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Aliases for GRHL3 Gene

Aliases for GRHL3 Gene

  • Grainyhead Like Transcription Factor 3 2 3
  • Transcription Factor CP2-Like 4 2 3 4
  • Sister Of Mammalian Grainyhead 3 4
  • TFCP2L4 3 4
  • SOM 3 4
  • Grainyhead-Like Transcription Factor 3 5
  • Grainyhead-Like 3 (Drosophila) 2
  • Sister-Of-Mammalian Grainyhead 3
  • Transcription Factor HSOM1 3
  • VWS2 3

External Ids for GRHL3 Gene

Previous HGNC Symbols for GRHL3 Gene

  • TFCP2L4

Previous GeneCards Identifiers for GRHL3 Gene

  • GC01P024392
  • GC01P024518
  • GC01P024645
  • GC01P022898

Summaries for GRHL3 Gene

Entrez Gene Summary for GRHL3 Gene

  • This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]

GeneCards Summary for GRHL3 Gene

GRHL3 (Grainyhead Like Transcription Factor 3) is a Protein Coding gene. Diseases associated with GRHL3 include Van Der Woude Syndrome 2 and Van Der Woude Syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is UBP1.

UniProtKB/Swiss-Prot for GRHL3 Gene

  • Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5-AACCGGTT-3 acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRHL3 Gene

Genomics for GRHL3 Gene

Regulatory Elements for GRHL3 Gene

Enhancers for GRHL3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GRHL3 on UCSC Golden Path with GeneCards custom track

Promoters for GRHL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GRHL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRHL3 Gene

Chromosome:
1
Start:
24,319,322 bp from pter
End:
24,364,482 bp from pter
Size:
45,161 bases
Orientation:
Plus strand

Genomic View for GRHL3 Gene

Genes around GRHL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRHL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRHL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRHL3 Gene

Proteins for GRHL3 Gene

  • Protein details for GRHL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE85-GRHL3_HUMAN
    Recommended name:
    Grainyhead-like protein 3 homolog
    Protein Accession:
    Q8TE85
    Secondary Accessions:
    • A2A297
    • B2RCL1
    • G3XAF0
    • Q5TH78
    • Q86Y06
    • Q8N407

    Protein attributes for GRHL3 Gene

    Size:
    626 amino acids
    Molecular mass:
    70345 Da
    Quaternary structure:
    • Homodimer, also forms heterodimers with GRHL1 and GRHL2 (PubMed:12549979). Interacts with LMO4 (By similarity).
    Miscellaneous:
    • GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxical lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related, but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development.
    SequenceCaution:
    • Sequence=AAH36890.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG37608.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GRHL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRHL3 Gene

Proteomics data for GRHL3 Gene at MOPED

Post-translational modifications for GRHL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GRHL3 Gene

Domains & Families for GRHL3 Gene

Protein Domains for GRHL3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRHL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TE85

UniProtKB/Swiss-Prot:

GRHL3_HUMAN :
  • Belongs to the grh/CP2 family. Grainyhead subfamily.
Family:
  • Belongs to the grh/CP2 family. Grainyhead subfamily.
genes like me logo Genes that share domains with GRHL3: view

No data available for Gene Families for GRHL3 Gene

Function for GRHL3 Gene

Molecular function for GRHL3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5-AACCGGTT-3 acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).

Gene Ontology (GO) - Molecular Function for GRHL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031490 chromatin DNA binding IDA 21081122
GO:0043565 sequence-specific DNA binding ISS --
genes like me logo Genes that share ontologies with GRHL3: view
genes like me logo Genes that share phenotypes with GRHL3: view

Human Phenotype Ontology for GRHL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRHL3 Gene

MGI Knock Outs for GRHL3:

Animal Model Products

miRNA for GRHL3 Gene

miRTarBase miRNAs that target GRHL3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRHL3 Gene

Localization for GRHL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRHL3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRHL3 Gene COMPARTMENTS Subcellular localization image for GRHL3 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 2
mitochondrion 2
cytosol 1

Gene Ontology (GO) - Cellular Components for GRHL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with GRHL3: view

Pathways & Interactions for GRHL3 Gene

SuperPathways for GRHL3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GRHL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity IEA --
GO:0001843 neural tube closure ISS --
GO:0007389 pattern specification process IEA --
GO:0007417 central nervous system development IEA --
GO:0010628 positive regulation of gene expression IEA --
genes like me logo Genes that share ontologies with GRHL3: view

No data available for Pathways by source and SIGNOR curated interactions for GRHL3 Gene

Drugs & Compounds for GRHL3 Gene

No Compound Related Data Available

Transcripts for GRHL3 Gene

Unigene Clusters for GRHL3 Gene

Grainyhead-like 3 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRHL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: -
SP3: - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - -

Relevant External Links for GRHL3 Gene

GeneLoc Exon Structure for
GRHL3
ECgene alternative splicing isoforms for
GRHL3

Expression for GRHL3 Gene

mRNA expression in normal human tissues for GRHL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRHL3 Gene

This gene is overexpressed in Esophagus - Mucosa (x18.9), Skin - Not Sun Exposed (Suprapubic) (x7.1), Vagina (x6.6), Skin - Sun Exposed (Lower leg) (x6.4), and Minor Salivary Gland (x5.5).

Protein differential expression in normal tissues from HIPED for GRHL3 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRHL3 Gene



SOURCE GeneReport for Unigene cluster for GRHL3 Gene Hs.657920

mRNA Expression by UniProt/SwissProt for GRHL3 Gene

Q8TE85-GRHL3_HUMAN
Tissue specificity: Expressed in brain, colon, pancreas, placenta and kidney. Isoform 1 is expressed in lung and tonsil. Isoform 2 is prostate-specific.
genes like me logo Genes that share expression patterns with GRHL3: view

Protein tissue co-expression partners for GRHL3 Gene

- Elite partner

Primer Products

Orthologs for GRHL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRHL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRHL3 35
  • 90.09 (n)
  • 93.52 (a)
GRHL3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRHL3 35
  • 90.68 (n)
  • 94.78 (a)
GRHL3 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grhl3 35
  • 86.93 (n)
  • 91.36 (a)
Grhl3 16
Grhl3 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRHL3 35
  • 99.39 (n)
  • 99.5 (a)
GRHL3 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grhl3 35
  • 87.13 (n)
  • 91.44 (a)
oppossum
(Monodelphis domestica)
Mammalia GRHL3 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRHL3 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRHL3 35
  • 75.18 (n)
  • 78.63 (a)
GRHL3 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRHL3 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grhl3 35
  • 66.95 (n)
  • 68.58 (a)
Str.3072 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5446 35
zebrafish
(Danio rerio)
Actinopterygii grhl3 35
  • 58.9 (n)
  • 54.18 (a)
grhl3 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta grh 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grh-1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for GRHL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRHL3 Gene

ENSEMBL:
Gene Tree for GRHL3 (if available)
TreeFam:
Gene Tree for GRHL3 (if available)

Paralogs for GRHL3 Gene

Paralogs for GRHL3 Gene

(2) SIMAP similar genes for GRHL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GRHL3: view

Variants for GRHL3 Gene

Sequence variations from dbSNP and Humsavar for GRHL3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2486668 - 24,331,573(-) ACACT(C/G)TCATC intron-variant, reference, missense
rs34637004 - 24,336,694(+) CTCTG(C/T)GGACA reference, missense
VAR_072616 Van der Woude syndrome 2 (VWS2)
VAR_072617 Van der Woude syndrome 2 (VWS2)
VAR_072618 Van der Woude syndrome 2 (VWS2)

Structural Variations from Database of Genomic Variants (DGV) for GRHL3 Gene

Variant ID Type Subtype PubMed ID
dgv196n71 CNV Gain 21882294
nsv469575 CNV Complex 16826518
nsv834447 CNV Loss 17160897
esv2745486 CNV Deletion 23290073
esv2745497 CNV Deletion 23290073
esv1739869 CNV Insertion 17803354
esv1745617 CNV Insertion 17803354

Variation tolerance for GRHL3 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.14; 92.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRHL3 Gene

Human Gene Mutation Database (HGMD)
GRHL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRHL3 Gene

Disorders for GRHL3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRHL3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
van der woude syndrome 2
  • vws2
van der woude syndrome
  • myopathy, actin, congenital, with excess of thin myofilaments
popliteal pterygium syndrome 1
  • popliteal pterygium syndrome
branchiooculofacial syndrome
  • bof syndrome
koolen-de vries syndrome
  • koolen de vries syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GRHL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRHL3_HUMAN
  • Van der Woude syndrome 2 (VWS2) [MIM:606713]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. {ECO:0000269 PubMed:24360809}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRHL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRHL3
genes like me logo Genes that share disorders with GRHL3: view

No data available for Genatlas for GRHL3 Gene

Publications for GRHL3 Gene

  1. The identification and characterization of human sister-of-mammalian grainyhead (SOM) expands the grainyhead-like family of developmental transcription factors. (PMID: 12549979) Ting S.B. … Jane S.M. (Biochem. J. 2003) 2 3 4 67
  2. Two isoforms of Sister-Of-Mammalian Grainyhead have opposing functions in endothelial cells and in vivo. (PMID: 23685552) Haendeler J. … Altschmied J. (Arterioscler. Thromb. Vasc. Biol. 2013) 2 3
  3. Gene trapping identifies a putative tumor suppressor and a new inducer of cell migration. (PMID: 18814840) Guardiola-Serrano F. … Altschmied J. (Biochem. Biophys. Res. Commun. 2008) 3 23
  4. Identification of a Novel Proto-oncogenic Network in Head and Neck Squamous Cell Carcinoma. (PMID: 26063791) Georgy S.R. … Darido C. (J. Natl. Cancer Inst. 2015) 3
  5. Recent discoveries concerning the involvement of transcription factors from the Grainyhead-like family in cancer. (PMID: 26069269) Mlacki M. … Wilanowski T. (Exp. Biol. Med. (Maywood) 2015) 3

Products for GRHL3 Gene

Sources for GRHL3 Gene

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