L R mis40--------
    VAR_0695834
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0695832 E K mis40--------
    VAR_0262444
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0262442 C S mis40--------
    VAR_0262434
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0262432 Y C mis40--------
    VAR_0262454
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0262452 C S mis40--------
    VAR_0695814
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0695812 R Q mis40--------
    VAR_0262424
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0262422 R W mis40--------
    VAR_0695824
    Polymicrogyria, bilateral frontoparietal (BFPP)4--see VAR_0695822 W S mis40--------
    rs1219084621,2
    Cpathogenic158698765(+) GCCAGC/TGGAAC 16 R W mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for GPR56 (57644564 - 57698944 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GPR56:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714531CNV Deletion23290073
    esv2714530CNV Deletion23290073
    esv2714532CNV Deletion23290073
    nsv833246CNV Loss17160897
    nsv906725CNV Loss21882294
    esv259737OTHER Complex20981092


    Human Gene Mutation Database (HGMD): GPR56
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for GPR56

    (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: 604110   
    OMIM disorders: 606854  
    UniProtKB/Swiss-Prot: GPR56_HUMAN, Q9Y653
  • Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]: A malformation of the cortex in which the
    brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most
    severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay,
    cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous
    disorder, considered to be the result of postmigratory abnormal cortical organization. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 20 diseases for GPR56:    About MalaCards
    polymicrogyria    bilateral frontoparietal polymicrogyria    pseudobulbar palsy    esotropia
    neuronal migration disorders    brain malformations    periventricular nodular heterotopia    focal epilepsy
    melanoma    lissencephaly    microcephaly    intellectual disability
    hyperparathyroidism    esophageal squamous cell carcinoma    esophagitis    squamous cell carcinoma
    pancreatic cancer    pancreatitis    neuronitis    thyroiditis

    3 diseases from the University of Copenhagen DISEASES database for GPR56:
    Periventricular nodular heterotopia     Lissencephaly     Focal epilepsy

    GPR56 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for GPR56 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 9 15674329 (3), 17575113 (1)
    cancer 0 7 17575113 (4), 18378689 (1)

    GeneTests: GPR56
    GeneReviews: GPR56
    Genetic Association Database (GAD): GPR56
    Human Genome Epidemiology (HuGE) Navigator: GPR56 (1 document)

    Export disorders for GPR56 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 GPR56 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with GPR56)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TM7XN1, a novel human EGF-TM7 like protein, detected with mRNA differential display using human melanoma cell lines with different metastatic potential. (PubMed id 10100861)1, 2, 3 Zendman A.J.W....van Muijen G.N.P. (1999)
    2. GPR56, a novel secretin-like human G-protein-coupled receptor gene. (PubMed id 10049584)1, 2, 3 Liu M.... Herzog H. (1999)
    3. Dynamic regulation of a GPCR-tetraspanin-G protein complex on intact cells: central role of CD81 in facilitating GPR56-Galpha q/11 association. (PubMed id 15004227)1, 2, 9 Little K.D....Stipp C.S. (2004)
    4. Disease-associated mutations prevent GPR56-collagen II I interaction. (PubMed id 22238662)1, 2 Luo R....Piao X. (2012)
    5. The N terminus of the adhesion G protein-coupled rece ptor GPR56 controls receptor signaling activity. (PubMed id 21708946)1, 2 Paavola K.J....Hall R.A. (2011)
    6. Disease-associated GPR56 mutations cause bilateral fr ontoparietal polymicrogyria via multiple mechanisms. (PubMed id 21349848)1, 2 Chiang N.Y....Lin H.H. (2011)
    7. GPR56 Regulates VEGF production and angiogenesis duri ng melanoma progression. (PubMed id 21724588)1, 2 Yang L....Xu L. (2011)
    8. A novel GPR56 mutation causes bilateral frontoparieta l polymicrogyria. (PubMed id 21723461)1, 2 Luo R....Piao X. (2011)
    9. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    10. Splicing variants of the orphan G-protein-coupled rec eptor GPR56 regulate the activity of transcription factors associated with tumo rigenesis. (PubMed id 19572147)1, 2 Kim J.E....Hwang J.I. (2010)

    (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: 9289 HGNC: 4512 AceView: GPR56 Ensembl:ENSG00000205336 euGenes: HUgn9289
    ECgene: GPR56 H-InvDB: GPR56

    (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 GPR56 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GPR56 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPR56

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GPR56 gene:
    Search GeneIP for patents involving GPR56

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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