Gene: GRHL3

Alternate names for this Gene: SOM|TFCP2L4|VWS2

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: grainyhead like transcription factor 3

Type of Gene: protein-coding

rs41268753 in GRHL3 gene and Cleft Palate PMID 27018472 2016 In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively).

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs797044857 in GRHL3 gene and Multiple congenital anomalies PMID 28886269 2018 Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

PMID 28276201 2017 Rare deleterious variants in GRHL3 are associated with human spina bifida.

PMID 24360809 2014 Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

rs879255245 in GRHL3 gene and Van der Woude syndrome 2 PMID 24360809 2014 Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.