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GRHL2 |
Gene Facts External Data Attribution
- HGNC Symbol
- GRHL2 (HGNC:2799) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- grainyhead like transcription factor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA28, TFCP2L3
- Alias symbols
- FLJ13782, BOM
- %HI
- 23.98(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.37(Read more about gnomAD LOEUF score)
- Cytoband
- 8q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr8:102504667-102681954 NCBI Ensembl UCSC GRCh38/hg38: chr8:101492439-101681200 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024915.4 ENST00000646743.1 (Read more about MANE Select)
- 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... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16182
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)
