Gene: GRHL2

Alternate names for this Gene: BOM|DFNA28|ECTDS|PPCD4|TFCP2L3

Gene 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).

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.3

Description of this Gene: grainyhead like transcription factor 2

Type of Gene: protein-coding

rs587777737 in GRHL2 gene and Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome PMID 25152456 2014 Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

rs10955269 in GRHL2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.