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GRHL2 (grainyhead like transcription factor 2)

Identity

Alias_namesDFNA28
TFCP2L3
deafness, autosomal dominant 28
transcription factor CP2-like 3
grainyhead-like 2 (Drosophila)
Alias_symbol (synonym)FLJ13782
BOM
Other aliasECTDS
HGNC (Hugo) GRHL2
LocusID (NCBI) 79977
Atlas_Id 50630
Location 8q22.3  [Link to chromosome band 8q22]
Location_base_pair Starts at 101492439 and ends at 101669724 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BRK1 (3p25.3) / GRHL2 (8q22.3)GRHL2 (8q22.3) / CDPF1 (22q13.31)GRHL2 (8q22.3) / FAM213A (10q23.1)
GRHL2 (8q22.3) / FAM49A (2p24.2)GRHL2 (8q22.3) / HNRNPD (4q21.22)GRHL2 (8q22.3) / KCNRG (13q14.2)
GRHL2 (8q22.3) / LOC100506207 (6p24.3)GRHL2 (8q22.3) / MAP2K2 (19p13.3)GRHL2 (8q22.3) / NFU1 (2p13.3)
GRHL2 (8q22.3) / PAGE3 (Xp11.21)GRHL2 (8q22.3) / SLC45A3 (1q32.1)GRHL2 (8q22.3) / TRAPPC9 (8q24.3)
GRHL2 (8q22.3) / TRIM13 (13q14.2)GRHL2 (8q22.3) / TSPAN14 (10q23.1)GRHL2 (8q22.3) / ZFHX4 (8q21.11)
RITA1 (12q24.13) / GRHL2 (8q22.3)TMPRSS2 (21q22.3) / GRHL2 (8q22.3)C12orf52 GRHL2 8q22.3
GRHL2 8q22.3 C10orf58GRHL2 8q22.3 C22orf40GRHL2 8q22.3 / FAM49A 2p24.2
GRHL2 8q22.3 / KCNRG 13q14.2GRHL2 8q22.3 / PAGE3 Xp11.21GRHL2 8q22.3 / TRAPPC9 8q24.3
GRHL2 8q22.3 / TRIM13 13q14.2GRHL2 8q22.3 / TSPAN14 10q23.1GRHL2 8q22.3 / ZFHX4 8q21.11
TMPRSS2 21q22.3 / GRHL2 8q22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GRHL2   2799
Cards
Entrez_Gene (NCBI)GRHL2  79977  grainyhead like transcription factor 2
AliasesBOM; DFNA28; ECTDS; TFCP2L3
GeneCards (Weizmann)GRHL2
Ensembl hg19 (Hinxton)ENSG00000083307 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000083307 [Gene_View]  chr8:101492439-101669724 [Contig_View]  GRHL2 [Vega]
ICGC DataPortalENSG00000083307
TCGA cBioPortalGRHL2
AceView (NCBI)GRHL2
Genatlas (Paris)GRHL2
WikiGenes79977
SOURCE (Princeton)GRHL2
Genetics Home Reference (NIH)GRHL2
Genomic and cartography
GoldenPath hg38 (UCSC)GRHL2  -     chr8:101492439-101669724 +  8q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GRHL2  -     8q22.3   [Description]    (hg19-Feb_2009)
EnsemblGRHL2 - 8q22.3 [CytoView hg19]  GRHL2 - 8q22.3 [CytoView hg38]
Mapping of homologs : NCBIGRHL2 [Mapview hg19]  GRHL2 [Mapview hg38]
OMIM608576   608641   616029   
Gene and transcription
Genbank (Entrez)AK002034 AK023844 AK292853 AK296817 AK310221
RefSeq transcript (Entrez)NM_001330593 NM_024915
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GRHL2
Cluster EST : UnigeneHs.690766 [ NCBI ]
CGAP (NCI)Hs.690766
Alternative Splicing GalleryENSG00000083307
Gene ExpressionGRHL2 [ NCBI-GEO ]   GRHL2 [ EBI - ARRAY_EXPRESS ]   GRHL2 [ SEEK ]   GRHL2 [ MEM ]
Gene Expression Viewer (FireBrowse)GRHL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79977
GTEX Portal (Tissue expression)GRHL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ISB3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ISB3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ISB3
Splice isoforms : SwissVarQ6ISB3
PhosPhoSitePlusQ6ISB3
Domains : Interpro (EBI)CP2   
Domain families : Pfam (Sanger)CP2 (PF04516)   
Domain families : Pfam (NCBI)pfam04516   
Conserved Domain (NCBI)GRHL2
DMDM Disease mutations79977
Blocks (Seattle)GRHL2
SuperfamilyQ6ISB3
Human Protein AtlasENSG00000083307
Peptide AtlasQ6ISB3
HPRD10545
IPIIPI00016576   IPI00736700   IPI00981678   
Protein Interaction databases
DIP (DOE-UCLA)Q6ISB3
IntAct (EBI)Q6ISB3
FunCoupENSG00000083307
BioGRIDGRHL2
STRING (EMBL)GRHL2
ZODIACGRHL2
Ontologies - Pathways
QuickGOQ6ISB3
Ontology : AmiGOintronic transcription regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  neural tube closure  cardiac ventricle morphogenesis  epithelial cell morphogenesis  epithelial cell morphogenesis  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cell-cell junction  transcription from RNA polymerase II promoter  cell adhesion  brain development  cell proliferation  epidermis development  membrane  chromatin DNA binding  cell junction assembly  multicellular organism growth  embryonic digit morphogenesis  camera-type eye development  sequence-specific DNA binding  regulation of DNA methylation  regulation of DNA methylation  negative regulation of keratinocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  embryonic cranial skeleton morphogenesis  positive regulation of telomerase activity  face development  lung lobe morphogenesis  lung epithelial cell differentiation  epithelial cell morphogenesis involved in placental branching  bicellular tight junction assembly  epithelium migration  
Ontology : EGO-EBIintronic transcription regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  neural tube closure  cardiac ventricle morphogenesis  epithelial cell morphogenesis  epithelial cell morphogenesis  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cell-cell junction  transcription from RNA polymerase II promoter  cell adhesion  brain development  cell proliferation  epidermis development  membrane  chromatin DNA binding  cell junction assembly  multicellular organism growth  embryonic digit morphogenesis  camera-type eye development  sequence-specific DNA binding  regulation of DNA methylation  regulation of DNA methylation  negative regulation of keratinocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  embryonic cranial skeleton morphogenesis  positive regulation of telomerase activity  face development  lung lobe morphogenesis  lung epithelial cell differentiation  epithelial cell morphogenesis involved in placental branching  bicellular tight junction assembly  epithelium migration  
NDEx NetworkGRHL2
Atlas of Cancer Signalling NetworkGRHL2
Wikipedia pathwaysGRHL2
Orthology - Evolution
OrthoDB79977
GeneTree (enSembl)ENSG00000083307
Phylogenetic Trees/Animal Genes : TreeFamGRHL2
HOVERGENQ6ISB3
HOGENOMQ6ISB3
Homologs : HomoloGeneGRHL2
Homology/Alignments : Family Browser (UCSC)GRHL2
Gene fusions - Rearrangements
Fusion : MitelmanGRHL2/CDPF1 [8q22.3/22q13.31]  
Fusion : MitelmanGRHL2/FAM213A [8q22.3/10q23.1]  [t(8;10)(q22;q23)]  
Fusion : MitelmanGRHL2/FAM49A [8q22.3/2p24.2]  [t(2;8)(p24;q22)]  
Fusion : MitelmanGRHL2/KCNRG [8q22.3/13q14.2]  [t(8;13)(q22;q14)]  
Fusion : MitelmanGRHL2/PAGE3 [8q22.3/Xp11.21]  [t(X;8)(p11;q22)]  
Fusion : MitelmanGRHL2/TRAPPC9 [8q22.3/8q24.3]  [t(8;8)(q22;q24)]  
Fusion : MitelmanGRHL2/TRIM13 [8q22.3/13q14.2]  [t(8;13)(q22;q14)]  
Fusion : MitelmanGRHL2/TSPAN14 [8q22.3/10q23.1]  [t(8;10)(q22;q23)]  
Fusion : MitelmanGRHL2/ZFHX4 [8q22.3/8q21.11]  [t(8;8)(q21;q22)]  
Fusion : MitelmanRITA1/GRHL2 [12q24.13/8q22.3]  [t(8;12)(q22;q24)]  
Fusion : MitelmanTMPRSS2/GRHL2 [21q22.3/8q22.3]  [t(8;21)(q22;q22)]  
Fusion: TCGAC12orf52 GRHL2 8q22.3 HNSC
Fusion: TCGAGRHL2 8q22.3 C10orf58 BRCA
Fusion: TCGAGRHL2 8q22.3 C22orf40 HNSC
Fusion: TCGAGRHL2 8q22.3 FAM49A 2p24.2 BLCA
Fusion: TCGAGRHL2 8q22.3 KCNRG 13q14.2 HNSC
Fusion: TCGAGRHL2 8q22.3 PAGE3 Xp11.21 BRCA
Fusion: TCGAGRHL2 8q22.3 TRAPPC9 8q24.3 BRCA
Fusion: TCGAGRHL2 8q22.3 TRIM13 13q14.2 HNSC
Fusion: TCGAGRHL2 8q22.3 TSPAN14 10q23.1 BRCA
Fusion: TCGAGRHL2 8q22.3 ZFHX4 8q21.11 BRCA
Fusion: TCGATMPRSS2 21q22.3 GRHL2 8q22.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGRHL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GRHL2
dbVarGRHL2
ClinVarGRHL2
1000_GenomesGRHL2 
Exome Variant ServerGRHL2
ExAC (Exome Aggregation Consortium)GRHL2 (select the gene name)
Genetic variants : HAPMAP79977
Genomic Variants (DGV)GRHL2 [DGVbeta]
DECIPHERGRHL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGRHL2 
Mutations
ICGC Data PortalGRHL2 
TCGA Data PortalGRHL2 
Broad Tumor PortalGRHL2
OASIS PortalGRHL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGRHL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGRHL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GRHL2
DgiDB (Drug Gene Interaction Database)GRHL2
DoCM (Curated mutations)GRHL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GRHL2 (select a term)
intoGenGRHL2
Cancer3DGRHL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608576    608641    616029   
Orphanet23157    12046   
MedgenGRHL2
Genetic Testing Registry GRHL2
NextProtQ6ISB3 [Medical]
TSGene79977
GENETestsGRHL2
Target ValidationGRHL2
Huge Navigator GRHL2 [HugePedia]
snp3D : Map Gene to Disease79977
BioCentury BCIQGRHL2
ClinGenGRHL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79977
Chemical/Pharm GKB GenePA27270
Clinical trialGRHL2
Miscellaneous
canSAR (ICR)GRHL2 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGRHL2
EVEXGRHL2
GoPubMedGRHL2
iHOPGRHL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:02:28 CEST 2017

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