GRHL2 grainyhead like transcription factor 2
Gene ID: 79977, updated on 6-Jun-2024Gene type: protein coding
Also known as: BOM; ECTDS; PPCD4; DFNA28; TFCP2L3
- See all available tests in GTR for this gene
- Go to complete Gene record for GRHL2
- Go to Variation Viewer for GRHL2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study (GWAS) for bronchopulmonary dysplasia. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 28 | See labs |
| Corneal dystrophy, posterior polymorphous, 4 | See labs |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | See labs |
Genomic context
- Location:
- 8q22.3
- Sequence:
- Chromosome: 8; NC_000008.11 (101492439..101681200)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GRHL2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GRHL2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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