The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009] See more...

Aliases for GRHL2 Gene

Aliases for GRHL2 Gene

  • Grainyhead Like Transcription Factor 2 2 3 5
  • Transcription Factor CP2-Like 3 2 3 4
  • Grainyhead-Like Protein 2 Homolog 3 4
  • Brother Of Mammalian Grainyhead 3 4
  • TFCP2L3 3 4
  • BOM 3 4
  • Deafness, Autosomal Dominant 28 2
  • Grainyhead-Like 2 (Drosophila) 2
  • Grainyhead-Like 2 3
  • DFNA28 3
  • ECTDS 3
  • PPCD4 3

External Ids for GRHL2 Gene

Previous HGNC Symbols for GRHL2 Gene

  • DFNA28
  • TFCP2L3

Previous GeneCards Identifiers for GRHL2 Gene

  • GC08P102575
  • GC08P097702

Summaries for GRHL2 Gene

Entrez Gene Summary for GRHL2 Gene

  • The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]

GeneCards Summary for GRHL2 Gene

GRHL2 (Grainyhead Like Transcription Factor 2) is a Protein Coding gene. Diseases associated with GRHL2 include Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin DNA binding. An important paralog of this gene is GRHL1.

UniProtKB/Swiss-Prot Summary for GRHL2 Gene

  • Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:29309642, PubMed:25152456). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (PubMed:23254293).

Additional gene information for GRHL2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRHL2 Gene

Genomics for GRHL2 Gene

GeneHancer (GH) Regulatory Elements for GRHL2 Gene

Promoters and enhancers for GRHL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J101489 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 519.9 +0.5 458 6.1 ZNF217 ZFX CLOCK SAP30 KLF4 RFX1 CUX1 CHD1 GATAD2B EZH2 GRHL2 ENSG00000254024 HSALNG0067386
GH08J101444 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -41.6 -41598 13.3 ZNF217 CTCF TCF12 GTF2E2 JUND FOS REST RFX1 CUX1 EP300 ENSG00000254084 GRHL2 ENSG00000254024 UBR5 piR-45358-017
GH08J101465 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 -25.4 -25422 3.4 ZNF217 TCF12 RFX1 CUX1 CHD1 FOXA2 HCFC1 SIN3A MYC ELK1 lnc-GRHL2-18 GRHL2 ENSG00000254024 lnc-NCALD-4
GH08J101514 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.4 +23.0 22995 3.2 ZNF217 GATAD2B CTBP1 RELA HES1 ESRRA MYC ZNF592 CBFB CTCF ENSG00000254024 GRHL2 HSALNG0067386
GH08J101458 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 -31.3 -31270 4.9 ZSCAN5C TCF12 ZFX RFX1 CTBP1 HES1 SIN3A ELK1 WT1 ZNF592 piR-42491-221 ENSG00000254024 GRHL2 ENSG00000254084
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRHL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRHL2

Top Transcription factor binding sites by QIAGEN in the GRHL2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E4BP4
  • FOXD1
  • NF-AT
  • Sox5

Genomic Locations for GRHL2 Gene

Genomic Locations for GRHL2 Gene
chr8:101,492,406-101,678,098
(GRCh38/hg38)
Size:
185,693 bases
Orientation:
Plus strand
chr8:102,504,660-102,681,954
(GRCh37/hg19)
Size:
177,295 bases
Orientation:
Plus strand

Genomic View for GRHL2 Gene

Genes around GRHL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRHL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRHL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRHL2 Gene

Proteins for GRHL2 Gene

  • Protein details for GRHL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ISB3-GRHL2_HUMAN
    Recommended name:
    Grainyhead-like protein 2 homolog
    Protein Accession:
    Q6ISB3
    Secondary Accessions:
    • A1L303
    • Q6NT03
    • Q9H8B8

    Protein attributes for GRHL2 Gene

    Size:
    625 amino acids
    Molecular mass:
    71105 Da
    Quaternary structure:
    • Homodimer, also forms heterodimers with GRHL1 or GRHL3.
    Miscellaneous:
    • GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxal 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.

    Three dimensional structures from OCA and Proteopedia for GRHL2 Gene

    Alternative splice isoforms for GRHL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRHL2 Gene

Post-translational modifications for GRHL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRHL2 Gene

No data available for DME Specific Peptides for GRHL2 Gene

Domains & Families for GRHL2 Gene

Gene Families for GRHL2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GRHL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRHL2 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor CP2-like 3 (GRHL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ISB3

UniProtKB/Swiss-Prot:

GRHL2_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 GRHL2: view

Function for GRHL2 Gene

Molecular function for GRHL2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:29309642, PubMed:25152456). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (PubMed:23254293).
UniProtKB/Swiss-Prot Induction:
Expressed in proliferating cells, the expression decreases during senescence. In keratinocytes, expression levels decrease upon calcium exposure.

Phenotypes From GWAS Catalog for GRHL2 Gene

Gene Ontology (GO) - Molecular Function for GRHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001161 intronic transcription regulatory region sequence-specific DNA binding ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA,IMP 29309642
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with GRHL2: view
genes like me logo Genes that share phenotypes with GRHL2: view

Human Phenotype Ontology for GRHL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRHL2 Gene

MGI Knock Outs for GRHL2:

Animal Model Products

CRISPR Products

Targeted motifs for GRHL2 Gene
HOMER Transcription Factor Regulatory Elements motif GRHL2
  • Consensus sequence: AAACYKGTTWDACMRGTTTB Submotif: canonical Cell Type: HBE GEO ID: GSE46194

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GRHL2 Gene

Localization for GRHL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRHL2 Gene

Nucleus. Membrane. Note=detected at cell-cell contact areas. {ECO:0000269 PubMed:25152456}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRHL2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GRHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IBA 20938050
GO:0005654 nucleoplasm IDA --
GO:0005911 cell-cell junction IDA 25152456
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GRHL2: view

Pathways & Interactions for GRHL2 Gene

PathCards logo

SuperPathways for GRHL2 Gene

genes like me logo Genes that share pathways with GRHL2: view

Pathways by source for GRHL2 Gene

2 BioSystems pathways for GRHL2 Gene

Interacting Proteins for GRHL2 Gene

;

SIGNOR curated interactions for GRHL2 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GRHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001843 neural tube closure ISS --
GO:0003208 cardiac ventricle morphogenesis IEA --
GO:0003382 epithelial cell morphogenesis ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with GRHL2: view

Drugs & Compounds for GRHL2 Gene

No Compound Related Data Available

Transcripts for GRHL2 Gene

mRNA/cDNA for GRHL2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRHL2 Gene

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

Relevant External Links for GRHL2 Gene

GeneLoc Exon Structure for
GRHL2

Expression for GRHL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRHL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRHL2 Gene

This gene is overexpressed in Esophagus - Mucosa (x7.0), Skin - Sun Exposed (Lower leg) (x6.9), Skin - Not Sun Exposed (Suprapubic) (x6.7), Prostate (x5.0), and Minor Salivary Gland (x4.1).

Protein differential expression in normal tissues from HIPED for GRHL2 Gene

This gene is overexpressed in Placenta (56.6) and Heart (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRHL2 Gene



Protein tissue co-expression partners for GRHL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRHL2

SOURCE GeneReport for Unigene cluster for GRHL2 Gene:

Hs.661088

mRNA Expression by UniProt/SwissProt for GRHL2 Gene:

Q6ISB3-GRHL2_HUMAN
Tissue specificity: Expressed in keratinocytes (at protein level). Highly expressed in placenta, prostate, brain and kidney. Lower-level expression in a variety of epithelial tissues such as thymus, lung, salivary gland, mammary gland and digestive tract. Expressed in the cochlear. Expressed in corneal epithelial cells, but not in the endothelium or stroma (PubMed:29499165).

Evidence on tissue expression from TISSUES for GRHL2 Gene

  • Skin(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRHL2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
  • tooth
Thorax:
  • heart
  • heart valve
Limb:
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with GRHL2: view

Orthologs for GRHL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRHL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRHL2 31 30
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GRHL2 31 30
  • 92.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRHL2 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRHL2 31 30
  • 91.68 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRHL2 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grhl2 17 31 30
  • 88.53 (n)
rat
(Rattus norvegicus)
Mammalia Grhl2 30
  • 88.27 (n)
chicken
(Gallus gallus)
Aves GRHL2 31 30
  • 80.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRHL2 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grhl2 30
  • 76 (n)
zebrafish
(Danio rerio)
Actinopterygii grhl2b 31 30
  • 71.56 (n)
OneToMany
grhl2a 31
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta grh 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grh-1 31
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Species where no ortholog for GRHL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 GRHL2 Gene

ENSEMBL:
Gene Tree for GRHL2 (if available)
TreeFam:
Gene Tree for GRHL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRHL2: view image

Paralogs for GRHL2 Gene

Paralogs for GRHL2 Gene

(2) SIMAP similar genes for GRHL2 Gene using alignment to 1 proteins:

  • GRHL2_HUMAN
genes like me logo Genes that share paralogs with GRHL2: view

Variants for GRHL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRHL2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
666698 Likely Benign: not specified 101,558,566(+) C/T SYNONYMOUS_VARIANT
666837 Uncertain Significance: not specified 101,644,159(+) C/T MISSENSE_VARIANT
667118 Likely Benign: not specified 101,558,588(+) G/A MISSENSE_VARIANT
667242 Uncertain Significance: not specified 101,577,490(+) A/C MISSENSE_VARIANT
675043 Benign: not provided 101,631,750(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GRHL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRHL2 Gene

Variant ID Type Subtype PubMed ID
dgv12248n54 CNV loss 21841781
dgv2106e212 CNV loss 25503493
dgv2107e212 CNV loss 25503493
dgv3869n106 CNV duplication 24896259
esv1282337 CNV insertion 17803354
esv2252185 CNV deletion 18987734
esv2421697 CNV deletion 20811451
esv2657338 CNV deletion 23128226
esv2677466 CNV deletion 23128226
esv2759635 CNV loss 17122850
esv2761235 CNV loss 21179565
esv2764126 CNV loss 21179565
esv28138 CNV loss 19812545
esv3543930 CNV deletion 23714750
esv3572924 CNV loss 25503493
esv3576597 CNV gain 25503493
esv3618206 CNV loss 21293372
esv3618207 CNV loss 21293372
esv991268 CNV insertion 20482838
nsv1137390 CNV deletion 24896259
nsv1153665 CNV duplication 26484159
nsv1161785 CNV deletion 26073780
nsv396225 CNV insertion 16902084
nsv396957 CNV deletion 16902084
nsv442525 CNV loss 18776908
nsv515051 CNV loss 21397061
nsv611816 CNV loss 21841781
nsv8370 CNV loss 18304495
nsv971343 CNV duplication 23825009

Variation tolerance for GRHL2 Gene

Residual Variation Intolerance Score: 5.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRHL2 Gene

Human Gene Mutation Database (HGMD)
GRHL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRHL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRHL2 Gene

Disorders for GRHL2 Gene

MalaCards: The human disease database

(23) MalaCards diseases for GRHL2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

GRHL2_HUMAN
  • Deafness, autosomal dominant, 28 (DFNA28) [MIM:608641]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade. {ECO:0000269 PubMed:12393799}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectodermal dysplasia/short stature syndrome (ECTDS) [MIM:616029]: An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature. {ECO:0000269 PubMed:25152456}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal dystrophy, posterior polymorphous, 4 (PPCD4) [MIM:618031]: A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269 PubMed:29499165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GRHL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GRHL2: view

No data available for Genatlas for GRHL2 Gene

Publications for GRHL2 Gene

  1. Regulation of the hTERT promoter activity by MSH2, the hnRNPs K and D, and GRHL2 in human oral squamous cell carcinoma cells. (PMID: 19015635) Kang X … Park NH (Oncogene 2009) 3 4 23 54
  2. The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. (PMID: 17921507) Van Laer L … Van Camp G (Human molecular genetics 2008) 3 23 41 54
  3. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. (PMID: 12393799) Peters LM … Morell RJ (Human molecular genetics 2002) 2 3 4 54
  4. Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family. (PMID: 29309642) Ming Q … Heinemann U (Nucleic acids research 2018) 3 4 54
  5. Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. (PMID: 29499165) Liskova P … Hardcastle AJ (American journal of human genetics 2018) 3 4 54

Products for GRHL2 Gene

Sources for GRHL2 Gene