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GRHL1 Gene

protein-coding   GIFtS: 53
GCID: GC02P010085

Grainyhead-Like 1 (Drosophila)

(Previous name: transcription factor CP2-like 2)
(Previous symbol: TFCP2L2)
  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
Grainyhead-Like 1 (Drosophila)1 2     Mammalian Grainyhead2 3
Transcription Factor CP2-Like 21 2 3     Transcription Factor LBP-322 3
TFCP2L21 2 3     NH322 3
LBP322 3 5     Grainyhead-Like Protein 1 Homolog2
MGR2 3 5     LBP Protein 322

External Ids:    HGNC: 179231   Entrez Gene: 298412   Ensembl: ENSG000001343177   OMIM: 6097865   UniProtKB: Q9NZI53   

Export aliases for GRHL1 gene to outside databases

Previous GC identifers: GC02P010043 GC02P009942


(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 GRHL1 Gene:
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a
homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This
protein functions as a transcription factor during development. (provided by RefSeq, Jun 2009)

GeneCards Summary for GRHL1 Gene:
GRHL1 (grainyhead-like 1 (Drosophila)) is a protein-coding gene. Diseases associated with GRHL1 include vasculogenic impotence, and dissecting aortic aneurysm. An important paralog of this gene is UBP1.

UniProtKB/Swiss-Prot: GRHL1_HUMAN, Q9NZI5
Function: Transcription factor. Isoform 1 may function as an activator and isoform 2 as a repressor in tissues
where both forms are expressed. May play a role in development. May be involved in epidermal differentiation (By
similarity). Binds and transactivates the EN1 promoter




(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:
NC_000002.12  NT_005334.17  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRHL1 gene promoter:
         HFH-3   FOXI1   AREB6   Elk-1   CUTL1   POU3F2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRHL1 promoter sequence
   Search Chromatin IP Primers for GRHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRHL1


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

Entrez Gene cytogenetic band: 2p25.1   Ensembl cytogenetic band:  2p25.1   HGNC cytogenetic band: 2p25.2

GRHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRHL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P010085:  view genomic region     (about GC identifiers)

Start:
10,085,341 bp from pter      End:
10,142,412 bp from pter
Size:
57,072 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: GRHL1_HUMAN, Q9NZI5 (See protein sequence)
Recommended Name: Grainyhead-like protein 1 homolog  
Size: 618 amino acids; 70113 Da
Subunit: Homodimer, also forms heterodimers with GRHL2 or GRHL3
Developmental stage: Expressed in fetal liver and brain
Secondary accessions: A6NLA4 B2R7E4 B5MEC2 Q53T93 Q6NWN7 Q6NWN8 Q6NWN9 Q8NI33
Alternative splicing: 3 isoforms:  Q9NZI5-1   Q9NZI5-2   Q9NZI5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GRHL1: NX_Q9NZI5

Explore proteomics data for GRHL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GRHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_937825.2  
    ENSEMBL proteins: 
     ENSP00000387521   ENSP00000420654   ENSP00000324693   ENSP00000418275   ENSP00000419831  
     ENSP00000384209   ENSP00000324494  
    Reactome Protein details: Q9NZI5

    GRHL1 Human Recombinant Protein Products:

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    Novus Biologicals GRHL1 Protein
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    Cloud-Clone Corp. Proteins for GRHL1

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    Cloud-Clone Corp. CLIAs for GRHL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007604 CP2

    Graphical View of Domain Structure for InterPro Entry Q9NZI5

    ProtoNet protein and cluster: Q9NZI5

    UniProtKB/Swiss-Prot: GRHL1_HUMAN, Q9NZI5
    Similarity: Belongs to the grh/CP2 family. Grainyhead subfamily


    GRHL1 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: GRHL1_HUMAN, Q9NZI5
    Function: Transcription factor. Isoform 1 may function as an activator and isoform 2 as a repressor in tissues
    where both forms are expressed. May play a role in development. May be involved in epidermal differentiation (By
    similarity). Binds and transactivates the EN1 promoter

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
         
    GRHL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GRHL1:
     Decreased Wnt reporter activit  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Grhl1):
     cardiovascular system  growth/size/body  homeostasis/metabolism  integument 

    GRHL1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRHL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRHL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GRHL1

    miRNA
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    miRTarBase miRNAs that target GRHL1:
    hsa-mir-192-5p (MIRT026212)

    Block miRNA regulation of human, mouse, rat GRHL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GRHL1 (see all 41):
    hsa-miR-300 hsa-miR-25 hsa-miR-30d hsa-miR-192 hsa-miR-3167 hsa-miR-1273d hsa-miR-30a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidGRHL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GRHL1

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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRHL1


    (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
    GRHL1_HUMAN, Q9NZI5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4
    cytosol3
    extracellular2
    chloroplast1
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    GRHL1 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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    SuperPaths for GRHL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GRHL1
        PPARA activates gene expression



    GRHL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GRHL1
    Interactions:

        Search GeneGlobe Interaction Network for GRHL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for GRHL1 (Q9NZI53 ENSP000003244944) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRHL3Q8TE853, ENSP000002362554I2D: score=1 STRING: ENSP00000236255
    NCOA2ENSP000003999684STRING: ENSP00000399968
    PPARAENSP000002627354STRING: ENSP00000262735
    CARM1ENSP000003256904STRING: ENSP00000325690
    CHD9ENSP000003815224STRING: ENSP00000381522
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    GRHL1 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 GRHL1



    (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 GRHL1 gene: 
    NM_198182.2  

    Unigene Cluster for GRHL1:

    Grainyhead-like 1 (Drosophila)
    Hs.418493  [show with all ESTs]
    Unigene Representative Sequence: NM_198182
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439493 ENST00000497403 ENST00000464418 ENST00000324907(uc002raa.3 uc002rab.3 uc010yjb.2)
    ENST00000472167 ENST00000494520 ENST00000480736 ENST00000405379 ENST00000324883(uc002rad.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GRHL1 (see all 41):
    hsa-miR-300 hsa-miR-25 hsa-miR-30d hsa-miR-192 hsa-miR-3167 hsa-miR-1273d hsa-miR-30a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidGRHL1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GRHL1
    Predesigned siRNA for gene silencing in human, mouse, rat GRHL1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GRHL1 (NM_198182)
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    Primer
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    OriGene qPCR primer pairs and template standards for GRHL1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GRHL1
      QuantiTect SYBR Green Assays in human, mouse, rat GRHL1
      QuantiFast Probe-based Assays in human, mouse, rat GRHL1

    Additional mRNA sequence: 

    AF198489.1 AF411210.1 AK293855.1 AK296982.1 AK312950.1 BC067519.1 BC067520.1 BC067521.1 

    8 DOTS entries:

    DT.101974561  DT.100776488  DT.100744018  DT.101955451  DT.75134841  DT.455839  DT.207236  DT.91740318 

    Selected AceView cDNA sequences (see all 73):

    NM_014552 BX281611 AI923610 NM_198182 AF411210 BI092707 BI752455 BX470318 
    BF435313 CK130270 BX507474 AI686262 AW571989 BC063299 BM979856 AF198489 
    CD559574 BC067519 BF355293 BP432689 CB960104 BP352660 CB048030 H06333 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GRHL1 (see all 7)    About this scheme

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

    ExUns: 17c · 17d
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GRHL1

    (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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    GRHL1 expression in normal human tissues (normalized intensities)      GRHL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTCACAAA
    GRHL1 Expression
    About this image


    GRHL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
    GRHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRHL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.418493

    UniProtKB/Swiss-Prot: GRHL1_HUMAN, Q9NZI5
    Tissue specificity: Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is
    highly expressed in brain and liver. Highly expressed in placental JEG-3 cells and at very low levels in
    non-steroidogenic cells. No expression detected in adrenal NCI-H295A cells

        Custom PCR Arrays for GRHL1
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    QuantiFast Probe-based Assays in human, mouse, rat GRHL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRHL1

    (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 GRHL1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grhl11 , 5 grainyhead-like 1 (Drosophila)1, 5 88.08(n)1
    94.66(a)1
      12 (8.49 cM)5
    1957331  NM_001161406.11  NP_001154878.11 
     245722875 
    chicken
    (Gallus gallus)
    Aves GRHL11 grainyhead-like 1 (Drosophila) 80.29(n)
    91.23(a)
      428651  XM_004935752.1  XP_004935809.1 
    lizard
    (Anolis carolinensis)
    Reptilia GRHL16
    grainyhead-like 1 (Drosophila)
    84(a)
    1 ↔ 1
    1(148095348-148179992)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.254602 Xenopus laevis transcribed sequence with moderate similarity more 77.02(n)    BU909180.1 
    zebrafish
    (Danio rerio)
    Actinopterygii grhl11 grainyhead-like 1 (Drosophila) 69.57(n)
    72.99(a)
      324942  XM_001923728.2  XP_001923763.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta grh6
    grainy head
    14(a)
    1 → many
    2R(13690294-13729584)
    worm
    (Caenorhabditis elegans)
    Secernentea grh-16
    Protein GRH-1 (grh-1) mRNA, complete cds
    31(a)
    1 → many
    I(1259489-1268155) WBGene00001707


    ENSEMBL Gene Tree for GRHL1 (if available)
    TreeFam Gene Tree for GRHL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GRHL1 gene
    UBP12  GRHL32  TFCP22  GRHL22  TFCP2L12  
    3 SIMAP similar genes for GRHL1 using alignment to 5 protein entries:     GRHL1_HUMAN (see all proteins):
    GRHL2    GRHL3    DKFZp564C0164

    GRHL1 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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    Selected SNPs for GRHL1 (see all 1260)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs130093581,2
    C,F,A--10089855(+) GAGGGA/GCTGCT 1 -- us2k1 trp38Minor allele frequency- G:0.21NA WA CSA EA 368
    rs28841761,2
    C,F,A--10089982(+) TCTTCC/TTCCCA 1 -- us2k1 trp39Minor allele frequency- T:0.26NA WA CSA EA 370
    rs754977151,2
    C,F--10090020(+) CCAGCA/C/GTGGGT 1 -- us2k11WA 118
    rs1886380801,2
    --10090057(+) CATGGC/TTTTAA 1 -- us2k10--------
    rs788252491,2
    C,F--10090065(+) TAAATG/AGCCTC 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1810433161,2
    --10090184(+) CTTGAC/GCTTAG 1 -- us2k10--------
    rs67552891,2
    C,F,A,H--10090244(+) tcttcC/Tgtatc 1 -- us2k110Minor allele frequency- T:0.49NA WA CSA EA 372
    rs1509972591,2
    --10090273(+) TTCCTC/TCAGTT 1 -- us2k10--------
    rs1409059421,2
    --10090509(+) TACCCC/TGCTCC 1 -- us2k10--------
    rs18645391,2
    C,F,A,H--10090572(+) cggaaG/Accggc 1 -- us2k122Minor allele frequency- A:0.28NS EA NA WA CSA 2350

    HapMap Linkage Disequilibrium report for GRHL1 (10085341 - 10142412 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GRHL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv213438CNV Insertion16902084
    esv1497328CNV Insertion17803354
    nsv828297CNV Loss20364138

    Site Specific Mutation Identification with PCR Assays
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    (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: 609786    OMIM disorders: --

    7 diseases for GRHL1:    About MalaCards
    vasculogenic impotence    dissecting aortic aneurysm    impotence    tonsillitis
    aortic aneurysm    prostate cancer    prostatitis


    GRHL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GRHL1

    Export disorders for GRHL1 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 GRHL1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with GRHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc. (PubMed id 10644752)1, 2, 3 Huang N. and Miller W.L. (J. Biol. Chem. 2000)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. 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)
    4. The identification and characterization of human sister-of-mammalian grainyhead (SOM) expands the grainyhead-like family of developmental transcription factors. (PubMed id 12549979)1, 2 Ting S.B....Jane S.M. (Biochem. J. 2003)
    5. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. (PubMed id 12393799)1, 3 Peters L.M.... Morell R.J. (Hum. Mol. Genet. 2002)
    6. A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead. (PubMed id 12175488)1, 2 Wilanowski T.... Jane S.M. (Mech. Dev. 2002)
    7. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
    8. LBP-1b, LBP-9, and LBP-32/MGR detected in syncytiotrophoblasts from first-trimester human placental tissue and their transcriptional regulation. (PubMed id 18004979)1 Henderson Y.C....Clayman G.L. (DNA Cell Biol. 2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (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: 29841 HGNC: 17923 AceView: TFCP2L2 Ensembl:ENSG00000134317 euGenes: HUgn29841
    ECgene: GRHL1 H-InvDB: GRHL1

    (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 GRHL1 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 GRHL1 gene:
    Search GeneIP for patents involving GRHL1

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



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